Volume 25, Number 1 | January, 2014 · PPT1 in cultured cells from infantile Batten patients, preventing the waxy build-up but without the toxic effects of hydroxylamine. The study

ILLUMINATORTHE

Volume 25, Number 1 | January, 2014

HigHligHts of WHat’s inside

1 BdsRa Receives genzyme Pal award 4 Batten disease Research studies Recruiting subjects 7 BdsRa announces new Board Members8 news from our supporters14 Resources for family services18 in loving Memory

ouR staff

Margie Frazier, PhD Executive Director800/448-4570, ext. [email protected]

Julie C. Conry, MA Senior Director of Advancement and Outreach800/448-4570, ext. [email protected]

Becky Hetteberg, MA/LISWFamily Support Officer800/448-4570, ext. [email protected]

Chris Leonard, PhDScience [email protected]

Tracy KirbyAdministrative Manager800/448-4570, ext. [email protected]

1175 Dublin RoadColumbus, Ohio 43215800/448-4570 866/648-8718 (Fax Toll Free)

facebook.com/bdsra twitter.com/bdsrawww.bdsra.org

Rare Disease Day is scheduled for February 28, 2014. The Batten community is ready to mobilize and be out in force, on Capitol Hill, in libraries, state legislatures, and schools. BDSRA welcomes and encourages families and their extended networks to join in this year’s campaign to highlight the champions of rare disease in their communities. (continued on page 3)

organize and Mobilize for Rare disease day 2014

The Batten Disease Support & Research Association was recognized in October as a recipient of a 2013 Genzyme Patient Advocacy Leadership Award (PAL).

This global grant supports outreach programs by nonprofits that work on behalf of patients living with lysosomal storage disorders (LSDs), a group of rare, inherited diseases for which there currently is no cure.

BDSRA has been selected to receive the award to develop Multicultural Practice Guidelines for Batten Disease. With this project, the BDSRA hopes to improve the diagnostic efficiency and disease management for Batten disease patients by producing and publishing practice guidelines for medical professionals. These guidelines would utilize existing experience and expertise of the Batten Disease Centers of Excellence. The project will provide medical professionals with guidelines to inform medical care decisions and advance linkages between Centers of Excellence and community physicians and pediatricians.(continued on page 3)

BdsRa Receives Patient advocacy leadership award from genzyme

BdsRa needs your updatesTo stay connected, receive news, and link to our services, please send your current address, phone, and email to Tracy Kirby at [email protected].

mailto:lisaweston%40bdsra.org?subject=

mailto:lisaweston%40bdsra.org?subject=

2 Batten Disease Support and Research Association | 1175 Dublin Road, Columbus, OH 43215 | 800/448-4570

The BDSRA annual Family Conference will be headquartered in the Midwest for 2014. Columbus, Ohio will be the site for reunions, rejuvenation, learning, and fellowship. Mark your calendars for July 24th to the 27th and reserve your rooms at the Columbus Airport Marriott Hotel. Camp Columbus, this year’s theme, is already planning for terrific Sibs programming (thank you Megan Knight), baseball for the sports lovers (under the direction of Larry Killen), and the traditional golf outing (with the superb committee led by Randy Royalty). Online conference registration at BDSRA will open at the end of January, 2014 and room reservations under the Camp Columbus block are now open at the Marriott. Check the Camp Columbus Facebook page for updates and details.

Camp Columbus gears up for 2014 BdsRa family Conference

Receive the latest updates, learn more about Batten disease and find out how to help at www.bdsra.org. 3

PAL(continued from the front cover)

“We are deeply grateful for the opportunity provided by this award to continue the important work of patient advocacy,” said Margie Frazier, executive director of BDSRA. “Each year, hundreds of children and their families face an uncertain future as they cope with the devastating diagnosis of Batten disease. Because Batten disease has no known treatment or cure, children affected by the disease require complex and comprehensive home care as the disease progresses. Our work will help those caregivers and health providers navigate the years of medical care, therapies and interventions.”

In its third year, the Genzyme PAL Award program encourages new and innovative approaches to improve disease awareness, patient care support, and education. More than 40 patient organizations representing 25 countries submitted proposals. BDSRA was only one of eight recipients that collectively received more than $100,000 to support programs.

“Over the past two years we have been inspired by the depth and reach of the PAL awards recipients and their efforts to strengthen the rare disease patient

community,” said Jamie Ring, Genzyme’s Vice President of Global Patient Advocacy and Humanitarian Programs for Rare Diseases.

The seven other recipient programs for 2013 include the Fundación de Pacientes Lisosomales de Chile (FELCH) (Chile); China Dolls Center for Rare Disorders (China); Gaucher Association Denmark on Behalf of a Collaboration of Six Danish Patient Associations (Denmark); Foundation for Patients with Fabry Disease (Hungary); Philippine Society for Orphan Disorders (PSOD) (Philippine); LSD Collaborative (United Kingdom); and the National Tay-Sachs and Allied Diseases Association (NTSAD) (United States).

Rare Disease Day 2014(continued from the front cover)

Those who live it every day have stories of courage, power, and commitment. Be part of this landmark day to raise awareness of Batten disease, advocate for better research funding from the government, for faster drug discovery, for stronger family support programs.

Make phone calls, lobby elected officials, speak to groups in the community, write letters to the media, be interviewed on the radio, and share your story on social media. Be heard, be present, be powerful. For more information go to: www.rarediseaseday.org


ReseaRCH RounduP

Research studies and Clinical trials for Batten disease Continue to Recruit Patients

Research studies led by the Department of Genetic Medicine at Weill Cornell Medical College in New York City, by the University of Rochester Batten Center, and by pharmaceutical company BioMarin continue to seek patients to enroll and participate in three major investigations:

BioMarin has launched a Phase I/2 clinical trial to determine the safety and efficacy of rhTPP 1 (BMN 190), an enzyme replacement therapy for the treatment of children with Late Infantile CLN2 disease. BMN 190 is a recombinant human TPP 1 enzyme in development by BioMarin as an enzyme replacement therapy for CLN2 patients. Patient inclusion criteria include diagnosis of CLN2 disease, and mild to moderate disease documented by two domain scores of 3-6 on motor/gait and language domains of the Hamburg scale with a score of at least one point in these two domains, and seizures are stable. Patients who have received stem cells, gene therapy, or enzyme replacement therapy are not eligible for the study. Patients enrolled in the study follow a 12 month protocol of treatment.

The primary study objectives are to evaluate the safety and tolerability of BMN 190 administered to patients with CLN2 and to evaluate effectiveness using a CLN2-specific rating scale score in comparison with natural history data after 12 months of treatment.

The study sites are currently in Germany and the United Kingdom. Updates and study information are available at www.clinