The Voices of SMA: Appendix All Responses Voices of SMA: Appendix All Responses My husband and I were both active duty military when our youngest son was diagnosed with spinal muscular

The Voices of SMA: Appendix All Responses


My husband and I were both active duty military when our youngest son was diagnosed with spinal muscular atrophy. Bama was only 11 months old. When he was diagnosed we were told to take him home and love him and there was nothing else we could do. We were also told that he would not see his second birthday. The first year of his diagnosis was difficult, we had 12 hospitalizations for pneumonia, but we managed to fight and overcome each and every stay. My husband and I try to stay very proactive in our son's care and we are always looking for better ways to make his life easier. SMA has taken a toll on my husband and me. The amount of fighting we do for our son on a daily basis is beyond exhausting but we continue to do it because Bama deserves it. Life with SMA is difficult, life in the military with a child with SMA is impossible. Most leadership understand but then you have some that just don't care. We had fought for home nursing so while my husband and I were at work we could have someone at the house that knew how to medically take care of our son. It took five years to get home nursing. We only received home nursing because Bama got so ill that even the doctors gave up hope and were trying to prepare us for the inevitable. We constantly would get "scolded" by Tricare because we would leave the nurse home with Bama, so that my husband and I could continue to fulfill our obligation to the military. We were told that the nurses could not be home with our son without an adult in the home. We fixed that by hiring a sitter to sit at the house to watch the nurses provide the care for my son that he deserved. Finding good nursing care provide to be a very difficult task. In less than a year we went through three nursing agencies. The first nursing agency would staff us with great nurses but then they would pull them off after a couple of shifts and replace them with nurses that really sucked. The second nursing agency we went with started off great but then our sitter we had hired to sit with our son and the nurse told us that one of the nurses was neglecting Bama during the day and was very verbally abusive and even during one shift fell asleep at our kitchen table while he laid in bed screaming for help. That agency stood by the nurse and said that it was our six year old son's fault and that the nurse had a traumatic event in her life. At this point it became clear to my husband and I that we could not provide the care that our son deserved as well as fulfill our obligation to the military. After 17years in the military my husband had to get out of the military with no retirement or anything for his service. 17 years of his life right down the drain. I have lost sight of how many hospital stays that Bama has had due to illness, surgeries, or sleep studies. We have become pro's and the hospital is like our second home. It's hard on our family because our other children have to miss out on mom and dad time and they worry about their brother. Bama has a lot of anxiety because of the countless things that has happened to him in his life. He doesn't trust people because of the bad experiences that he has had. A normal outing for a normal family simply cannot happen for ours. In order for us to leave the house we first have to pack a bag that contains diapers, wipes, extra suction catheters, a replacement g-tube, water for his bolus, his formula for his bolus, a clean change of clothes, then we have to pack his machines which we don't leave the house without his cough assist or suction because we never know what is going to happen. Then we have to get him ready which he requires a back brace and feet braces. Heaven forbid if we lose track of time and we are late blousing him then he starts to vomit which could cause an aspiration which will lead to pneumonia. Bama has an electric wheelchair but we


can't travel with that because we have no way to transport it. So when we are out he has to depend on us. For the last year our son has become too weak to drive his electric wheelchair and has become more dependent on others to help him with tasks throughout the day. Bama was also kicked out of school last year because he missed too many days (which was due to being hospitalized). I had to fight with the school for him to be placed in a program that would allow a teacher to come to the house and teach him. That program was only good for a short period of time and they only authorized him 30 minutes a week for reading and math, 30 minutes of OT and 30 minutes of PT a week. I argued with the school board about that too. How it is his fault that his diagnosis has him sick and out of school? How is he supposed to stay up with his peers with only 30 minutes of reading a math a week? We also struggle with brittle bones. Bama has had both femurs broke, and his feet have been broken countless times as well. All accidents. The femurs were broken when he was being carried and the individual slipped and fell backwards. Bama did not touch the ground nor did his legs get twisted or trapped in anyway. The mere squeeze on him to keep from dropping him broke his femurs. His feet have been broken a numerous amount of times by simply having his AFO's put on. I think one of hardest things about SMA is listening to you child talk. Bama is smart. He is smarter than his peers and understands more than a normal 7 year old should understand. The hardest thing to listen to is when I hear Bama ask about why his legs don't work and he wishes he could walk or to watch him struggle to play with the simplest toy because he doesn't have enough strength to lift it up or push a button. I hear my son talk about wanting to be an Alabama Football player or be a police officer just like me. It breaks my heart to hear these things because I can't fix him and make his wishes come true. I will go to hell and back for him and my husband and I will do whatever it takes. We are so close to a treatment/cure yet sometimes it feels like we are so far away. Time is precious and you never know what they day is going to bring. We have known and see families that have lost their child to SMA so very quickly and is frightens us like no tomorrow. My husband gave up his military career for Bama and together we have lost time sleeping, eating and with family because of SMA and we will not stop until we can get a cure. Life with SMA is a daily struggle and some days are more difficult than others. There are day that feel like the whole world is crashing down around us but we have to pick ourselves up and dust ourselves off to keep fighting for Bama. No one will fight for him the way we fight for him and all the other families with children with SMA are the same way.

Submitted by: Blanca Shore


Hi. I'm Chrystal Bates. I was born with SMA3 in 1940 which makes me I guess one of the oldest with this disease and will be 75 this November 2015. My mother had to fight for her children to get an education. She knew we were smart enough. They didn't want us then in school, not like the advantages disabled children have today. She won. I remember at a young age during fire drills in school a janitor would find me and carry me down and then back up a flight of stairs gently, like I was a broken kitten. The hardships on a family, plus the heartaches and worry of parents who have neuromuscular diseased children is totally enormous. And to lose that gift, that child, is beyond words. I was a medical secretary for 20 years. Fifteen of those years from a wheelchair. One day I found it more difficult to get out of my '67 Mustang. I was having trouble getting out and up of most everything at that time. The wind could blow me over and I couldn't get up again. Well you can't work if the wind blows you over. Time for a wheelchair. I was able for a while to walk with a walker at home eleven steps at a time, lock my knees together, rest and like a wind up toy do another eleven and repeat. I was lucky to be able to transfer myself until 2007 onto toilets and my wheelchair. Boy did I invent ways that aren't written in the books to do. I cared for myself then as I do now, but now with one hour a.m. and p.m. caregivers, living alone. I also swam a lot which I believe helped keep me toned to the best I could be. Married then I needed to keep working. Then saw a van with a lift with someone in a wheelchair come out of it. Amazing. I'd never seen this. I got one. Now I'm unable to drive, but was blessed to be able to for 31 years and to think now cars can drive for us. I'm also very limited. I'm an accomplished artist and had a studio and used to teach art, painting up side down sometimes to reach the top now as I no longer can. At 75, I would love to be in a clinical trial before I die to see if it would help even a little and to help other older SMA's get the same. Need I say time is of the essence for all with SMA. My only sibling, my brother, died in 1996 probably a SMA2, his being in a wheelchair when he was16. I'm sure I had much more of the SMN 2 backup than he did because I was 45 when I had to start using a wheelchair. He died at 58 years living that long mostly because of the wonderful care by our mother. My brother told me to never give up, that he wouldn't make it, but thought for sure I would. His loss was immense to me. I wrote a song ''I can't call you way up there in Heaven''. We talked everyday on the phone. It helped. Also wrote a book, ''Alan's Notes on Love''. So here I am perhaps in gross denial, still fighting, still stubborn, still hoping and believing that through CureSMA instigating research/clinical trials and the generosity of the FDA, NIH and the great researchers/doctors like Dr. Jerry Mendell at National Childrens Hospital who diagnosed me in 1999, Dr. John Kissel at OSU Medical Center and Dr. Alan Pestronk in St. Louis I hope there will be fast, appropriate and the extremely urgent necessary changes made by you there at FDA to help the CureSMA organization along with supportive families who are doing so much to help and the dedicated researcher's endeavors to rid this horrendous devastating disease A.S.A.P. for all SMA patients and their families. It can't be done without you. Thank you, Chrystal Bates

Submitted by: Chrystal Bates


Madison Smith, 8 years old affected by Spinal Muscular Atrophy type 2. Madison was diagnosed with SMA 2 days before her birthday. Doctors told us Madison would not make it to her 2nd birthday but Madison's parents sought out resources and found Cure SMA then learned the proper care and protocols to help Madison live longer. Madison has never crawled or walked. She started using a power wheelchair at age 2. As Madison gets older her muscles don't grow, making her body weaker as it tries to support a bigger body. Madison uses 5 pieces of respiratory equipment to help her stay healthy and alive when sick. She is in the hospital several times a year and has had 8 fractures resulting in needing to attend school on Hospital Homebound last year for 2nd grade. Through it all, Madison has a positive attitude and outlook on life. She lives life to the fullest by swimming daily, playing her ukulele and dancing.

Submitted by: Jennifer Smith


Back in 2006, I lost my grandson Gavin to SMA Type 1 at 5 months. At the time we had no idea it existed let alone that we were carriers to the gene. To say the least, we were devastated. He was our first grandchild. We were robbed of so many firsts. No first birthdays, first Christmas, no first days of school. Even after 9 long years, I wonder what those would have been like to enjoy those or what he would look like today. To be robbed of a child is the most horrible thing that no one should have to face ever.

Submitted by: Janice Kress


Dear FDA, I am sure that you are being flooded with the stories from parents and grandparents of children who are living with Spinal Muscular Atrophy, and I know that those parents and grandparents are the most equipped persons to tell you about the struggle of living with SMA. I want to tell you a different story. I want to tell you about living without a child because of Spinal Muscular Atrophy. My son Gavin Walker Kress was worn on May 1st, 2006 and died on October 3rd, 2006. When he was diagnosed with SMA Type I, I had no idea what the disease was, but I learned. I learned, and I reached out and I found an amazing network of families who were all fighting a similar battle. To this day, I am thankful for those that were there for me during the few short weeks that we had both Gavin and a diagnosis. I learned - just like everyone caring for an SMA patient knows - that conditions can change in the blink of an eye. One day, Gavin and I met friends to shop for an upcoming Halloween party, and the next he had stopped breathing and was rushed to the ER. He was in the PICU for 10 days before we lost the fight. Gavin's fight was short, but I swore to him that I would keep fighting back against Spinal Muscular Atrophy, and nine years later, I am still wielding every weapon I have against SMA. Nine years later, and I have celebrated major milestones in the war, and mourned the loss of young fighters. Nine years later, and SMA has affected my life threefold. In 2013, my cousin and his wife lost their second son - Ryker Don Conrad - to SMA Type I. In 2014, a friend's son was diagnosed with SMA Type I and continues to fight. Nine years later, and I have had to hold my daughter as she struggled to absorb that she has a brother that she can never meet. Nine years later, and I'm not ready to give up. And so, FDA, I ask you to look at all of the progress that has been made in nine years, and I ask you to remember that every second that a family goes without treatment for their child might be the last second that they see that child healthy. Thank you for your time, Renee Hunter

Submitted by: Renee Hunter


Time is ticking and children are suffering. We need to find a cure for our children. They are the future of our country and deserve to be our top priority.

Submitted by: Anonymous


My name is Lisa, I'm 52years old and I have SMA type 3. I have struggled my entire life just to do normal things. I didn't want SMA to stop me from forfilling my goals and dreams. Although I had symptoms since about 18 months of age, I was diagnosed at age 20 when I was in college. I decided to put my education on hold and became a mother at age 22 because I was afraid that I would be too weak later on in life. After a divorce, I went back to school to realize my dream of becoming a teacher. Raising two small boys ages 4 and 5 as a single mother with SMA while earning my BA was one of the most challenging things I've ever done. The desire to be a good role model and the necessity to provide for my children drove me through the toughest times. I wanted my children to see strength and determination in me despite watching me fall and struggle to walk. My son learned how to pick me up off the floor when he was 9 years old. My children watched me receive my BA in speech pathology and later on my Master's degree. I worked for 14 years as a school based speech therapist. After many falls, I was forced to retire due to a severe knee injury that ecellerated my progression. Walking is becoming increasingly difficult for me. I am unable to walk outside of my home independently. I like so many others with SMA are waiting for a treatment so that we can live without losing muscle function. I will be a grandmother soon and hope I have the strength to help care for my grandchild.

Submitted by: Lisa Batista


Rhys Santiago was our first son. He had SMA. We believe Type 1. He passed at 55 days old. Since birth he displayed floppiness and trouble feeding. He had tongue tremors, poor reflexes and general fussiness. It was a sign that he was losing or already lost his swallow. We could also hear congestion in his chest. We learned it was a sign that his lung had partially collapsed. Twice he choked and turned blue during feedings. I believe that if he was screened prenatally and during newborn screening, we could have intervened sooner and had a better chance at preserving his muscle function. Sadly time was not on our side and we lost him 2 days shy of his 8 week birthday. Not only does this disease affect every day life, it also greatly affects how we choose to grow our family. We fear getting pregnant the naturally. A cure or treatment cannot come soon enough. Precious infant lives depend on it. And those children that have unfortunately been excluded from trials patiently wait for an approved treatment. They see improvement from those participating in drug trials and their frustration for lack of access grows every day. We keep hope alive that the young lives that have been lost to this disease were not lost in vain. Hope for a cure soon and a treatment sooner is what keeps us going.

Submitted by: Monessa Santiago


Hello My name is Mustafa from Iraq my age is current 25 has been the discovery of the disease by accident at the age of 16, a Sam type 3 ... Live in Iraq, particularly in Baghdad, as you know, a bad situation for natural persons. What if people infected with the disease is incurable and chronic disease only only my request to speed up of the drug approval process, especially isis_smnrx because of its great hope for patients around the world, as well as other discovered drugs that possible to make our lives better 'I am I am suffering from psychological condition is very bad and took medicine mental cases as well as thoughts of suicide that haunt me once in a while my hope in you As is the hope of all the families that have people living with the disease just want an opportunity to improve and we have nothing to lose ..i wish they speed up the approval of the medication of this disease ..thanx

Submitted by: mustafa adnan


I am a grandmother of a 7 year girl named Charli. She was diagnosed with SMA type 2 at 14 months of age. The effects of SMA has changed my entire life.Also that of my daughter Liz, mother of Charli and Brian her dad. The tragic thing is that every family member , friend, co - worker, teachers and health providers feel the devastation of SMA. Everyone sees what a strong Spirit these innocent children have. And believe me there has not been one that doesn't have it flowing from them. The thing with SMA, is that these children have wonderful minds and spirit! Our Charli has touched every single person that she comes in contact with, she and the others deserve a chance to live better lives just like other children. Because Charli is very intelligent and compassionate, this disease makes it even harder to live a full life. Yes she can use a tablet for learning, yes she can go to school, yes she can ride in a motorized wheelchair. However..... No she cannot use a pencil or pen or even crayons very well, No, going to school,makes her get sick and becomes hospitalized, and No, riding in the powerchair... is painful, her knees ache,her hand gets so tired she crys. A child should not have to bear these burdens of pain. Now, my daughter is a single mom, and although dad helps alot, he is not there 24/7. My daughter cannot work, Charli is totally dependent on her. I do not work, because I need to be there for my daughter. The amount of medical equipment necessary to maintain her life is huge. Just going out of your house with a child with SMA is a very large undertaking. And of course these children deserve to see the world, to experience life..my daughter fears that soon she will not even be able to lift Charli as she grows,and even those few outings will be gone. The advancement of SMA research is so very important for these children. All I ask is for a chance at an easier less painful life.

Submitted by: Cindy Miranda


Our daughter was diagnosed with SMA almost 13 1/2 years ago. The process we underwent to find out what was affecting our daughter Jadelyn was painful & stressful not only for us, but for her. When she was diagnosed at 18 months old we did not know or understood what SMA was...at the time there was minimum information out there, today it is the # genetic killer among infants to the age of 1. There are several types & Jadelyn was diagnosed with type II, robbing her the ability to sit on her own, crawl, stand & walk. She has been confined to a wheelchair since she was 2 1/2 years old. She has a bipap machine, cough assist machine, nebulizer all to help her breathe. Jadelyn also has severe scoliosis in which she had to undergo a spinal fusion over 8 years ago, this did not correct the scoliosis 100%, but a temporary fix to help illimate some curviture and help her breathe. She also has a collapse left lung due to the collasped lung, which increases her right lung function ( works double time), not good. At times she may use an inhaler to help her breathe. Heat/hot weather doesn't do her justice & the cold weather doesn't help her either.. we have to make sure she does not get sick, because it can be detrimental for her well being. Jadelyn has been hospitalized three times do to a mucus plug, each time we would be in the pediatrics unit for weeks till she gets better. She cannot do what her friends do, she does NOT have the freedom. Lately she has been complaining of hip pain due to a dislocated hip she has, as she is fragile...pain management is our option but not sure that's the route we want to pursue being she is so tiny (petite) & how it would actually affect her. SMA has robbed my daughters ability to be mobile & it's affecting her lifestyle in many ways. She continues to strive, is resilient & determine to live life to the fullest. If there is a cure or anything that my daughter or other children who are struggling & living with this disease can benefit from it is crucial for them to receive it. The FDA has a responsibilty & power to push forth the effort by legalizing it and providing our children and family a chance of life. Too many children have died from this horrific disease, how many more???

Submitted by: Ruthie Panko


Dear FDA My son Cruz Leite is soon turning 3, he suffers from type2 SMA, our love for him hasn't been affected in anyway but his life has and slowly my wife and I notice the weakness in his body getting more and more debilitating causing Cruz to feel frustrated at such young and tender age. We are aware of the amazing work being done in SMA cure trials but every day becomes a battle. Now is the time, now is the right to cure and help my little boy having faith that one day he will be walking and playing with kids. We live in Sydney, Australia. . . Thank you for your time

Submitted by: Adriano Leite


I had the privilege to meet Hilda Pedraza on July of 2014 who's daughter Baby Ella had been diagnosed with SMA type 1 Hilda had many challenges during baby Ella's short life, however she kept fighting for her Angel Baby Ella she was tormented on what she should do for she loved her daughter so much she didn't want her to suffer, she didn't want to be selfish so with all the pain in her heart on October 7 2014 Hilda made the hardest decision of her life not to put Baby Ella through more pain of being trached or intubated, she let her BABY her smallest youngest BABY fly to heaven where Ella would have no more pain Ella was the youngest of Hilda's 5 children they were all devastated for the all love their Baby Ella so much, Hilda held Baby Ella for hours many hours, my heart broke when she had to let Ella in the morgue he precious, precious baby Ella. Baby Ella captured many hearts with her gorgeous eyes and her contagious smile, no parent should have to go through all this heart ache in the wait of approval from a few individual do I implore in Baby Ella's name do not delay approval for a Cure to SMA if it were your child would you want a Cure in Gods speed? If Tobacco is approved and these new vapor cigars that is well known to cause many lung disease WHY NOT APPROVE A CURE to SMA?

Submitted by: Mayde Sosa


Dear Sir, Madam, My now 2 year old daughter Neomi Ronen was an half year ago diagnosed with SMA type II. We live in the Netherlands and are a member of CureSMA. Not a second goes by that we wish there would be a treatment for this terrible disease. I think about it all the time and I follow all the news. It's so devastating to hear that your child is diagnosed with a terrible disease, which she got from her parents, which is progressive and which there is no cure for yet. My daughter cannot stand or walk, I see in her eyes that she wants to play with all the other children of her age, but she cannot. She's very smart and I know we would survive this terrible disease when there would be a medicine that would stop the progression. You can live a happy life without the functions of your legs, it's not ideal and I really wish there would be a cure, but for now I just pray and hope that the medicines that stop this progression will come threw soon . We need your help for this FDA. Please please, I beg you, please help our baby's. Without a medicine fast they lose all of their functions, it's start with the legs, then the arms, then breathing difficulty and the big chance to die from it because of an increased chance of long infection. We live in fear every day for losing her and for seeing her get worse instead of better. I saw a film taken from a child with SMA type II. When she was 2 year's old she crawled and could play with dolls, she could not stand. Now 20 years later she can only move 2 fingers of 1 arm. Her mama caries her in to bed and when her noes itches, she has to call her mother to help her, because she cannot move her arms. This is not a life you sih for your children. Please make sure that medicines in Trial now are approved soon and give our baby's a chance for a normal and happy life. Children with SMA are so smart and communicative, they understand everything, they are a great addition to this world. With love, Bellina Ronen Baarlosestraat 97 5923 AM Venlo 0031610020127

Submitted by: Bellina Ronen


Good Morning, My name is Harley Toner and I have a bright little boy names Marcus he just turned 3 years old, Marcus has SMA Type 2 and is not able to walk we notice there was something different around when he was one years old he stop standing and legs were very floppy like jello. Marcus was lead in to this trail ISIS and it was the best thing I have any did for my son Marcus he has shown amazing improvements because of this drug it truly helps him now Marc can walk with a walker!! take steps, climb steps crawl a lot better all because of this drug just a little push helping his muscles stay strong. I know SMA is such a bad thing for little kids but there is something we can do to make sure these kids have happy and long life's we need to approve this drug and keep getting the therapy they need. How would you feel looking at a kid who cant eat? cant walk? cant talk looks at other kids who can it breaks my heart please approve this magic medicine please be apart of this miracle. Because when I look in my sons eyes he is more then happy being able to get around with me always helping let these kids get the medicine they need. Please approve this drug!! Thank you so much! Harley Toner

Submitted by: Lizzy Boch


Unfortunately SMA has been a very big part of defining us as a family. We had a daughter that died one day before her 1st birthday from SMA. Jessica Vincent was born on October 15th, 2004 as our 3rd child. A very healthy beautiful baby girl that had two older brothers. We were ecstatic about the arrival of our beautiful girl and felt a sense of relief after a healthy pregnancy and a healthy delivery. We had no idea what was awaiting us at her 3 month check-up. The eventual diagnosis of SMA Type 1 with a prognosis of a terminal disease just rocked us to the core. We only knew one thing and that was to enjoy EVERY DAY that we had with her...for as long as we had her. We did not realize that it was only going to be for a few more months. We loved our daughter and have since had two more beautiful SMA free children, so our family is at 5...but SMA has changed us forever. I feel now more than ever that a cure is witrhin our reach. If we can accelerate the clinical trials and raise the funds needed to find the cure, we can keep this from happening to ANY family. SMA CAN be cured. Please do what is necessary to prevent any more families from experiencing what we have had to experience with SMA.

Submitted by: Bill Vincent


My name is Fiorenna and my daughter Mia is 6 years old Sma type 2 When Mia was one she started to show signs of losing her motor skills .... From the age of 1 to 2 I must have seen over 20 different specialist and non of them could figure out what was wrong with her ! Finally I ask my genetic specialist to test her for SMA and sure enough that's what she had! She went from a perfect crawl to not even being able to lift her head up from the floor! Everyday I'm watching my daughter get weaker! That's why I started the Gala of Hope in south Florida and we have raised over $500,000 for CURESMA to fund research! We will never give up!

Submitted by: Fiorenna israel


Our precious bundle of joy was born at Jacobi Medical Center in Bronx, NY weighing in at 4 lbs 13 oz, 19 inches long, on January 29th 2004 at 2:15 pm, whom we named Aaron Jai McGirt. He was a perfect baby. When Aaron turned 4 months at his routine doctors' visit we discussed him not reaching his milestones. The doctor ordered a series of blood tests. As we were waiting for his results from his lab work one early afternoon we noticed that Aaron was having trouble breathing. He started to turn blue, so we called 911 and the ambulance rushed Aaron to S.U.N.Y. Down State Medical Center. Later that week his genetic testing results were put on rush. One week later we received the results and it was the most terrible news a parent can ever receive. Aaron was diagnosed with Spinal Muscular Atrophy type 1 the most severe. The attending doctor gave Aaron no more than 2 years to live. We were devastated and confused. We didn't even know what SMA was at the time. My son's genetic disorder has impacted our lives tremendously. After his diagnosis at the age of 6 months Aaron had to have surgery and have a tracheotomy and a G-tube placed, and he was put on a ventilator to help him breath. In December of 2004 we decided to move to Connecticut to be closer to my mother for support and help with Aaron and we also were able to find a long term care facility that had previously cared for another child with the same condition as Aaron. Aaron lived in the Hospital for Special Care in New Britain, CT for six years. We are very thankful and grateful for everything that Hospital for Special Care did for my son while he was under their care. Currently, Aaron resides at the Children's Hospital of Richmond at VCU's transitional care unit after our re-location into Virginia in February of 2012. Aaron loves it there and they have given my son opportunities that I do not think he could have dreamed of having. The one that makes Aaron the happiest is that he now has his own power wheel chair that he is anxious to move around all by himself with no help from anyone. He loves all the trips that he is able to be a part of and most importantly he loves all his nurses and has made many new friends. He enjoys all of the recreational therapy outings, activities and functions and he is a part of all of them and he looks forward to each and every single activity that requires him to get up into his cool new power chair. To date we have not been able to bring Aaron home because he requires 24 hour nursing and a handicap accessible home that we do not have to accommodate all of his needs. Due to Aaron's diagnosis Aaron has no movement and he requires 24 hours ventilation and nursing. He has so much equipment it's hard for us to fit him and all his equipment in a regular sized apartment. We would like to one day be able to bring Aaron home. He has been in a hospital setting since he was 5 months old, but until then he will continue to enjoy the wonderful place he calls home now The Children's Hospital of Richmond at VCU. Aaron underwent scoliosis surgery in 2012 and has had one extension since then in 2013. We decided to try and correct his curve to help prolong his life as one of his lungs is compromised and is not fully functioning. Aaron currently attends public school and entering middle school this year. When Aaron was first diagnosed the doctors told us to enjoy our baby because Aaron would not live past 2 years old, Aaron is turning 12 in January and he is a strong boy and he is OUR SMA HERO! He says that he is happy and wants to keep fighting and that is why today we continue our fight against SMA. Submitted by Myra, Ade, Aaron, Brian (SMA free) & Dylan (SMA Free) Thank you!


Submitted by: Myra McGirt


Ericka is currently 7 years old, she has SMA type 2. She has been driving a power wheelchair since before her third birthday. One of her larger struggles is attending school. She tires during the day so to still pay attention when all of your concentration and energy is now on sitting up and holding your pencil, when your friends get colds and you have to try to stay away from them, when your aid is sick and you have someone new and different trying to assist you in your classroom and in the bathroom, when you have doctors appointments that are 3 hours away so you are missing days regularly - school becomes more difficult no matter how smart you are. It is difficult even before the physical and occupational therapy appointments that take her out of the classroom because the school does not want to pay the therapists outside of school hours. To be able to gain some strength to get through her daily life without the fatigue, to be able to cough and clear your lungs and not be worried that a common cold is going to end your life, to be able to spread out appointments and not miss so much school, to not fear that your assistants will catch your leg and break it while transferring because you are stronger - that would be a blessing to her and to us. We are still waiting for the last ISIS site to start recruitment for the Phase 3 trial and are prepared to drive over 12 hours one direction because we believe that will accomplish many of her daily goals and make her life improved enough that we would drive that and more without a doubt that it is worth it. We feel it is very important for the drugs to be approved by the FDA as quickly as possible so we can have access for our all of our SMA children, and hopefully begin winning the fight against the disease instead of waiting for the end that we know is inevitable and will be much sooner than it should.

Submitted by: Marianne Hunderman


I am a 36 year old mother of 3 with SMA type 3. My sister who is now 38 also has SMA type 3. I have a 15 year old son and 2 daughters 4 and 8. When I was little my mom said I use to push on stuff to help me off the floor and would trip all the time and fall. My sister was diagnosed before me so my parents had a feeling I had the same thing. My sister had a muscle biopsy to confirm SMA so the doctors felt it was not necessary to test me and came to the conclusion that I had the same thing. I was stronger then my sister as she was wheelchair bound from the age of 7 and I am still able to walk a little and use a mobility scooter. I can remember since I am little how everything was always a struggle. I was not able to keep up with kids at school, my schedule had to be revised to where I wouldn't have to do too many steps or long halls, had help carrying my books. I missed class trips, events in the school, and all the fun stuff we love as kids. Even doing everyday things that people take for granted like getting out of bed, getting off a chair, using the bathroom is a daily struggle. I always wanted to be a mother and I wouldn't let SMA stop me from doing that too. I have worsened a lot since then as pregnancy was very hard but always try to keep going and not give up. SMA not only causes weakness and fatigue it also causes anxiety with all the what if's. If I have to go somewhere its always well what if there is stairs or what if the walk is too far. You also never know with SMA what kind of day it will be until you wake up. The weakness can be so severe that I can hardly move at all. Now that I am 36 and have 3 kids my main goal in life is to stay strong for them. Its a continued struggle as it was when I was younger now just in a different way. Having the strength to get them ready for school, take them to events and all the day to day motherly duties are always a challenge. The SMA not only effects me but it effects my family too. The symptoms I have now with SMA is severe fatigue, loss of stamina, back pain, muscle tightness, neck pain, headaches, anxiety. I cant tell you enough how much a treatment is needed not only for me but for our families too. This is a terrible disease that slowly steals all your abilities and we need to stop it!



"Why don't my legs work?" This is a question that a 4 year old should not have to ask. After her 4 year annual checkup with vaccinations, she asked "Will those shots help my legs to work?" This is a question that I wish I did not have to come up with an answer for. My name is Keanna Nichols, and my 4 year daughter, Brooklyn, has Spinal Muscular Atrophy Type II. Brooklyn was diagnosed a week after her 1st birthday. We feel blessed that we are now surrounded by good doctors, therapist, and family but we are still faced with many challenges. Her inability to walk is the least of our concerns. Our main concerns are respiratory, as those muscles are weak. She will be unable to attend school on a full-time basis because she tires so easily. We have to give her body time to recoup and rest, or she will get sick. Intellectually she is smart as a whip and very bright, however she is unable to write and color like other 4 year olds because of her low muscle tone. We have to be very careful of where and how we sit her as she easily looses balance and falls over. We are blessed to not be faced with this, but many SMA patients have feeding tubes and breathing tubes. SMA patients are very bright and they deserve a chance to experience the things that "typical" children experience. SMA does not have to be a death sentence, but we need the opportunity to give our children the drugs that can help.

Submitted by: Keanna Nichols


SMA has been very hard on our family. I had a son who passed away at 8 months of sma type one. I have a 12 year old and 11 year old. My 3 year old was diagnosed at 3 months with SMA Type one also. He has a trach and g tube. It has changed our families life very much. Please hurry and get these drugs out. Can you imagine yor baby laying in bed every day. He can't run and play with his siblings. Can u imagine having a fear that you won't be able to save your sons life if he gets a plug? Can you imagine wishing he could just get up and walk around? Having to rely on strangers coming into your home and trusting them with your disabled child. Relying on them to come to work so I can go to work or even the store. My son is strong willed. He is a fighter. But he needs those medications. Help (submitting pic story goes 2ith pic of ayden Rodriguez)

Submitted by: Sofia Rodriguez


34yo male with SMA type III. At this point, my limbs are quite weak. I lost the ability to walk about 10 years ago. A few years ago I lost the ability to self-propel myself in a manual wheelchair. I now require the use of a power wheelchair to get around. I'm getting close to the point where I can no longer function on my own without assistance. Its very difficult just to get out of bed and dress myself. If my condition continues to progress, I will probably lose the ability to do these things. Anyway, that's my quick story. I see there are several clinical trials out there focusing on children and that's great! But it would be nice to see some focus on treatments for Adults with SMA also.

Submitted by: Joel Fleischer


http://angelojamesmaglioccofoundation.org/angelos_story.html

Submitted by: Jenifer Magliocco


When people ask us how many kids we have, I want to answer, "Two. One in college and one in Heaven." Our older son was born healthy; three years later, our younger son was born and diagnosed with SMA type 1, thus introducing us to the community that is Cure SMA. Our darling younger son lived 7-1/2 healthy, engaging, "normal" months before succumbing to a simple cold. We miss him every day. Our older son has not been tested to determine if he is a carrier, but that thought lurks in our minds, especially if he marries and starts his own family. We are only one family but we know our story is shared by so many others. Our hopes for the future are that families do not have to suffer the heartbreak of losing a child to SMA and children with SMA have every chance to live a long and healthy life. Please meet some of the beautiful, smart, funny children with SMA and know how urgently their families and our world need new therapies and approvals.



My son Dylan just turned three years old. He was diagnosed with SMA type 2 just after his second birthday in July 2014. Dylan has never been able to walk. His strength has decreased significantly in the year since his diagnosis, and continues to decrease. He used to be able to creep a short distance while holding the sofa, but can no longer do so. He also can no longer crawl or push himself up to sitting. I spend much of my time carrying him up and down our stairs, carrying his wheelchair in and out of my van, which is also impacting me physically as my back is now affected. As a parent, it is heartbreaking to see your child unable to participate in the things that other children can do. Our other children do activities, while Dylan gets left behind. This situation has impacted us financially as well. I have not returned to work as I have decided to stay home with him in order to take him to his physical therapy and occupational therapy sessions. Since we do not qualify as low income, we are not able to receive much assistance with durable medical equipment, except for the limited items that insurance will cover. Everything else we have had to pay out of pocket, so we have had to be very resourceful. We are also concerned because we will need to move to a one story home in the future, but cannot afford to buy or rent anything in the area. Our family has been learning to make the best of the situation, however a cure for SMA for Dylan would make such a difference in our lives. To know that Dylan could enjoy the life of a typical child, or at least an improved, longer life, would be an amazing dream come true.

Submitted by: Angela Chau


October 15, 2013 is a day my family will never forget. It was the day we learned that our beautiful and precious granddaughter, Alice, 13 months old, has Spinal Muscular Atrophy Type 2. Our son called us in tears that his daughter has this neuromuscular degenerative disease. We were all devastated because the prognosis for this disease ranges from having a short lifespan to all manner of potential illnesses. From respiratory problems to inability to swallow to poor immune systems, etc. This varies greatly from person to person. In addition to these issues, the common denominator of this disease is ever decreasing muscle use as a result of the motor neurons being damaged, dormant or dead. Imagine a small child having to understand that their fate is to live their entire lives in a wheel chair and relying on the benevolence of someone in their lives helping them with simple functions that the rest of us all take for granted. Imagine not being able to comb your own hair or brush your own teeth. Or having to wake someone in the middle of the night to turn you in a more comfortable position. How would your life be if you couldn't go to the bathroom on your own? Or feeling isolated on the school grounds because you can't run and play with the rest of the children. These are the challenges that everyone with SMA faces....and more. In the last several years great strides have been made by various pharmaceutical companies to help people with SMA to either stop the progression of the disease or to minimize health issues that plague these poor souls or to totally eradicate this disease. The FDA is the last frontier/hurdle these potential drugs need to overcome. In many cases, the efficacy has long been proven in the children with the worst case scenario and yet the pharmaceutical companies are taking endless amounts of time to bring these helpful drugs to market because of the arduous measures that FDA imposes on them. In spite of being given orphan status for some of these drugs, there seems to be little forward movement. As we watch our children growing weaker, hopes for a solution seems to be beyond everyone's reach. So with this understanding I respectfully implore that the FDA appreciates the urgency to push the drugs through FDA in a more timely and less arduous manner. The entire SMA community worldwide, would be forever grateful to the FDA organization for expediting these much needed treatments and truly giving us all the hope we so desperately need.

Submitted by: Eilene Lepofsky


My daughter, Sara Rose Greene, has SMA 1 and is almost 13 years old. She is vent dependent, g-tube fed, and needs full assistance with every aspect of her life. We are so excited for all these promising clinical trials to help the new SMA patients as soon as possible. We are also very eager to try any treatment that may help our daughter improve with any aspect of her life...breathing, swallowing, talking, movement. We sure hope compassionate use of treatments for SMA be granted to type 1 patients that do not qualify for any trial currently available. Each and every day is a blessing and each and every day we don't know if it will be the last. We feel the odds of a better life and the knowledge gained with my daughters possible treatment from compassionate use would be very beneficial to her, our spirits, and to the SMA community. Please be kind and gracious to the SMA Warriors and give us hope and options as fast as possible. Thank you. Christy Greene

Submitted by: Christy Greene


My husband was diagnosed with SMA type 4 at the age of 63. There is no cure, there are no treatments. There is some research going on but not for adults with SMA. This 6'4" 190 lb vibrant, physically active man wasted away to 120 lbs within 18 months of his diagnosis, unable to do anything for himself. He died of aspiration pneumonia 2 years after diagnosis.



Hi, I am a 38 year old female and have sma type 2. Any type of treatment for this horrible disease would mean everything to me. I have never known a day of independence and need help with even the most basic tasks like getting out of bed, taking a shower and getting dressed. I am getting progressively weaker over time. This year alone I've lost the muscle strength to open some of the fingers on my left hand. I am tired of having to adapt to a new normal and I am tired of living in the constant pain that results from not being able to move my body. I would give anything for a chance at a treatment.

Submitted by: Carolyn Abel


On January 6th 2007, I was sitting in the corner of a small office at Johns Hopkins Hospital, looking into the eyes of a young couple with their 2 year old son. There was a mysterious look of concern on their faces, or maybe it was confusion, As I watched the little boy struggle to return to a standing position after picking up a ball that had been thrown to him by Dr. Crawford, I realized, the information they were about to be given, was not what they had hoped to hear. Dr. Crawford had just spent the better part of several hours playing with the little boy, analyzing his every move and performing some necessary tests. They knew there were some mobility issues, but continued to hope they were correctable. There was a sense of relief when Dr. Crawford re-entered the room and said, "Don't get rid of your college fund", followed by, "If he finds the right girl, he may be able to walk down the aisle". The little boy had just been diagnosed with a form of muscular dystrophy known as Spinal Muscular Atrophy. The sense of relief was quickly replaced with a feeling of concern when they were told that their son would lead a life filled with challenges. He would struggle to go up and down stairs, he would not be able to run and activities that we consider normal for children would not be a part of his future, unless, through research, a cure is found. What made the situation so unreal was that the couple I had been watching was my own son and his wife. The little boy was my grandson, Julian. I know we all had the same questions running through our minds. How could this be real? What can be done? Is their a treatment? For me, there was one more question. What could I do? For the following two years, I volunteered to be a captain of the annual Stride and Ride Fundraiser. During that period, our team raised $60,000. This was designated to be applied to research. But, I felt a need to do more. I wanted to help other programs and could only do this by starting my own charity. On July 16th 2008, "Our Little Jewels, Inc." was started. We will help fund programs that give physically and mentally challenged children a chance to live a better life, through swimming, therapeutic horseback riding and track and field programs. This will be a tremendous organization if you help support us. Please, Help Us, Help Them! Sincerely, Jim Lewis President "Our Little Jewels, Inc."

Submitted by: Jim Lewis


Sofia, like most other children with Spinal Muscular Atrophy, was born seemingly healthy. She battles SMA type 1. We were very fortunate that she was diagnosed as young as she was at six weeks old, so that we were able to get all the equipment needed to prolong her life. SMA, a disease we had never even heard of until diagnosis, is now the ruler of our lives. It dictates where we can go, when or whether can take Sofia out, who comes into our home, and causes constant emotional torment. Germs, once a mere annoyance, are now like monsters that we constantly fear will steal our baby from us. Last year we nearly realized that fear when Sofia fell ill. She had recently had gastronomy tube surgery, and seemed to "sputter" during meal times, so we called the hospital thinking she may have aspirated her infant formula. We were advised to take Sofia to the emergency room for chest X-rays. They concluded that Sofia hadn't aspirated but had focal pneumonia on the lower lobe of her left lung and sent us home with antibiotics to treat her at home. A few days later, we found ourselves calling 9-1-1 at 4:00 a.m. Sofia was retracting so hard that the bed shook, and her oxygen and heart rate plummeted. Our then six month-old baby girl was admitted, and the following day was intubated in an emergency in an effort to save her life. She was confirmed to have contracted RSV. We lived day to day for those first two weeks wondering if Sofia would ever come home. Her left lung collapsed three times and her right one once during that time. Once she improved, extubation was unsuccessful, so we chose for her to have tracheotomy surgery. It took an additional three weeks for recovery, weaning off narcotics, training for us, and home ventilator trials. Our family was fractured during the six weeks Sofia was admitted, as my husband and I alternated staying with Sofia and our older children. After that hospital stay, life has never been the same for Sofia and us as a family. We live in unending fear for her life and grief at each thought of a future without her smile, whether it's because she loses the ability to do it or leaves us forever. We have to be extremely mindful when trying to hold her when it should come naturally to just scoop her up for cuddles. We now have nurses in our home 24 hours per day, so we no longer have privacy as a family. Sofia's room has become a supply closet rather than a bedroom since her bed doesn't fit in her room with all her equipment and supplies. Our living room looks like a hospital room since that is where Sofia spends all her time. Our home has a revolving door for nurses, respiratory therapists, occupational therapists, physical therapists, and orthotists. It takes tremendous effort to take Sofia anywhere if we dare even brave public places with her. It takes up to an hour just to gather and load her "ICU" into our vehicle, which is not equipped for such a large volume of things. If we go somewhere without Sofia, we feel extremely guilty for leaving her and the worrying is relentless. As an SMA community we are hit hard as well because we are surrounded by death. It's been a rough year. Every time one of those children passes away, we grieve for them, their families, and Sofia. Sofia is closing in on seventeen months of age and has the most precious smile and shining personality. We try to give her so much affection that she knows only love. We love our daughter Sofia dearly, and despite how difficult the SMA lifestyle is, we would do anything to see her grow up. I wish every day that this disease could be eliminated or even made less severe. My dream is to see my girl breathe on her own, hold her head up, sit upright, and eat, preferably using her own hands. To most it doesn't seem like much, but it would mean the world to us!


Submitted by: Courtney Roeckel


My name is Krystal Yates and my daughter, Peyton, has SMA type 3. She was diagnosed at age 4. There isn't a day that goes by that I don't hope and pray for a treatment and cure. Here is our story... At around the age of 2, we started noticing odd symptoms with my second daughter. She tripped and fell down a lot. I was constantly telling her to pick her feet up. We started noticing that she used her knees and hips differently. It took two years of constant effort and looking for new opinions to get a diagnosis. Once diagnosed, we were able to get some help with mobility and long-term care. She has always been an active girl, participating in several sports and playing the violin. She can swim and ride her bike. She really is amazing. We don't let SMA get us down on most days. But there are many days that SMA gets the best of us. Whether it be an injury from a fall, a mean fellow student at school, or a trying situation on the field or ball court, SMA still needs to be stopped. I want my daughter to feel like she can do anything, but she is slowly getting weaker. Her little spirit is slowly getting more defeated everyday, with each new snicker, mean remark, or rude look. Sometimes simply stepping up on a curb or climbing the smallest step down is a challenge for Peyton. We are always worried about her falling. SMA is a part of our every thought. We are hopeful for the future not only for our daughter, but for the thousands of friends in the SMA community that need it just as bad. They deserve a bright future and a chance to be just like anyone else. Most people take for granted what kids and adults with SMA dream about. Being able to breathe on their own, sit up, walk, or run. Simple things in life that mean so much. We believe in the research being done and the FDA approval process. We just hope the bright future that we know is on the horizon comes sooner than later.

Submitted by: Krystal Yates


We first learned of SMA when my two year old granddaughter was diagnosed last year. I am a retired cardiologist but neither I nor my physician friends had heard of this disease previously. Now we are painfully aware of this horrible disease and all of its consequences. We were very fortunate that our granddaughter was started into a drug trial, and we are very hopeful it will help. I would like to submit my plea to the FDA that you do everything possible to streamline approval for drug treatments that are currently in the pipeline, and are looking extremely encouraging. You must understand how desperate we are, and time is running out for so many of these kids. Please, please do what you can to speed approval. Once the safety profiles look good, please allow compassionate use. Thank you.

Submitted by: Don Pacini


My name is Murat Topoglu .I am a medical doctor and acupuncturist in Turkey for 30 years. I have a son who was born 14th. of february 2014.Now he is almost 18.th months old) He has SMA Type 1 (Spinal muscular atrophy) .We realized his arms and legs was not moving when he was 2 months.It is a very painfull situation.Please accept any drugs for us.Do not work with many papers.Because he is dying. Truly yours, Dr. Murat Topoglu M.D.

Submitted by: Murat topoglu


Kelly was born a healthy, happy, eight-pound baby. In her first year we had no idea that she would be diagnosed at age one with a condition called Spinal Muscular Atrophy. She never wanted to crawl or walk, so when she turned one, Kelly's pediatrician referred us to the Muscular Dystrophy Association clinic. Through a muscle biopsy we learned that she would never walk and would live a short life. We were told to make the most of her second year because that was what was probably left. She went on to surpass what the doctor predicted and lived 18 beautiful years. Although she never walked, she maneuvered her power wheelchair like nobody's business, from the time she was two years old! She was smart and feisty, a delightful child. She spoke as though she could walk. For example, she would say, "I walked into the room and ..." She never wanted to be treated differently and hated when people pitied or babied her. Kelly began school at the age of two. She participated in the local public school's pre-school program until she went to Kindergarten at our Catholic school. The principal was hesitant to allow Kelly to attend, but Kelly took the Kindergarten readiness test, aced it, and charmed her way into the principal's heart. She loved school and was active in Brownies, Girl Scouts, choir, even cheerleading, (of which Mom was her team's coach). She loved acting and took classes in it, which led to her love for the performing arts. She loved and appreciated many genres of music. She attended her first "rock" concert at the age of seven! Her family took her to see the Hanson Brothers. Since then she attended countless concerts, plays, and musicals. When High School loomed, Kelly wasn't sure if she wanted to follow her older sister to an all-girls Catholic High School. We visited our local public High School, but Kelly didn't feel a connection to it. She ended up deciding to attend Marian High School, where her sister Megan was attending. It turned out to be an excellent choice for Kelly. She quickly became involved in many activities, but fell in love with the Marian-Rice Players (the theater group with her school and the all-boys school next door, Brother Rice). Kelly started out helping with advertising. She found her niche when she became a student producer. She enjoyed all the responsibilities associated with being a producer, as well as the close bond developed with the cast and crew of the show. MRP gave her a sense of belonging and acceptance that she had never felt before (outside of her family). Kelly was a bright student. Schoolwork came easy for her. She was a gifted writer, but also excelled in Math, Science, and French. In her sophomore year of school, Kelly's Science teacher suggested that Kelly attend a summer science camp at Central Michigan University (her parents' alma mater). Kelly jumped at the chance because the camp was a Forensic Science camp, something she was very interested in. Kelly loved to watch CSI and loved mystery. She attended the one-week camp in the summer of 2007 and knew she'd found her career. She came home and researched colleges that specialized in Forensic Science. She wanted to become a CSI! In her search, Kelly found a program at Florida Gulf Coast University in Fort Myers. It was not just a coincidence that she found a school that met her needs in Fort Myers. Kelly loved it there! She'd been visiting Fort Myers since she was seven, when her grandparents first moved there. Kelly wanted to move to Fort Myers from the first time she visited. It was warm all the time and snow was never in her way. Kelly's cousins also live in Fort Myers. Her favorite cousin, Devin, took her to Fort Myers Beach in the spring of 2008, where she received a tattoo! She was so proud of that tattoo. She never


mentioned it to her Mom, but her father was in on the whole thing, went with her so he could authorize it, and smirked about it when they came back to Grandma's house. When she drove her wheelchair, she would drive with her wrist so that the star tattoo on her wrist showed prominently. The girls back at school wouldn't believe she'd gotten a tattoo. They thought she drew it on every day with a pen! But eventually they believed it and came to know that Kelly had another dimension. As they coined it, Kelly was considered a "bad ass"! This is not something Mom encouraged, but once we saw how Kelly's esteem was boosted by it, we realized how important it was to her and came to accept it. Kelly never flinched when she got that tattoo. She said it didn't hurt. This child had been in the hospital more than twenty times in her life. She'd been poked and prodded more than we'd care to remember. Yet she took on the pain of that tattoo and never looked back. Her sister Megan decided to get a star tattoo on her wrist in memory of Kelly. When Megan got her tattoo the day after Kelly's funeral, she said it hurt so much that tears were streaming down her face! Kelly was a tough kid! Kelly was easily admitted to FGCU after graduating from high school with honors. Her dream was to attend FGCU and live in the dorm, without Mom! So after much research we found out how to arrange to have an attendant stay with Kelly during the night so that she could have her independence. FGCU was wonderful and helped us every step of the way. They arranged to have students help Kelly during class with things like getting her books and notes out of her backpack. Her Resident Assistant was helpful in making sure Kelly had what she needed in the dorm. Housing even added automatic door openers so Kelly could get into her dorm and into her own room with her key card. Her biggest fear at this point was that she didn't know a soul at FGCU. That first night Dad and Mom moved her into her dorm room, she was in tears (a rarity for Kel). She didn't think she had the courage to go out and meet anyone. We encouraged her to attend the welcome dinner, then left her so we could get some dinner. She spoke with her sister in Michigan, who also encouraged her to get out there and meet people. Kelly emerged from her room, went out to the patio, and was immediately surrounded by a crowd of students. She was never alone from that point on. The group labeled her the leader. They set up weekly movie nights and card nights, played games night after night, and joined the Residence Hall Assembly and French club (just because she liked the food-she wasn't taking French anymore!), Kelly attended her first week of classes, then woke up ill that Saturday. Mom took her back to their rented condo, where she became progressively worse. We had the home health nurse come by, who assessed Kelly and said she should get to the hospital. She was admitted that evening. They told us she probably had a urinary tract infection and treated her for that for two days. She was feeling a little better by Tuesday, so they released her. But by Wednesday morning she was feeling terrible, worse than ever. Back at the hospital things went quickly downhill. Once she was in the ER, her mental status soon became altered. She was never herself after that. She wasn't aware of anyone around her, she was just fighting for her life. It was the scariest thing we've ever lived through. After a day of test after test, Kelly was admitted to the ICU, where they said her liver was failing because she was in septic shock. She had a blood infection and they didn't know how to stop it. They tried everything, but couldn't pinpoint its origin. She got through the night somehow, but we knew it was bad. In the middle of the night Mom called


Dad, who had just flown back to Detroit, but was booked on the next flight back, to get Megan on that flight, too. Kelly fought all day, but to no avail. As Dad and Megan were traveling to the hospital, Kelly stopped breathing. Dad and Megan arrived shortly after. It was the worst day of our lives. We will never forget our precious girl. She changed our lives in so many ways. We'd never had to care for someone with a disability, much less raise a child with one. It was never easy, but Kelly's joy for life made it essential that we live each day joyfully.

Submitted by: Tom Goff


Our only daughter was diagnosed with sma type II. At the time we thought that was the worst feeling of our life but since we have learned that the worse is seeing her on daily basis while she cannot do a lot of things which we all take for granted in our life. The worse feeling is that she is loosing her ability all the time and there is noting other than a good care plan that we can do for her. It is like the person you love the most, gradually dies in the front of your eyes and it hurts that you can do nothing about it. We desperately need a medicine and we know that the scientific community is getting very close to produce one. In fact there are now agents which give a small or modest improvement. The smallest of improvements mean a lot to us. While I understand that FDA wishes to act properly and protect us and the patients by doing a proper job, but what we do not understand is the delay and the haggling on the effectiveness of the drugs. Even the smallest improvement which would be hopefully a sign of stopping or slowing down degeneration matters to us. THIS IS WHAT FDA DOES NOT GET, I am afraid. We need you to speed things up. We are desperate and fear that FDA does not understand our situation at all. The intervention that might have a let's say 10% positive effect on my daughter today, might have far less effect next year. This hurts when even 1% improvement is almost life saving for us. I ask FDA to act more urgently, speed things up and try to understand our frustration.

Submitted by: Hassan Dr Sobati


With the number of people and now adults living with SMA increases, it's critical that we look for treatments and therapies for individuals who are looking to maintain or improve their muscle strength so that they can continue to be as self sufficient as possible in their normal daily activities

Submitted by: Brad Nunemaker


Dear FDA representative; I write to you because as a parent of a child with SMA, there are few things I can do that can drastically improve the life of my child. But my hope is that by writing I can influence those who have some ability to do just that. I believe that it is within the power of the FDA to help my child with a cure or treatment that means more than an improved way of life, but an improved chance to survive to live life as they should. SMA is a cruel disease. You watch as your child grows older yet grows weaker. You watch as your child becomes too week to eat enough and must go under surgery for a g-tube. You watch as their spine grows crooked requiring surgeons to cut them open to put in braces in their back so their bodies don't collapse and crush their lungs and heart. You watch as muscles waste away and form contractures for your child who should have their whole life ahead of them. You watch and worry as the smallest cold could turn into pneumonia and/or death. Don't get me wrong, the lifespan of a child with SMA has increased drastically through the hard efforts of those like CureSMA who, with doctors, have developed a standard of care that have made huge differences in the lives of kiddos and families, however, don't mistake that for being enough. But there is hope. Research and understanding of the mechanisms behind SMA has led to advances that will lead into many, myself included, see as an SMA free future. The purpose of my letter is to ask for your help, to help my son and all the other kiddo's with SMA live to see that future. Every pause, every delay means more and more children with SMA dying when just around the corner a treatment was almost available. I understand that there is a process for reviewing drugs to make sure they are safe and tolerable and that steps must be taken, but there is always room for improvement, there is always a way or consideration or answer that shortens the time from when we discover a drug with the potential to help to when it can be provided to those who need it the most. There are already mechanisms designed to help, yet cannot be leveraged, like compassionate use for amazing drugs, like Isis Pharmaceuticals SMA drug. What we need most is for you to figure out a way to approve those drugs that have potential for those who need it the most. At the end of the day, when you are having dinner with your family and are looking at your children, grand children, brothers, or sisters. Please think and imagine how it is like in our shoes if one of your family members had SMA. Think about what you would do if it were within your hands to approve a drug with tremendous potential sooner, because you helped change the process to be faster, more efficient; that you provided an alternative to get drugs to kiddos sooner by improving the terms of compassionate use; that you did everything within your power to make a difference and save the lives of children. All I ask, and I understand it is no small thing, that you don't sit back and rest on your laurel's, but think about things, small or big, that can make a difference in shortening the time it takes to approve SMA drugs. Thank you for your time and consideration. Jason Collier

Submitted by: Jason Collier


I am 67 years old and was diagnosed with SMA Type IV Adult Onset in 2007. My symptoms started at the age of 40 but in the past 10 years I have begun to have dehabilitating symptoms! I cannot climb stairs, walk without a walker and I fall or trip so easily that when I do fall I have no muscle control to catch myself and I cannot get up without assistance. Rising from chairs, toilets and low items is very difficult! I have lost strength in my neck, back, arms, hands, legs and feet. Each year I continue to have less muscle control and realize the difficulties that are ahead for me! I know that this disorder is extremely severe for infants and children and that all research is directed toward a cure for them. But at the same time I really wish that some research could be done for adults that have been diagnosed? SMA has greatly affected my quality of life and my family also! I cannot participate in activities involving my daughters and grandchildren, I cannot take care of my home or yard or travel as I use to do and my relationship with friends has been greatly affected! I'm grateful for the blessings I have had in my life thus far but feel that I could have had many more in my "golden years" if I had not been affected by SMA. A cure would help so many infants, children and hopefully adults in the years to come so I hope the clinical trials will continue and are successful in helping so many people! Thank you!

Submitted by: Beverly Smith


Life can change on a dime. Our family of five was complete with the birth of our 3rd child and first boy in March of 1999. It was clear from the day Griffen was born that he was special. Being the first boy, I was amazed at the energy and excitement that he brought to our family. Griffen met every milestone-early! He was walking by 9 months and talking up a storm by 18 months. He had tremors that were worrisome but negative EEGs and MRIs put us at ease. Griffen continued to amaze us in every way. His teachers loved his curiosity and his friends enjoyed his social nature. He participated in every sport he could and loved every minute. By 7 years old he started trying out and making some travel teams. This is when we realized something wasn't right. Griffen fell all the time and his running was getting slower not faster like all the other boys. His coaches were getting frustrated and we were getting scared. We decided to see a neurologist again and more tests were ordered. It was a full year and many invasive tests later that we got the diagnosis, SMA type 3. We were so scared, but actually very relieved. In 2007 there was so much known about the disease that had never been know before, we were sure it would not take too much of Griffen's functionality before a treatment was found. There were so many ways it could have been much worse! Griffen handled he dx amazingly well. He was eager to tell people about what he had and as a family we began fundraising. Griffen had the opportunity to explain the disease to his classmates, a pre-Med class at Princeton University and on "The Charlie Rose Show!!" By 11, Griffen wasn't able to participate in sports with his school peers any longer, so he joined Wheelchair and Ambulatory Sports!! He had a great run for a few years participating in national competitions, but by the time he was 14, he wasn't able to compete in that world either due to lack of both upper and lower body strength. Now, Griffen is 16. He is smart as a whip! He started taking AP classes in his sophomore year acheiving the highest scores possible and will be taking almost all AP courses this coming junior year. Almost 9 years after diagnosis and there still isn't anything to preserve his functionality. We have moved to a 1 story home, converted a bathroom, put in ramps and are working on ordering his 2nd wheelchair in 5 years. As a single mom, I am still able to lift him from a chair and the floor, but a hoyer lift will be our next big purchase, followed by a modified van. Griffen isn't sure how he will make college and driving work for him, but I can tell you WE WILL find a way. Griffen is a very unassuming young man. He will not be happy when he reads this as he will consider it hubris, but as I always tell him "that's the job of a mom!" It is hard to watch Griffen lose function when a treatment is so close. Every day the treatment is delayed life gets harder for Griffen. He doesn't complain and isn't bitter, none of us are. We still know how fortunate we are that Griffen is in our lives and that his condition (type 3) doesn't affect his life expectancy, but we also know how much a treatment will mean for him. Our hearts go out to all those still patiently waiting for a treatment or cure that will change the lives of so many.

Submitted by: Beth Kingkiner


My daughter was diagnosed in February of 2013 at the age of 17, with SMA 3. Bethany is one of the lucky ones with a mild case of SMA from what I'm understanding. The reality is that she has symptoms that keep her limited on what she can do as a young teenager. She didn't start having symptoms until her freshman year. Her legs starting getting weak and tired. some days they felt heavy. Hard to go up stairs in school, and had several falls coming down them. We dismissed it as growing pains. Symptoms progressively worsened as she got older. Bethany now has tremors in her hands and some days are worse than others. I do believe she had some kind of symptoms at an earlier age but didn't put anything together at that time. She has graduated high school this year (2015) and is now in college. She doesn't let this disease get her down. We are very proud of her and her perseverance. But there are so many children out there that are not so lucky as my Bethany. We as parents would love to see this disease cured and let so many unfortunate children have a fighting chance in life: as well as my own child. Kids shouldn't have to worry about when they will be in a wheelchair. They just need to be a kid and enjoy life. I bet if anyone of the FDA board members had a child with this disease they would want a rush on a cure/treatment for their child. May God guide them to help our kids.



My name is Monika Lemeshonok, I was born on January 27 1986 in Belarus, city Mogilev. I was born completely healthy child and like all the children started walking at the age of 1 year, I could stand near the crib and walk when I was hold the hand, I was a very active child. But a few months, my mother began to notice how my legs began to weaken when I rested in a chair. My family showed me to a neurologist in the Minsk hospital. At the age of 1.5 years I was diagnosed with SMA type 2 (Spinal Muscular Atrophy), which was later confirmed by genetic DNA analysis. It is a terrible disease affects nerve cells in the upper part of the spinal cord that results in atrophy of the leg muscles and back and then to the loss of movement completely, the person ceases to walk and move. But in spite of my disease and physical difficulties from SMA since childhood my mother told me that you need to believe in miracles, live and enjoy life. And I've always believed that in one day will happen miracle and I will cure and be able to walk. From early childhood, I loved to draw. I was painted all around. I started with the teachers of painting in art school, and then graduated of University in my city - specialty Fine Art, I received Excellent diploma. From childhood, I gave my personal exhibitions of paintings in many cities in my country and abroad, and help me in this, my mother. Now I have 19 personal exhibitions. Many professionals and art lovers appreciate the artwork on my art exhibition; my works are in private collections in Europe, Asia and America. On one of my exhibitions have helped to me contact with famous professor and neurologist from Moscow Leonora Grinio, who was engaged in embryonic transplant of fetal tissue for people with neuromuscular diseases. The first time I got to her for treatment in 1999 at age 13, where I was made embryonic transplantation of fetal tissue using an injection under the skin. My treatment by Professor L.Grinio was a real miracle for me - I realized that I have a great chance on the way to a dream to be healthy. I was treated by L.Grinio embryonic fetal cells from 1999 until 2003. In 2004, my professor Leonora Grinio introduced me to academician of the Russian Federation Gennady Suhih - Director of Institute Biological Medicine. And from 2004 to 2011 at the Moscow Institute of Biological Medicine I conducted transplantation of embryonic stem cells into muscle. After this treatment I got stronger muscles of the thighs, my weight began to increase, I do get sick colds and viral diseases now never, I have always strong energy. 5 years ago I finished treatment of stem cell in Moscow, because my body has become stronger and my professor L.Grinio finished medical activities due to illness (she is now 87 years old and she does not accept patients). At the time she told me about gene therapy - treatment which in the future will be cure people with SMA and maybe even cure them completely. Then I did not know which country to seek this treatment, I had no contacts of doctors and clinics. But one year ago, I saw an article on the internet about what to Nationwide Children's Hospital in Columbus, Ohio began the first phase of clinical trials of gene therapy for children with SMA type 1, which has so far been successful. I look forward and I hope that in the near future I will be enrolled on the clinical trials of gene therapy, because I believe in a miracle that the dream of my life has finally fulfilled. Every day I pray that all people with SMA cured once and I believe - my prayer will be heard from heaven.

Submitted by: Monika Lemeshonok


Ten years and ten months ago, our son, our first born child, was born with SMA. Ten years and eight months ago, he died. He was only seven weeks old. At the time, the genetics of SMA were understood, but poorly explained. In our case, it was even more difficult, as my husband was not demonstrably a carrier of the gene. Several years, and several genetic tests later, we were still at a loss why our son would have died when only one of his parents (me) was a carrier. Looking to have more children, we were only told that at best, we had a 1 in 10,000 chance of having another child with SMA, and at worst, 1 in 4. Substantially different odds - and terrifying. Finally, six years after the loss of our son, we found the University of Pennsylvania - which had a genetics program that could at least assist us in understanding our likelihood of having further children with SMA. After several more tests, and sending in the blood of my husbands parents, we found out through specialized testing that my husband was indeed a carrier of the deletion that causes SMA, but he had two copies of the gene on his other allele, which made it look like he was not a carrier. Why is this important? Because of our odd genes, we were not a candidate for the PGD option that other SMA carriers have. With our kids, we had to 'wing it'. As it turned out, we had two beautiful healthy girls, but it was not an easy road getting there. My point is, that though we have come far in the development and application of genetic data, there are still many mysteries to solve. And until there's a cure, our best ally in the fight against SMA is understanding it.

Submitted by: Ryan Luttmann


Imagine looking at your perfectly healthy and strong baby and then all of a sudden noticing that something isn't quite right and being told that he has a very severe disease that is going to rob him from all of his strenght before he even has the chance to enjoy life as a typical child and that his life might be cut short by making it too difficult for him to breathe on his own. This is our story, this is my son's prognosis. As a parent, when you are told this, you immediately stop breathing and we have not taken a full breath since that day when we received the devastating news that they could not even treat this disease let alone cure it. Our son has SMA type 2, we were told he was strong being able to stand supported and crawl but he quickly lost these abilities after his diagnosis. Never have we ever felt such an overwhelming feeling of helplessness and fear. Every day, we are consumed by the thoughts of what's going to happen and what IS happening to his little body that seems so perfect. We are constantly keeping an eye on him so he stays safe, doing his stretching exercices to prevent any contractures, assuring he has his time in his special equipement so his body stays in good shape for as long as it can, doing aqua therapy to keep him moving and strong and to eleviate some of the stress off his spine. For us, it is constant worrying, constant researching and constant care. I can not imagine how the parents of the type I children manage every day having to assure around the clock that their child's oxygen is up, gtube feedings, suctionning, etc. What an awful, devasting disease...it NEEDS to stop, we need a CURE now! This is an URGENT matter. These kids deserve to play, to breathe, to smile on their own! They tell us to have hope that someday, there will be a cure...that day needs to be today! We try so hard to stay hopefull and we do have hope that SMA will someday be a thing of the past but what does this mean for our little boy who is deteriorating before our eyes and all of the others who are sick today? What will his body and abilities be like by the time a drug is approved? Time is of the essence and these children do not have time because their motor neurones are weaking every day and the treatments they will eventually receive will saddly not be able to erase some of the effects of this harsh disease because it'll be too late for them. These treatments need to go through the process in a very fast manner because for some kids this means the difference between being able to sit or stand, or even walk and for others it means being able to breath without a machine or eat and actually taste and enjoy their food. It means idependence for our children and well deserved quality of life! It's a chance to live a long, normal, healthy life! For ourselves and for most, if not all, of the parents in the SMA community, these treatments are well worth many risks possibily associated to them long term in comparison to the effects of this disease. These treatments need to go through the necessary processes in a fast track pace in order for all families to get their lives back and assure the best possible life for these children. We want to see this generation fully benefit from treatment and better yet a cure! The Melanson family

Submitted by: Stephanie Melanson


Hola señores de la FDA: Soy Rocío la madre de Isabella Azul Duarte López de 2 años de edad, quien tiene AME tipo 2. Somos de Argentina, Buenos Aires, aquí la tratamos principalmente el Hospital Garrahan, y formamos parte de una asociación de familiares, FAMILIAS AME ARGENTINA. La AME es una horrible y devastadora enfermedad, y aunque en números uno puede decir que afecta a 1 de cada 6.000/ 10.000 bebés nacidos vivos, en realidad el impacto es mucho mayor, creo que incalculable, ya que no sólo impacta en los afectados con la enfermedad, sino que como una bomba afecta todo a su alrededor, el medio físico, el medio social. Impacta en la familia, muchos hablan de la familia enferma, ya que los tiempos y organización de la familia cambia, la vida social, cuando hay tiempo para ello, cambia, la casa cambia, muchas veces si las familias tienen el poder adquisitivo deben mudarse a barrios más adecuados con las condiciones arquitectónicas básicas necesarias y con una casa apropiada donde si los niños con AME tienen la fuerza necesaria para movilizarse con el andador o la silla dispongan del espacio para ello. La familia debe adaptarse, y la madre o padre que pase más tiempo con el niño debe convertirse casi en un enfermero que sepa saturarlo, realizarle los ejercicios respiratorios, asegurarse que tenga la posición adecuada, que pase tiempo de pie, que su nutrición sea la adecuada, y muchas veces debe estar preparado para resucitar a su propio hijo. Aquí a los niños y adolescentes con AME les decimos guerreros, ya que son guerreros de la vida, luchando día a día para vivir. Y los padres y familiares somos leones que nos enfrentamos a la enfermedad, los sistemas de salud y a lo que sea por ellos. Isabella es una hermosa niña, muy inteligente que no se merece esta horrible enfermedad, no quiero este presente para ella, pero menos quiero un futuro con AME, donde poco a poco pierda sus fuerzas, ella merece ser feliz, tal vez hasta bailar como lo hace desde su andador estirando sus bracitos para bailar con migo.. pero con sus propias piernas.. Quiero una Cura para la AME, o un tratamiento eficaz, hay excelentes científicos trabajando en ello, pero los tiempos con esta enfermedad son crueles, y al mes muchos nenes mueren, no todos tienen tanto tiempo. Confiamos en que ustedes no solo controlaran que los tratamientos cumplan con los requerimientos de salud sino que sean aprobados lo más rápido posible y que lleguen a quienes lo necesitamos. Hello, gentlemen of the FDA: I am Rocío the mother of Isabella Azul Duarte Lopez 2 years old, who has SMA type 2. We are from Argentina, Buenos Aires, here we mainly Garrahan Hospital, and are part of an association of relatives FAMILIAS AME ARGENTINA. SMA is a horrible and devastating disease, and although numbers one can say that affects 1 in every 6.000 / 10.000, the impact is actually much higher, I think incalculable, as it not only impacts the affected the disease, but as a pump affects everything around him, the physical environment, the social environment. Impact on the family, many speak of the sick family as time and family organization changes, the social life when time permits, changes, the house changed often if families have the purchasing power must move to more suitable areas with basic architectural conditions and if appropriate home where children with SMA have the capacity to mobilize in force chair walker or have the space for it. The family must adapt, and the mother or father to spend more time with the child should become almost a nurse who can saturate, Give you the breathing exercises, make sure you have the proper position, spend time standing, that their nutrition is adequate, and often must be prepared to raise his own son. Here


children and adolescents with SMA we say warriors because they are warriors of life, struggling every day to live. And parents and family are lions we face the disease, health systems and do anything for them. Isabella is a beautiful girl, very intelligent he does not deserve this horrible disease, I do not want to be present for her, but less want a future with SMA, which gradually lose their strength, she deserves to be happy, maybe even dance as ago from his walker stretching his arms to dance with me .. but with his own legs .. I want a cure for SMA, or effective treatment, there are excellent scientists working on it, but times with this disease are cruel, and many babies die per month, not everyone has so much time. We are confident that you will control not only the treatments meet the health requirements but are approved as quickly as possible and to reach those who need it.



I was diagnosed with SMA type II at 18 months old. Despite this, I have gone on to live a fulfilling and successful life. Originally from Upstate New York, I earned a Bachelor's degree in Communications and Computer Science from The College of Saint Rose and a Master's degree in Information Technology from RPI. I now live with my beautiful wife, Laura, in Herndon, VA and work as a Software Engineer. When I was first diagnosed it was barely known what caused this disease. I always had hope for a cure, but it was always far in the future. Well, that future is now here. I know now that my generation may be the last to ever be affected by SMA. Having that happen in my lifetime is indescribably amazing. At 27 years old I know that, realistically, I'll probably never walk. Regardless, having a treatment that could give me more strength would open up so many possibilities that would drastically improve my quality of life. If I could go to the bathroom by myself, roll over in bed, unbuckle my own seat belt, or hold a baby then I could travel anywhere I want, never have to wake up anyone at night for assistance, drive to work by myself, and change my (future) child's diaper. These may sound like menial tasks to some, but to me it would be a dream come true. The greatest gift for me that would come from a treatment for SMA is for everyone around me burdened with helping me. More than anything else I would love to be the one helping others rather than having to rely on that help.

Submitted by: Kyle Derkowski


Dear FDA, As a board member of Cure SMA this disease is very personal to me. I am a mother who lost my daughter Erin to SMA at only 5 ? months of age, and a parent who has two daughters who might have children one day with SMA. The impact for new therapies and treatment has the potential to affect my family and other families for generations. The first time I even heard spinal muscular atrophy (or Werdnig Hoffman disease back then) was over 22 years ago. Since then my husband and I have made it our life's mission to actively support Cure SMA in whatever capacity to advance the awareness of and research for SMA. Our daughter Erin's memory keeps us motivated. We do not want our daughters Caitlin and Grace or any other family to ever have to experience the loss of a child the way we did. And if my daughters do have a child with SMA, my HOPE is that there will be a therapy or drug to treat or cure this disease. This would be a huge breakthrough. I share with you something that was written over 15 years ago to then Honorable John Porter, Subcommittee on Labor, Health & Human Services, Education, & Related Services, regarding the necessary funding needed to help find a cure for a genetic disease called Spinal Muscular Atrophy. It demonstrates how long I have been actively helping to create awareness, advance research, and fundraise for this orphan disease and the impact that Cure SMA has had in 15 years. "My husband and I had no reason to believe we would not have 4 kids as we had always planned. But that all changed when our second daughter Erin was born. She was only 4 weeks old when we noticed she was not moving her legs when I changed her diapers. Her overall muscle weakness caused our Pediatrician to have us see a Pediatric Neurologist. At 6 weeks old, our baby had to undergo surgery for a muscle biopsy and a very uncomfortable EMG performed for doctors to conclude our baby Erin had a disease called Spinal Muscular Atrophy. Her diagnosis was grim. Doctors said she would not live beyond her first birthday. Why? Because there is no cure for Spinal Muscular Atrophy. No treatment, no medicine and no therapy could help Erin. It was devastating for us; first, to hear that she had a rare genetic disease that we passed onto her which would mean that there was a 1 in 4 chance we could have another children with this disease and second, to hear that there was absolutely nothing we could do for her. Erin couldn't fight the winter with the colds. She got pneumonia and that was the beginning of the end. She spent 2 weeks in the hospital at 4 months old. We knew she wouldn't live long so we decided to bring her home to spend her remaining days surrounded by loved ones. We had oxygen tubes running through the house and she was too weak to take a bottle she had to be tube fed through the nose. She could only tolerate lying down. If we picked her up it would inhibit her breathing. Her older sister Caitlin was only 2 years old at the time. She would keep her company and try to hand her a rattle even though she couldn't play with it. Caitlin loved being the big sister. Sometimes it would break my heart to see Caitlin enjoying her baby sister so much because we knew that too soon she would be mourning Erin. Even with all the sadness, Erin brought us so much joy. The one saving grace about this disease is that it does not affect the children's mind. Erin was exceptionally alert and loved to smile. Everyone who ever met her noticed her radiant eyes. Erin died February 18, 1994 at 5 ? months old." Since Erin's diagnosis and subsequent death 22 years ago, the hope for SMA is very different. I am always mindful of helping to change the lives of families in the future. I am still passionately


involved with Cure SMA. I started the Chesapeake Chapter, along with my husband Gene when there were only 4 chapters - now there are over 31 Chapters! In addition, I am a board member for Cure SMA, and along with my husband and the support of family and friends, have raised nearly $4 Million for family support and research. Having 2 daughters, Caitlin (23 years old) and Grace (19 years old), I am faced with difficult discussions about how this disease impacts them. They will be faced with tough decisions in regards to having children and the impact on them if they have a child with SMA, which is very possible since this is an auto recessive disease. As a parent I may not be able to eliminate the pains of this disease but there is real HOPE in potential therapies for children with SMA. - something that was not available to me when Erin was alive. But now, 22 years later, with over 15 drugs in some form of clinical trials, we are so close to new therapies that could help a family who might be faced with the diagnosis of SMA. From no HOPE 22 years ago to real HOPE today, it brings tears to my eyes. Please be the person who is responsible for approving a therapy that will change the face of Spinal Muscular Atrophy for generations to come. Regards, Barbara Trainor Parent of Erin Cure SMA, board member

Submitted by: Barbara Trainor


Hi I'm Elizabeth and I'm a mother of twin girls with SMA type 1. Mia & Maya my beautiful angels they are 18th months old. I will never regret to start this daily battled for my girls against an illness that I hope one day close to come a cure can be found to give the innocent children a better quality life. How is a regular day for a mom who's mother of twins and both have SMA type 1? Well, not easy! Mia & Maya both had a tracheostomy and are vent dependent 24/7, G- tube for feeding and also daily respiratory treatments. We start every morning at 7:30 am with water flushes to keep them hydrated, at 8:00 am neb-treatments (albuterol and pulmozyme) to help loosen up secretions and clear their airways follow of chest physiotherapy and cough assist, we have to repeat the treatments 4 time at day . At 9:00 am we give them feeding through G-tube and run over and hour ( every 4 hours). While they are getting fed we get them dress and ready for the therapies they need such as Speech, Pt, Ot or Dt therapy. mucus plugs in their airway can happen at any time. We always need to be prepare with cough assist and oxygen if need it. We need to monitor the girls all the time and make sure their oxygen saturations stay above 91% and heart rate below 180. We do trach care everyday after their baths. Every Wednesday we change their trachs and every three months their G-tube bottom. All mentioned above is not even half of our job as a parent. I did not mention all the stuffs and equipment that we need to prepare for a simple doctor's appointment or to take them outside. I can keep going on and on with all the work , struggle, frustration and worries that we have to go through everyday, but I have faith that all the therapies and trails to find the cure will succeed if they get approved by the FDA. All the SMA community needs a little of hope for our kids, they deserve a better quality of life and free will just like any other healthy living being.

Submitted by: Elizabeth Villa


I am sharing this for my nephew Grady Landrum. I am his mother's identical twin sister. On June 14, 2015 my sister's water broke. Grady was born June 15, 2015. He wasn't breathing when he was born and after minutes passed, the doctor finally dislodged a mucus plug and we were told they were able to get Grady breathing. We were so happy but ,unknown to us all, a nightmare was just starting. Grady stopped breathing numerous times and finally after a week, with no diagnosis or any clue of what was wrong, they air lifted my precious nephew to Jackson's Batson Children's Hospital. This is where we heard those three letters, that I will forever hate, SMA. My twin sister and myself are a team and have always been. We have that twin thing that you hear everyone talk about. We grew up fixing things for each other and protecting each other and for the first time in my life I couldn't fix this! I was there for her and Grady every chance I got. The doctors said Grady had SMA type 0/1. One month after Grady arrived they moved my sister and her husband into a room in the hospital to begin showing them how to take care of Grady when they released him to come home. They never got the chance to bring him home because he died that night. He was a month old and never got to set foot in his home. Thanks to SMA he never had a chance...not one because nothing could be done. I've done my research on SMA and it stuns me that so much money in poured into research for other diseases but not for SMA. I also realized how almost no one had ever heard of SMA myself included. I am learning and educating myself on SMA so I can teach and inform others. I am sending you this story for Grady. Please help us. Children born with SMA should have more of a chance than Grady had. I am also attaching Grady's picture.

Submitted by: Christy Long


Please find out text version of story http://csma.org.ua/comics/scen_full_Ukr_Ru_EN.pdf and Our story in comics format accsessible here http://csma.org.ua/comics/comics1_en.pdf Thank you in advance for a putting it and share. Warm regards Vitaliy

Submitted by: Vitaliy Anonymous


Dear Sir/Madam, Our only child Gabriel is suffering from SMA; initially we struggled for many years and visited over 7 different doctors and specialists in various cities and states to find the causes of our child weakness and inability to perform as a normal child of his age he was three years old at that time. We spent almost two years before he was diagnosed with SMA. Immediately we tried to educate ourselves about the disease, and shockingly we learned that there was no available treatment. For many days and nights during many years we have endured the extremely painful reality of not being able to provide help for our son. The emotional wound in our family is constantly refreshed by the crude reality to face the fact that other children do not want to play with him, that he spends his lunch breaks at school alone wondering and watching other kids play sports and enjoy normal activities, that he is not invited to other children's homes, that he watches through a window the neighbors' children ride bicycles or play basketball on the street, that he painfully struggles to climb stairs. Simple things in life and normal basic activities for a child of Gabriel's age were far reaching for him. Two years ago, when Gabriel was 11, he was accepted to participate in the ISIS clinical trial coded CS2, which tested the investigation drug ISIS SMNRx. Since then, progressively, our son is showing clear signs of improvement, which we had never seem on his first 11 years of age. He does not fall anymore at school or at home, he is capable of climbing stairs, still with difficulty, but with more strength. The impact on his self-esteem and re-gained confidence is tangible; he has performed as an A student since 2013, won first prize in science fair competition at his school for two consecutive years, and was nominated for state science competition in 2014. His energy level allows him to ride his bicycle, and for the first time in his life, this summer he has been able to spend a few afternoons riding his bike with the neighbors' children, still at a low pace, but manageable for him that truly made my wife and I happily cry. Despite having grown in height and gained normal weight, Gabriel maintains performing on our own benchmark at home (walking around a delimited perimeter inside our house for a specified time we have been doing it for the last three years) We always thank God for this! We believe that these improvements worth so much for our family, and that they could do the same for other families suffering from SMA they have opened a window of hope for Gabriel and provided us with the energy bust that we badly needed to continue facing our challenges. We pray every day that the research and clinical trials move faster and efficiently because there are thousands of children and families like ours that endure the indescribable reality of pain and hopelessness of seeing the suffering, physical and emotional, of the ones we love the most: our sons and daughters.

Submitted by: Hugo Cordova


my story, lol i don't guess i really have a story, i have a life which is pretty ordinary and super uninteresting, which basically at the moment consists of gym and physio every day as i try to put on weight to look better for the ladies ;). I guess i could start.... with my name, Harrison kinbacher i am currently 18 years old and live in townsville Australia, I study IT at JCU and in 4 months am independently moving down to melbourne to study at RMIT, pretty keen for that, down there ill be changing my degree around a Little bit, going to do a duel degree of IT and business, ohh i also have type 3 SMA. i went into a wheelchair half way through grade 10, people ask me if i have an issue with it and i answer with no, like i could hardly walk anyway so like, it improved my life in soo many ways its impossible to hate, and also it was a bit of a character booster being the only one in high school in a wheelchair, but kek how cares. in my spare time i enjoy drinking, gaming, clubbing and dressing up fancy pretending i have money lol ohhh and i also enjoy pretending like my car is a Nissan GTR and tearing up the streets ;) (i dont actually). i played alot of sports as a kid, hockey, sailing, shooting, scoccer the list goes on but as my thingy got worst i had to stop them, but i still hit gym every day to keep active. dont know what else to say, i think i am pretty happy with my life as it is, gym and living healthy keeps me in shape, everyone is talking about theses cures that are coming out, but its like, everything i am today has been molded by this illness, take it away and i dont know what i will do. maybe i am not ready to get rid of it yet, and its kind of good lol, gives me something to work on with gym instead of just being one of those muscle heads who just get stupidly big lol. anyway this is just me, i am sure other people have had different experiences. ill email a picture of me to u guys. thanks

Submitted by: Harrison Kinbacher


Hello! Myself, Dr Prasanna Parashare, from India, diagnosed my 3 months daughter with SMA type 1. This was very bad news for my family. Just a week after the delivery of my daughter my wife developed post partum cardiomyopathy and was in cardiac failure. She has not yet completely recovered and we have come to know about this serious condition of our daughter. Unfortunately we don't have any treatment in India. She is at presently stable and has no respiratory problems. Our only hopes are the drug trials as no neurologist suggested any treatment . Since there are no trials in India the only way is to participate in trials out of India. But as per my conversation with these companies conducting trials it seems very difficult to participate. There are few trials which are in phase 3 like Isis and Roche. As the disease is rare and if these drugs are useful is it possible to release these drugs in the market soon ? Participating in trials out of India for complete duration is really very difficult. Why can't these companies have centres all over the world so that all patients with such rare disease can have some benefit? Why are there so strict rules for overseas patients? As my daughter presented so early the diseas is sever and will progress fast. Treatment needs to be started soon. At least drug like Olesoxime, a product of Roche pharmaceutical, which is neuroprotective, will help my daughter. As it is a orphan drug can we get it soon? I am sure there are many more parents waiting for such drugs. Please see if such drugs can be made available soon under rules and regulations of country of manufacturing it and country where it is required. Thank you, Dr Prasanna Parashare, pediatrician. Phone number 9970211358. Nashik, Maharashtra, India

Submitted by: Prasanna Parashare


Imagine living with a disease that slowly paralyzes you. One that steals all of your muscle strength, your ability to walk stolen before you even had it. Now imagine that you are a bright and social 4 year old boy watching literally every child around you move effortlessly as they play tag, run up a ladder and slide down a slide, play soccer, and ride bikes. This is what children with Spinal Muscular Atrophy (SMA) live with. Hi my name is Esther and I am the mom to two very special little boys diagnosed with SMA type 2. If you are not familiar with SMA, it is a rare degenerative disease that affects the motor neurons needed for activities such as crawling, walking, head and neck control, lifting your arms, breathing, and swallowing. Children with SMA are missing a gene that creates a protein the motor neurons need to live. As the motor neurons slowly die, a child with SMA slowly gets weaker and it robs the child the ability to move. The brain's cognitive functions and the ability to feel objects and pain are not affected. These kids are bright and social and love to be doing what all the other kids are doing. Their cognitive abilities are just like any other kids their age. Tanner, a bright and happy 4 year old, was diagnosed when he was 20 months old after seeing several doctors to try to figure out why he never started to walk. At the time of Tanner's diagnosis I was 7 weeks pregnant with Skyler. We had Skyler tested right after birth and sadly he was also diagnosed with SMA when he was 10 days old. Just after Tanner turned 2, despite our constant fight to keep his strength, he lost his ability to crawl. He would slump over on the couch and not be able to sit up again, instead he called to us for help. He kept getting weaker and we felt helpless. Right now the only chance of treatment is to get into a clinical trial. Only the lucky few who happen to be the right age, live in the right distance from a site, and haven't lost too much strength to SMA are able to participate. Tanner is one of the lucky ones. Just before Tanner turned 3 he was accepted in a clinical trial for the drug Isis-SMNrx. Since that time he not only stopped getting weaker, that alone would have made us celebrate, but he started getting stronger. He started to be able to go from laying down to sitting up on his own. He started crawling again. He started pulling up to his knees and even is able to stand without any support or bracing for a few seconds. His arms are so much stronger. It has been amazing to watch. He has gained so much confidence with gaining strength and getting this treatment has been a huge impact for good in his life. We would have been thrilled to just have this drug stop SMA from paralyzing him, but we love that it given back so much of his lost strength. All SMA kids need this treatment too. Skyler is so much weaker than his brother. He has never been able to crawl. Cannot bear any weight on his legs at all. He can't stay sitting independently for very long. I wish so much he could have gotten this treatment soon after birth before the symptoms of SMA set in. Time makes all the difference with a disease like SMA. Waiting for treatment verses getting it now is the difference between having a disability and a much, much more severe disability. It is so easy to feel frustrated right now when there is a treatment out there that works but that only a lucky few have access to. As with any parent who cares about their children, the desperation to keep whatever strength their children have starts to grow. It is hard to stand by and wait when time is not on these kids side. SMA kids do not have years to wait. Kids with type 1 SMA have a life expectancy of under 2 years from the time they are diagnosed. For stronger kids like Tanner and Skyler muscles will be lost, contractures will set in, scoliosis will worsen, feeding tubes will


be placed, breathing support will be required and many will die. All could be prevented with earlier access to this treatment. I beg you to have compassion on these kids. To see the severity of this disease and what these families go through and realize that any extra risk assumed from expediting the approval of this drug is nothing compared to the effects of doing nothing and letting SMA steal precious strength. SMA is an unmerciful disease that causes paralysis and death and more than a lucky few need to have access to treatments now.

Submitted by: Esther Jensen


Up until Benjamin's second birthday, everything was going great. We were first-time parents and thoroughly enjoyed watching our beautiful baby boy grow and were excited about all of the plans we were making for his future. Then one day, we noticed he was having trouble getting up from the floor and he had been falling a lot. Thinking it was likely something simple, we took him to the pediatrician, who then referred us to a neurologist. That's when they dropped the brick on us.... Benjamin had a muscular disorder called spinal muscular atrophy. We've learned a lot about SMA since that day. And we have watched our dreams of a normal life for our son slowly drift away. The hardest thing is watching and grieving as your child loses something they once had. You hope they don't notice. You pray that somehow, just somehow maybe one day they'll get it back. But you know it's very unlikely to happen. One night three or four years ago I woke up and couldn't go back to sleep. I noticed Benjamin was getting worse and I was desperate to find something to help. Through the tears and pleas with our Creator, I finally came upon an early trial for SMN Rx. I did as much research as I possibly could, I talked it over with my wife, I asked the opinions of my friends, then I finally sent an email to see what was involved in becoming one of the participants. I never heard back. About a year and a half later, Benjamin took a dramatic turn for the worst in his mobility. He had a growth spurt where he grew 6 inches in 6 months and it was just more than his motor neurons could handle. He was losing his ability to walk. I prayed, begged, pleaded with the neurologist and any researcher involved with any clinical trial for SMA anywhere I could think of to see if we could get into a clinical trial on a drug that showed promise before Benjamin completely lost his ability to walk. I thought.... if I can JUST keep him walking, things won't turn out so bad. I don't want him to lose this precious thing, fragile as it may be. Unfortunately, there were no trials that Benjamin qualified for that were accepting new participants. So I had the opportunity to watch as Benjamin slowly lost his ability to walk. First down to three steps, then two, then one, then none at all. What a painful day it was when I realized he could no longer take a single step. I've tried so hard to get SMN Rx since April 2014 (when he could still take a few steps). We now even travel every six to nine months to another clinic in the state just in hopes that being on their patient database will make a difference. So now Benjamin can only stand independently for one second. Just one. And I'm dreading the day he loses that. Praying that we can get SMN Rx before that day comes. As an FDA representative, I get that you have a big responsibility and I don't take your role lightly. But SMN Rx works and babies will die without it. Kids will lose their ability to breathe without it. Kids will lose their ability to sit up or roll over with out it. Kids like Benjamin will lose their ability to walk without it. However you do this, please make this available on a larger scale to the SMA community as soon as possible. How many babies have to die before we release this cure? How many kids have to lose their ability to walk? If we don't do something soon, Benjamin is going to have to have rods put in his spine to ward off scoliosis. And he will have to get a BiPAP machine to help him breathe at night. With each new device comes heartbreak and difficulty and expense for our family. It's just one more thing that makes us different from everyone else. One more thing that prevents him from having a normal life. Please release this drug now. Either through expanded access or by just approving it, but release it. We really have NO OTHER HOPE at this point and THE STAKES ARE TOO HIGH NOT TO DO SOMETHING TO STOP IT.


For the rest of my life I'm going to live with the guilt that I didn't push harder to try to get Benjamin into the clinical trial back when SMN Rx was in phase 1. If I could only turn back time. But the story can get better. It can have a happier ending. My wife and I don't have to cry ourselves to sleep anymore as we realize he's lost something else. You can do something to help Benjamin and other kids just like him. You can step in and give Benjamin the opportunity to get SMN Rx and see what it does. At a minimum it will stop the progression of the disorder. And if that's all it does, that is more than enough. Just to finally know that this is as bad as it's going to get would be a relief that you could not imagine. Please let us be able to use SMN Rx. Please. With each month and year this drug stays off the market, so many children die or lose abilities. It's all needless and unnecessary. Please.... imagine if it were your child. Imagine what it's like to have your child ask you, "Daddy, will I ever walk again?" And knowing there is a drug that might at least help your child keep the ability to stand for just a second. It seems like such a small thing, but it would be one of the happiest days of my life on the day I knew he wasn't going to get any worse than he already is. Please. Please open this drug up either through Expanded Access or putting it out on the market. In an interview with Jim Cramer, the ISIS CEO basically said we have to let a few children die on the placebo in order to "prove" SMN Rx works (https://www.youtube.com/watch?v=DVopvMbbejE&feature=youtu.be). I disagree. The evidence is there. Let parents make the call. We don't have to lose any more babies. And the power is in your hands. Please let our children have some hope of a better future.

Submitted by: Jay Willis


When our baby was born, we were so happy she was healthy! As time went on, we were thrilled as we watched her roll and eventually sit up. But then, something happened. We noticed at about a year that she wasn't doing the things her little buddies were doing. No crawling, no standing with help... nothing. She is now 19 months, goes to Physical Therapy 2-3 times a week, has daily sessions at home, and also has Occupational Therapy monthly. A few days ago we learned the reason for my daughter's weakness. She has SMA 2. Before our eyes, all of our dreams for our child vanished into thin air. When you have a child, you picture them running in the park, riding bikes with friends, heading off to college independently, walking down the aisle. You never imagine that your child will live their entire life knowing they are heading downhill. There is nothing to look forward to. There is no improvement to be had. Your child, and you, are powerless to fight this cruel disease that slowly but surely will put them in a wheel chair. They will lose leg function, then arm function. They will probably need feeding tubes and breathing tubes. They will eventually need to be cared for 24 hours a day, paralyzed in a body that will not work. PLEASE increase funding to cure this especially cruel disease. Our children do not deserve this. Thank you.

Submitted by: Emily James


My little great niece has just been diagnosed. She is only 19 months old and deserves to have a future. PLEASE help her to fight this disease and live a long and productive life.- instead of the grim predictions we are getting for her now. The FDA can cause new treatments to happen. Do it! Help us. This is a sickness that is at the heart of our whole family and will impact all of us.

Submitted by: Virginia Otis


Three months of time is a blur for many of us. It is the duration of a season. We become selective of some of the memories created during the length of those three months but often lose track of the time as it passes quickly - too quickly. When Bellamy was born and finally in the arms of her mother I recall taking a deep breath and sighing relief. Twenty eight hours of labor was over and both my wife and my daughter were safe. Her name was Bellamy Vida and she was beautiful. She was named Bellamy after the last name of one of our favorite musicians, and Vida was to pay homage to a loved one on Bryanna's side of the family. Later that day a nurse noted that Bellamy demonstrated "low muscle tone" which means she wasn't moving her arms and legs very much. I chalked it up to exhaustion but quickly learned it could be a much more serious matter. She was taken from us and put in the ICU at the hospital she was born. I remember being confused but not yet scared. All the ultrasounds had shown good results so we felt confident of Bellamy's health. As family continued to visit the room I would go ask the doctors to bring Bellamy back so we could play with her. I recall their reluctance, but they always satisfied my request. Finally a doctor pulled me aside and explained the severity of the situation. Bellamy would have to be transferred to another hospital. Fear sank in knowing my daughter would be at one hospital and my wife recovering from labor in another. I vowed to my wife to spend my days with Bellamy and drive back to spend my nights with her. She told me to stay with Bellamy. We were in an emotional tug of war broke but just one day after giving birth the doctor agreed to discharge my wife so we could be with our daughter. My wife was experiencing full emotional, mental, and now physical pain having to walk around, rather than heal in bed. We arrived at our new hospital's NICU and sat at Bellamy's bed side for four days straight. She was born on a Saturday and we learned on Tuesday from the medical team that she was diagnosed with Spinal Muscular Atrophy. My first question was about life expectancy, the answer to my inquiry "not good." My wife and I told the medical team we would do everything to ensure that Bellamy knew she was "loved and would be as comfortable as possible." With that information our deepest fears were realized and we were provided with more information about the "number one genetic killer of infants." We were fortunate both sets of our parents were at the hospital and we began the grieving process that day. We also continued to love her and make her as comfortable as possible. After spending a few moments with our folks I went into "dad beast mode" and found the first the NICU nurse I could see. My request was to take my family home as quickly as possible. We left Thursday afternoon to begin life at home and it was wonderful. We felt like a family with a healthy new born. Bellamy's swallowing and breathing were excellent as noted by the frequent check ups with the doctor. This was of concern because what ultimately takes the child's life is when the muscles for respiratory and swallowing become too weak the infant can't survive. The rest of May and most of June were full of nothing but happy memories. My incredibly strong wife finally had some time to heal. Bellamy began to show her true personality. She loved music, playing with friends and family, and going for walks. It was on our walks we noted that her eyes were fixated on the tree tops as the leaves rustled in the wind. We used to laugh as she would stare for the duration of the walk at the tops of those trees. She got to go on Sunday drives, picnics at the park, went to the beach, and even watched airplanes take off at a small airport. She was


incredibly loved and was comfortable. In late June we had a scary incident of non-responsiveness and were back in the hospital. The Sunday morning of the incident she was playful and energetic. That night she passed out in my arms. I had to resuscitate her on our kitchen table. We found ourselves in an emergency room. The team there decided to transfer her. We arrived at the hospital at 4 am and again, we would stay at her bedside for multiple nights in a row. The first morning of our second hospital stay I recall crying for about two hours straight. I can usually manage my emotions but I was so tired and scared that the tears poured out. I felt I had stared Spinal Muscular Atrophy in the face. We had been winning battles but this was the first time I realized we were going to lose the war. We watched as our brave daughter was poked and prodded for tests once again. She looked tired and weak but would still manifest a smile every once in a while. The team at Dartmouth-Hitchcock in Lebanon, NH did everything they could to continue to help Bellamy. She was discharged with an NG tube for feeding, a suction machine to help her manage the secretions she couldn't swallow, oxygen to help her be comfortable and we would have to have her on a pulse oximeter (which measures her heart rate and oxygen levels) twenty four hours a day, seven days a week. It hurt me to see the physical reminders of her struggle with this disease but they were there to help her be comfortable. We were there so she was loved. This was the beginning of the end for our beautiful girl. Over the duration of the next few weeks her fatigue evidenced and it was painful to watch. What amazed my wife and I was her ability to continue to communicate so effectively. Her eyes were so bright and emotional. In them we could see when she was scared, happy, or just content where she was. She used to stick out a little finger when she wanted physical touch and we would put one of our fingers in her little hand. She could still grasp tightly. We had one more visit to the doctors and they said that the Spinal Muscular Atrophy had been taking its course. She was described as "fragile, frail, and lacking reserves for breathing." My wife, sister in law, and I left that visit motivated to serve as the additional reserves for Bellamy's comfort and continued to make sure she was loved. So we returned to the ICU which was her bedroom at our house. We gave around the clock care including feedings every three hours, suctioning her secretions at all times of day and night, and increasing and decreasing the level of oxygen to keep her comfortable based on the indications of the pulse oximeter machine. We listened to music, danced, and read her stories. We savored every minute. She was loved and was comfortable. On Thursday July 30 I was at work and received a text from my wife that something seemed different about Bellamy and that I should come home as soon as I could. I replied "will do, and tell her daddy loves her." When I ran up the stairs to her bedroom she was sleeping and I planted a huge kiss on her cheek. She immediately awoke and I remember how big and beautiful her eyes were. They sparkled. I remember how she looked at her mother who spent so much time caring for our baby. Her eyes that night communicated how much she loved us and she even gave us a few smiles. They also communicated that it was time for her to go and that her fight against that awful disease was ending on her terms, not the terms of the disease. In her last week she got to see all her grandparents, aunts and uncles, and her cousin. We were glad for that. In her last hours it was just the three of us and that is how we wanted it to be. I know Bellamy wanted it that way. My


wife held her as she had done every day for the duration of Bellamy's life. It was one of my favorite scenes to see the love they had for one another. I curled my body around the two of them massaging Bellamy's head. That evening her oxygen and heart rate began to decline. We whispered how much we loved her and that it was okay for her to go. We kissed her incessantly. In her final moments we sang the lyrics to her favorite song "Peanuts" by The Four Seasons. The lyrics "I love you and I'll never let you go" left our lips and fell upon her ears as she drifted peacefully to sleep forever. No longer in physical discomfort, her spirit left this world to a place of happiness and peace where she is surely playing with our loved ones who have gone before us. Bellamy was loved and was comfortable. And so that is the story of our past three months. We have so many incredible memories with our daughter. We also have endured devastation and heartbreak. We know she had to go, and that we fulfilled our promise that we had made to our daughter. My wife and I feel her presence every day and know she is with us. To find her we just open a window or go outside and when the breeze makes the leaves at the tree tops dance, and the wind caresses our cheeks and frills our hair, we know it is Bellamy whispering "I love you." It makes us smile.

Submitted by: Eddie Marceau


Our beautiful grandson was diagnosed with SMA Type II one year ago. There was no family history of this devastating disease. Our son was born and raised in the Midwest and his wife was born and raised in Thailand so the "chances" of this genetic disease affects the entire world. He seemed perfect for several months but seemed slow at doing some usual infant tasks. At one year of age I insisted the doctor have him evaluated as he could not stand. The doctor said " he is a boy and sometimes they are slower". There seems to be a lack of knowledge about this condition in the medical field. Most SMA children are not diagnosed correctly at first. Often it is not discovered until the child is almost 2 years old and many families have already conceived a second child who has the risk of this . They misdiagnosed him as having low body core muscle tone and began therapy. A simple blood test could have identified SMA. In June of 2014 they moved to Italy and found a new doctor for him. Immediately he was sent to a neurologist who after testing confirmed SMA. It was devastating and yet a relief to know what the true problem was. Italy has provided excellent care. Currently my son must pay for all of his physical therapy because his condition is not "curable". The therapy is so very important to maintain any muscle strength possible. My son's insurance is with a large US Company and I understand this is common practice with Insurance Companies. Why would they not want to provide help to all children???? Why is it consider non curable? I If treatment begins at an early age it can help so very much. If children would be tested with a blood test at birth (all babies are tested for many things) it would be a step in the right direction. Anthony is our first and only grandchild. He works so hard to do what other children can do with ease. His parents are terrific. They provide excellent home care and support. The clinical trials are so important. It will mean that someday we might see Anthony stand and even take a step on his own. At 2 1/2 he already says "I can not walk". It breaks your heart but he smiles a wheels off in his wheelchair. We are fortunate that we have had Anthony this long. Our hearts go out to the parents who have lost their children before they could find a cure. We just retuned from a visit to Italy and miss him so very much. To watch him lose strength is very difficult. We know there is a cure it just needs to be found before it is too late for not only Anthony but the many other and future SMA children. They are such special children. FIND A CURE FOR SMA

Submitted by: Darlene Mundt


Our son Massimiliano was developing perfectly until he had 11 months. He walked with a walker (the one you push while walking, not the one you sit in) and was about to walk independently. Though within a month he lost all of his strength in his legs so that he couldn't even stand anymore by the time we had his first birthday party. A few months later he was diagnosed with SMA Type 2. Massi is now about to turn 2 years old. His upper body is still strong and he even can still crawl which we're very grateful for. Massi is our first son and not seeing him walk and not being able to do activities with him one always dreamed of before becoming a parent is very hard. And it will probably get harder as we see same-age kids grow. We're excited and hopeful about all the treatments in development, especially drugs like ISIS-SMNRx, which seems to have a visible positive effect (if not scientifically proved). We hope that the Phase 3 clinical trial for ISIS-SMNRx is as short as possible and that decisions are made pragmatically, e.g. revising Phase 3 results even if not all participants completed it yet and preparing its commercialization if first results are positive before the trial's full completion (which has been done for other drugs). Every month SMA patients could access a drug like ISIS-SMNRx earlier could change the course of their lifes dramatically. Obviously halting the progression of SMA would already mean a world to us. But I think as parent one cannot stop dreaming about making improvements and reaching new milestones. In our case a drug like ISIS-SMNRx could mean allowing Massi to stand again and maybe even do some kind of walking exercises where he uses his still existing upper body strength.

Submitted by: Steffen Hiller


Dear FDA, Meet our 1 year old firstborn son. He's a smart, precious wide eyed gentle soul taking in the world with his navy blue eyes. He can do little else. He cannot sit up, hold his head up, move his legs and barely move his arms. He is quickly losing his beautiful smile as Spinal Muscular Atrophy Type One has taken most of his muscle strength. We fear that it won't be long before he is unable to breathe on his own and treasure every moment we have with him. Upon diagnosis at 5 months old we entered him in a promising clinical trial for ISIS SMNrx, and were given so much hope. Now 7 months later as we watch other SMA children in the trial excel and gain tremendous strength, we sit and watch our son wasting away. It is unfortunately clear that he is most likely receiving the placebo injection and he will die if nothing changes. The emotional toll of a terminal diagnosis coupled with the frustration of a placebo clinical trial that has proven positive results has been suffocating to our family. We grieve daily for our struggling son as we watch SMNrx building strength in other children participating in the trials. SMNrx gives hope when there otherwise is none for Type 1 children and yet our son’s time is running out. Compassionate use of SMNrx could change our family story and bring hope and restoration to so many children affected by SMA. Please do not wait to push this medication through. Time is not on our side. Our children deserve to live, our son deserves to live and to his fullest potential with the help of SMNrx. Thank you for taking the time to read our story, our everyday reality.



Our daughter Natalie it two years type 2 SMA. She was diagnosed in December 2014 and since this time we have noticed a steady and terrifying decline. She has lost the ability to almost sit independently she is tired and weak her posture is poor and her arm and leg strength have all deteriorated. Without a cure or FDA approved treatment the future for our baby girl is bleak and terrifying. The need for a treat met. Is now, valuable time for our kids is running out as our daughter gets weaker and other type 1 children pass away without treatment. This diagnosis has been devastating and every day we are reminded of how our child will weaken and deteriorate over her lifetime. We implore the FDA to act and allow us to treat this terrible and devastating disease for our daughter and other children with SMA.

Submitted by: Meredith Essex


We are a type1 SMA family (which means our daughter cannot move any part of her body, her mind is fully functional). Meet Ella Lanay Hunt age 4. She is the youngest of three kids (two older brothers). We did not know we were carriers of this disease and obviously already had two unaffected children. Ella was showing signs of delay in typical milestones such as holding her head up. It took ONE day of testing to tell us our child has an incurable and untreatable genetic disease and likely had months to live ONE day of testing to shatter a lifetime of hopes and dreams. To say we need a treatment and a cure is putting things lightly. Kids are dying Every. Single. Day......and more are receiving diagnosis. Our mission is to create awareness and raise money for research. We will never stop believing in her total healing. Ella is spirited and adventurous. She loves to travel, play dolls, color and be with friends. She constantly smiles through her eyes. Sheloves her life. Hands down. But we know if she could move her body she would be even more fulfilled. She cannot swallow, cannot breathe on her own and cannot pick up a toy. We need urgency for a drug to help preserve life. We need the new families being told take your baby home and hold them (She will die in your arms or her sleep) to be given treatment options instead. We need brothers to no longer watch their sister turn blue not knowing if she's going to survive. Dont forget us please! Please keep fighting for our children!

Submitted by: Erica Hunt


I understand that FDA has a role to protect the public from medications that may be harmful. But, when you are dealing with a disease as debilitating and deadly as SMA type 1, the risks of medications are inconsequential. By forcing SMA treatments to go through the same process that the FDA follows for headache medicines, and treatments for restless leg syndrome, etc., the FDA is "protecting" SMA patients to death. FDA and the companies developing treatments for SMA need to be bold, take a little bit of the risk that patients and families want to take and give us access to the first treatment for SMA.

Submitted by: Rick Hall


Letter to the FDA: As an individual who lives with SMA I applaud the the many years CureSMA has worked to raise money to further research for pharmaceutical companies to develop treatment, and eventually cure SMA. I hope to one day benefit from treatments that are currently awaiting FDA approval. A treatment would mean less physical dependence: I received a good education and eventually became gainfully employed despite my neuromuscular condition - I commuted 160 miles round trip for my job, alas my condition progressed where I couldn't work. I use a power chair and rely on attendant care for my basic needs, such as bathing, dressing, assistance with food, etc. We need the FDA to approve treatment to give those with SMA the opportunity to financially and physically thrive and to become less dependent on people and devices to live a purposeful live. The bottom line is FDA approval for drugs to treat Spinal Muscular Atrophy would greatly benefit me and all with SMA. I would appreciate any push toward this effort! Respectfully, Nadine Flores (SMA type III, onset at age 3).

Submitted by: Nadine Flores


To Whom It May Concern, I am the mother of a two-and-a- half-year-old son who was diagnosed with Spinal Muscular Atrophy (SMA) Type 2 at the age of fifteen months. As long as I can remember, I've wanted to be a Mom. My husband and I were together seven years before we had our son. We waited until we were settled and organized so we could devote ourselves completely to him. He was born and we were instantly in love. I was happier than I'd ever been and couldn't believe the love I felt for this child. I remember thinking that I loved him so much it made my heart hurt. We were first time parents and it had been awhile since I had been around a newborn. We didn't notice the subtle signs that something was different. He could barely lift his head up to do tummy time. I researched different methods of tummy time, I even brought it up at his doctor appointment. I was told it was normal for kids to complain about tummy time but to just keep doing it. I made sure to work on it on a daily basis. I used different books and toys so he would remain interested....nothing helped. We waited for him to start to crawling. Everyone kept telling us it would happen. I brought it up at his nine month doctor appointment. His doctor gave me the option of contacting Early Intervention or just giving it some time because "it could change, he could start crawling next week". I told myself I needed to calm down, to stop reading all the baby books and websites with these strict time frames for milestones. All kids are different, right? Eventually, we called in Early Intervention, the PT that evaluated my son contacted me later that same day and suggested we see a Neurologist and a Geneticist. She said she didn't want to scare me but that she felt something was off. After a few tests came back negative my husband and I had genetic testing and found out we were carriers of SMA. My life and world as I knew, stopped on the day we received our results: April 20, 2014. Nothing has been the same...nor will it ever be. It took me around four months to come out of a deep depression. I was heart broken for my baby. Everything I had dreamed for my son was suddenly impossible...or so it felt. I couldn't look at our backyard and swing set without collapsing onto the kitchen floor, sobbing, thinking I would never see him walk on the grass or climb the slide. We purposely bought our house because of the yard as we had envisioned our future children running through it. I realized I would never hear his footsteps on our wood floors. All I could do was think of all the things he would never experience and it pained me to no end. I was twenty-six weeks pregnant with our second child when we learned of our sons diagnosis. We had no idea if our unborn child would also have SMA. So many thoughts went through our heads; what if this child was also affected, would it have the same type? How could we possibly take care of two children with this disease? It was too much to handle, I couldn't even think about it. I suddenly felt unattached to the baby I was carrying. People told me to just enjoy the pregnancy and I shrugged them off...I could no longer feel happiness. There is nothing more painful than watching your child's physical strength (and overall health) decline from the day they're born.This is not how life is supposed to work. It's one thing to hear of an older individual with failing health - they've most likely had the opportunity to experience life. As a mother, my job is to protect my child and fix things. There's only so much I can control with this disease. We went to our local MDA/SMA clinic the same week we received his diagnosis. We got the recommended breathing equipment, physical therapy equipment, and started therapy immediately. We contacted Cure SMA for support and attended the SMA Conference six weeks


after my sons diagnosis. I cried as we bought the airline tickets, I didn't want to go. I didn't want to be a part of this group. We went to the conference and learned as much as we possibly could in four days. We made personal contacts and then we came back home and continued immersing ourselves in information. As far as I know, we are doing nearly everything possible for our son to have the best health and to stay in the best physical shape. Still, we watch him decline. We're sixteen months into this journey and I watch my child struggle all day long. He has never crawled nor walked. He was able to bear weight for one month when he was nine-months but lost the ability after one month. He is able to use a Panthera manual wheelchair only because of how lightweight it is. He is able to sit up on his own but falls over unexpectedly. He used to fall only a few times a week, lately he's falling over multiple times a day, every day. If his head falls backward or forward too far, he is unable to lift it back up. I monitor every single ounce that he eats and drinks, his daily vitamins, etc. Has he had a bowel movement, when was his last bowel movement. It is never ending... We are very fortunate that he is able to eat orally but I find myself monitoring his eating to make sure he doesn't suddenly have chewing or swallowing issues. As we have learned, aspiration is a major issue with our children. Once fall and winter roll around I will go back into paranoid mode regarding who steps foot in my house and what germs they may be carrying. There is nothing I wouldn't do for my son - he is my world. No matter how much I try and do for him, I can't save him from this disease. I am watching his muscles deteriorate Through all of this, we do what we can to live life "normally". We play on the swing set, we ride bikes and "run" through our huge backyard with him. He watches his baby sister crawl and walk and wants to experience it too. So we make his body crawl and we walk him down the driveway so he can experience something we all take for granted. He could not look more proud than when he has these simple experiences. We are well aware of the ISIS-SMNRx drug and how much it has helped children in the first two phases of the trial. Our community is in desperate need of a treatment that helps slow the progression of this disease. Please consider speeding up the process to approve this drug for the entire SMA community. The proof is there! Time is not on our side. Let us know what we can do as parents to speed this process along! My son is a happy, joyful, sweet little boy with a huge heart. He has so much to offer this world. Please help impact his health and the thousands of other people living with SMA. Thank you!

Submitted by: Kelly Jordan


My son , Rhithunand solomon , who is the victim of SMA,Type2 is four years old. As parent of an SMA infected , we are facing various problems in home as well as in our society. We are not even able to send our kid to the school , nor able to convince him on ,why he is not able to walk or run or do the activities which other kids of his age ,are doing . We are waiting very hopefully for a medicine that can cure the disease. After getting FDA approval it will take another good amount of time for the medicine to reach India . So we have a request to the authority of FDA to take necessary steps for approval as quick as possible , so that it can become a great relief for many of us .

Submitted by: Tintu John


Hello and thank you for listening to my daughter's story. Olivia Rose Werstein was born Feb. 15, 1997 and seemed "normal" at birth. When she failed to crawl well or try to stand, we knew in our hearts that something was wrong...after a couple of visits to doctors (also a blood test and EMG), we were told that Olivia had s.m.a...she was 14 monthsold and we were told to take her home and love her, she might live to age 2. Just like that, we went from knowing something was wrong to knowing she had a horrible disease that first would disable her and then kill her. Imagine that was your child...Olivia went through 4 major spine surgeries, implantation of a series of feeding tubes and was hospitalized at least 10 times for pneumonia. Along the way she was a smart, funny girl with a wicked sense of humor. There was a lot of fun along the way but it was always over shadowed by s.m.a. Dragging around all the equipment she needed for one. Her cough assist machine, her nebulizer, suction machine, and ventilator, her meds, supplies for her dressings, her feeding pump. You see, she became so weak that she had to have a trach so that we could suction out her secretions or food so that she could breathe. Olivia passed away June 23rd, 2015 from complications of s.m.a. The day before she died, she looked at me and said "Mom, I don't want to die"...what do you say to your child when they tell you that?. All I could do was hold her hand and cry. PLEASE help us find a cure for this fiendish disease. It robbed Olivia of a lot of the quality in her childhood, it caused so much pain that she was major narcotics. Olivia's sister, Elizabeth, now knows what it's like to watch your only sibling die. We will always grieve for our beautiful daughter who showed so much courage all of her life. Thank you for listening.

Submitted by: Cynthia Werstein


Alexander is my son, he is one year old, I had no idea what sma was until Alexander was five weeks old, I wish I would have known. The doctor said that he would only last a short time, six months at most. But he is still here fighting each day! It's hard getting up every day and watching your child get worse, I await news about the smnrx drug and every day seems like years waiting for it, the only hope that we have to help our children. If you ever held your child and cried because there is nothing you can do to help them except wait it's horrific and heartbreaking. Alexander is a happy child, but I fear the day he loses his battle, I pray every day for medication that could help him but I fear that it's taking forever and he won't receive it in time. Every day is a war with sma, every day we fight, and sooner or later we are going to need reinforcements or we are going to lose.

Submitted by: Autum Johnson


my 18 mo old granddaughter Gemma was diagnosed with sma1 in december of 2014 since then my poor granddaughter has indured so much, yet through it all she is such a happy baby and brings much joy to all our lives, our hope is they find a cure before it is to late for gemma, she has not been so good these past few months PLEASE find a cure....our hopes was that she was accepted for clinical trials so that maybe she would get the drug and get better..It breaks my heart to think this beatiful little girls days are numbered because the FDA is dragging there feet...PLEASE move to approve the drugs that can save my granddaughter and the many more suffering with sma...

Submitted by: Cathy Prescott


"Why do bad things always happen to me?" This was what my 7 year old nephew, Jackson Michael Audibert, recently asked his dad after requiring yet another trip to the hospital. When he watches tv, he hopes for the day he can run around like the kids he is watching. There are no bouncy houses or waterslides for him at birthday parties. Jax is getting older now and he realizes that he is different, that he can't walk or run or climb. Jackson was diagnosed with SMA Type 2 when he was just a little over a year old. His mother found him in his crib with a heaving chest, hardly able to breathe. He was first diagnosed with RSV and hospitalized for a week before the diagnosis was made. In between that date and the present, I will list a timeline of the effects of SMA on my nephew. The one that is the most heart wrenching is the time we almost lost Jackson. He was a little over four years old and contracted pneumonia. His respiratory system was failing and although the doctors tried everything they could, our family was called in to tell him goodbye. I still remember my brother coming over to my house and just sitting on the couch and crying. His only child, was lying in a hospital, dying, and there was nothing he could do about it. Through nothing short of a miracle, Jackson made it through, after trying both the ventilator and oscillator. Ultimately, Jax was hospitalized for three months, two of which he was intubated. Our family started a yearly fundraiser a few years ago to help raise money for research for a cure. In just 2 years, through our fundraiser and donations, we raised almost $75,000 for Cure SMA. Our next fundraiser is set for April/May 2016. We have learned that there is very promising news on the horizon, so we plan to make this an extremely successful event in the hopes of helping with this research. Jackson is a fighter and he has hope. Two qualities that all these kids have, that they need to have to keep fighting this terrible disease. He is an amazingly smart, adorable little boy who has family and friends that love him to pieces. We will all keep praying and hoping and working together to give Jax a chance to just be a kid. * 1/2009 - RSV - week in hospital - diagnosed with SMA 2 * 1/2011 - mom slipped on ice while transporting him into car; Jax broke his leg * 2/2012 - pneumonia - 3 months in hospital, 2 mo intubated * 8/2012-12/2012 - hospitalized 3 times with viruses * 12/2012 - wheelchair tipped forward off curb and face hit concrete - multiple abrasions * 8/2013 - cdiff virus - multiple hospitalizations * 12/2013 - hospitalized for a week with fever during Christmas * 7/2015 - surgery to have rod placed in back for curved spine * 8/2015 - wheelchair flipped back on ramp downslope, head hit concrete - mild concussion * 8/2015 - staph infection from back surgery - had to reopen back to clean - no school for one month

Submitted by: Anthony Cangemi


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Submitted by: Christine Sciaroni


A little over 17 years ago, our family welcomed a beautiful, "healthy" boy named Oliver. Unlike his brother, Oliver seemed to be a very easy-going baby, rarely crying. At about 5 months of age, we started noticing the he was not meeting the expected physical milestones. He was bright and alert so we didn't work too much assuming he was just different that our first child. At 6 months of age, we began to worry because he was not only not hitting milestones but he was losing ground. We made an appointment with a pediatrician who quickly referred us to a neurologist. Within a few weeks we were given a diagnosis of Spinal Muscular Atrophy type 2. We were told that he would likely not live to be two and should he survive, he would be 100% dependent on others for all of his cares. The next several years were a blur of therapy, doctor appointments, and hospitals stays. We learned about bi-pap, chest physiotherapy, feeding tubes, respiratory treatments, and intensive care units. Thankfully, due to good respiratory protocol and the amino acid diet, Oliver survived many respiratory infections. By age 10, he had less frequent hospitalizations due to great care provided by nursing care provided in our home. At age 12, Oliver had spinal fusion to correct the 90 curve in his spine. Unfortunately, the surgery that corrected his curve and provided better respiration, caused a significant loss of arm and hand strength. Around age 14, Oliver, who loved to eat even if it was just a tiny taste, lost his ability to swallow safely. Since that time he has been entirely tube-fed. This loss was especially difficult for Oliver and our family. We have been blessed to live in an area that provides 24 hour nursing for Oliver, allowing him the opportunity to grow into a young man without being dependent upon us, his parents. We have seen him learn to advocate for himself. Since he began online public education 3 years ago, he has not been hospitalized. However, the social isolation can be difficult for him as he is quite social. He is a bright, hardworking student with aspirations to attend college. He's not certain what kind of degree he would like to pursue but is leaning towards engineering, software, or biological sciences. We don't know what the future holds for Oliver but we hope that with the advanced being made, he might gain some strength back. Even a slight increase would significantly improve his quality of life. We are hopeful that these advancements will quickly be available to people with SMA. He told me that even if the only thing that treatments provided were the abilities to use his hands more and to swallow, he would be happy.

Submitted by: Lisa Huston


How SMA has affected out lives. SMA! What is SMA, I have never heard of this. Well now you have, your grandson, Cole, only 21 months old has SMA (Spinal Muscular Atrophy). Mind whirling, researching for answers, no cure, progressive, number 1 killer of infants. How can this happen to us, how can so many children be affected by such a horrific disease and I HAVE NEVER HEARD of this disears. Not only was Cole never going to walk but his little muscles were going to get weaker and weaker robbing him of his ability to move and maybe even one day breathe. How could this be happening, this is not fair, he is such a sweet and wonderful little boy. Researched more and found Cure SMA and so many other families touched by SMA. These sweet babies and their parents. The strength that they all show. How will I do this if Cole ever gets to the point medically where so many other children are. All of the equipment, care, appointments. How can I handle all of this? WITH HOPE FOR A CURE AND ONE DAY AT A TIME. THAT IS HOW WE ARE HANDLING COLE'S DIAGNOSIS AND LIVING WITH SMA. We have learned about the various drug trials and the amazing results that show us that there is a cure or treatment on the horizon, there is hope to stop the devastation that ravishes the SMA community. Living with SMA is heart wrenching. To see my grandson struggle to pick up small toys from the floor or to take a drink is some days unbearable. To watch him use of all his strength to push himself in his wheelchair so that he can play with the other children brings tears to my eyes. To watch so many babies, toddlers, teens and adults lose their battle with SMA and knowing that someday Cole may lose his battle is unspeakable weight on my heart. The parents of SMA children and the caregivers are no less than a hero in my eyes. They keep these bright eyed, amazing, intelligent soles alive every day and help them not just be there but to have a quality of life that is unlike any other. They help them experience life and enjoy it. Cole was born January 10, 2013 and was pretty healthy, a few minor issues that doctors felt would resolve themselves. Cole's kidneys dilated in the womb and was still dilated at birth. Cole also had a heart murmur at birth. The doctors assured us that the kidney issues would resolve itself and it has. The heart murmur was due to a hole in his heart and we were told it was nothing to be concerned about and so far has caused no problems. In February 2013 Cole was hospitalized with RSV and spent close to a week in the hospital. I was not overly concerned with this as we had gone through RSV and hospitalization with Cole's older brother, Tyson. He was so little but came through the episode. Then in March 2013 he was hospitalized again, this time diagnosed with Bronchiolitis. Cole spent several days there this time. I started worrying. The doctors advised us that he may have asthma but he was too young to diagnose. Almost monthly after that Cole had an episode of breathing issues which usually resulted in the need for nebulizer treatments, antibiotics and steroids. I assumed he had asthma, which he has been officially diagnosed with along with SMA. Cole was a very fussy baby and cried a lot. He had issues with formula and was seen by a GI specialist. He went through a number of formulas. I assumed he was colic. We had some early concerns that maybe something was not right. Cole did not always meet his milestones as he should but he would eventually catch up. Cole began to sit by himself at 6 months old and crawled at 10 months old (he crawls with his hands turned inward to help support himself). He never liked to bear weight on his legs and when we placed him in a walker he did not take off like the other


children had. He barely moved it and only backwards a little. By the time Cole was a year old he was still not walking, cried if you tried to hold his hands and have him stand, and was not pulling himself up to furniture. I began to worry something was not right. I mentioned these concerns to the pediatrician at his 12 month check up and he advised us to just wait and he would look at him again at his 15 month check up. I knew that each child was different but the fact that Cole did not want to bear weight and was not pulling himself up just did not seem right but we waited. Approximately March 2014 the pediatrician officially diagnosed Cole with asthma and placed him on an inhaler (Qvar 1 puff each night). This did seem to help with the breathing episodes he had been experiencing. They went from monthly to every couple of months. In April 2014 when we took Cole back in for his 15 month check up we made it clear to the doctor that Cole was still not walking or bearing weight and that this was very concerning to us so we referred to Physical Therapy. After the initial assessment at PT we were told that he had weakness in his trunk area. Again, what does that mean? By this time the tremors in his hands/arms had started. At first we thought maybe he had low sugar and tested him several times but that was not the problem. After we were told he had weakness in his trunk area I went to the computer to try and find answers because no one was really giving us any. I wanted answers. Muscular Dystrophy popped up as a possibility. I spoke with Cole's therapist around the third session to see what he thought might be going on. The therapist advised he could not give or make any prognosis or diagnosis and I understood this but I also knew that he had to have some ideas rolling around as to what was going on. So I pushed a little and I told him that I had been on the computer and that MD had been a possibility. He responded with that was one of the things that had been going through his mind. Cole was to go back to the pediatrician in July but the therapist and I felt Cole should go back immediately and I would ask for a referral to have him checked for MD. I expected to get hesitation or delay from the pediatrician but when I took him in June he gave me no resistance and made the referral to Nationwide's in Columbus (Neurology Dept.). Our first appointment was June 26, 2014 - the doctor could not find a knee reflex (which had be3en present at his 15 month check up in April). She ordered a bunch of blood work and urine test. She told me she thought he would walk and did not feel he had MD. Later that day she called back and said they were going to order a Brain MRI. We completed the blood work and urine test the following Monday and the MRI was scheduled for July 23, 2014. Our follow-up appointment was August 22, 2014. By this time Cole's legs were very bendable (I'm not sure what else to call it), its like he had nothing stopping their movement. You can almost move them anyway you want to. We received a call prior to the August 22, 2014 appointment stating that the Brain MRI was normal, with the exception of some sinus issues, and what labs they had gotten back were normal so far. At our follow-up appointment in Augsut the doctor we were seeing brought in another doctor to consult. They also found out that all the blood test that they had ordered before had not been done so we were sent downstairs to the lab that day for that blood work plus some additional blood work. They also scheduled a Spinal MRI for September 23, 2014. Before the MRI we received a call stating that his Thyroid was abnormal and they sent us to an endocrinologist on September 3, 2014. The endocrinologist told us that they had


performed the wrong test and felt he had no Thyroid problem but that he would order another test to be completed in a couple months based on the fact that both myself and my sister have Thyroid issues. He further told us that even if Cole had a thyroid condition he did not believe it had anything t do with the concerns we had with his inability to walk or stand. He further told us that some of the genetic tests had come back with abnormal results and that we should contact the neurology doctor to find out about those tests. We called neurology that day and left a message. Within a week or so we finally heard back about the genetics test - the abnormal test indicated that Cole had an extra Y chromosome, however, they did not feel that was the problems but they would have us speak with a genetics counselor. Spine MRI done on September 23, 2014 - we received a call on September 25, 2014 advising that the MRI showed some muscle wasting in Cole's pelvic area and that another doctor was going to take over Cole's case as he felt he knew what was wrong. They scheduled him an appointment on October 1, 2014 (Dr. Tsao). No one told us anything further. Still no answers. I immediately (I know I should not have but I needed answers) went to the internet to see what muscle wasting was and what caused it. THE FIRST TIME I HAD EVER HEARD OF SMA! Everywhere I looked, all of his symptoms SMA, SMA, SMA. It was everywhere. But what is SMA, could Cole really have this disease? I felt very scared. Should I share this information with anyone else yet? No. No need to worry anyone else at this point, none of the doctors have ever mentioned this disease, in fact the first neurologist told me she thought he would walk. Wednesday, October 1, 2014 appointment with Dr. Tsao. Dr. Tsao advised us that he would be ordering another blood test and an EMG test. He further advised that if this blood test came back abnormal he would cancel the EMG. I asked him if he could tell us what he thought was going on with Cole. Still no answers - he simply said we would have to do these tests and find out what was causing the muscle wasting. During this appointment he could not get a reflex in Cole's arm/elbow area. But still no answers. THEN WE WERE BOMBARDED WITH ALL OF THESE PEOPLE. Other doctors, genetics counselor, OT/PT. What was going on? The Pulmonary doctor was advising us to get the flu short for Cole (his mother, Tabitha, is against flu shorts.) This Pulmonary doctor mentioned SMA but then backed off. My ears were listening for answers, but not SMA. When the genetics counselor came in he was explaining the previous test that they had done and the results (the extra Y chromosome) and then started explaining that the test that was being ordered that day was going to be looking at a specific chromosome. At this point I started asking questions as to which chromosome they were looking at - answer was chromosome 5. My next questions was "is the doctor looking to see if Cole has SMA?" - answer was yes. My head is spinning, no one else in the room is aware of what SMA is, how do I tell them that Cole may have a disease with no cure. The doctors that day went on to tell us that the muscle wasting was in his back, around his spine, pelvic area and upper thigh area. He also had the start of scoliosis (21% right now). My head was reeling by the time we walked out of that appointment. I had to break the news to Tabitha and my husband about what the doctor was looking for. I tried to explain it to them but I did not know a lot. We were told that the test results would be back in 2-4 weeks and that in the meantime they would be scheduling an EMG. Our next appointment was scheduled for December 3,


2014 and we were advised that if the genetics test came back abnormal they would get us in sooner (of course that did not happen we got pushed out further away with still nothing from doctors). On October 13, 2014 we received the call that Cole was being diagnosed as SMA Type 2 and that our December appointment was being moved out further to January 7, 2015. NO ONE EXPLAINED TO US WHAT SMA WAS. NO ONE PREPARED US FOR THIS NEWS. THEY CALLED US ON THE PHONE. 1. Our appointment with the genetics doctor is scheduled for October 27. Cole can sit, crawl but cannot walk. He eats well at this time but has some difficulty with meat. He is able to climb into a short chair and can get up in a v shape (hands feet on the ground butt in the air - therapist says this is because he is not putting weight on his hips or upper legs). Cole is seen by a team of doctors in Columbus approximately every 4 months. He also has a pediatrician locally that is familiar with SMA. He attends Physical Therapy and Occupational Therapy. 30 minutes each once a week. He uses a manual wheelchair to get around. This type of chair helps him utilize the strength he still has. YOU SEE THIS DISEASE IS A PROGRESSIVE DISEASE AND THERE IS NO CURE. Cole is somewhat strong for a child with SMA as he still has the ability to crawl and can still climb to some degree. But I have recently noticed that SMA has stolen some of that strength. How SMA has affected us - SMA sucks and the FDA needs to help get a cure or treatment to everyone with SMA NOW. Glenda R. Thompson Grandmother of Cole Thompson

Submitted by: Glenda Thompson


My name is Joan Palmer and I am a 65 year old woman living with SMA Type 3. I was diagnosed when I was 27 and remained walking until I was 55. I have a wonderful husband, Tom. to whom I've been married for 42 years. We have 3 children Tamsyn, Ashley and Tommy and 3 grandchildren. I have managed to do most things in my life and I wouldn't change anything I've done but now I am in a wheelchair and things have changed.

My husband and children have been my rock but as I age, so does everyone else and it is difficult to maintain the semblance of a normal life. I am unable to shower and dress myself as I once did. Someone must be there to move me from the wheelchair to my recliner, from the wheelchair to the toilet and from the wheelchair to my bed. I can no longer cook or clean which I'm sure to many that sounds like a good thing until it happens to you. Most of my basic needs are now performed by someone else. I find myself wondering what my role is now.

It is so important that the studies and clinical trials continue and that new therapies are given approval so that someone like me would be able to dance at her son's wedding. This may seem trivial to some but I wish it and pray that one day I'll get the call that there is a new therapy for SMA and I might still see that dream come true. Please think of me and the thousands of other SMA patients and their families and help make it possible for all of our dreams to come true.

Thank you for your understanding and for your help in curing all neuromuscular diseases.

Submitted by: Joan Palmer

Documents

The Voices of SMA: Appendix All Responses Voices of SMA: Appendix All Responses My husband and I were both active duty military when our youngest son was diagnosed with spinal muscular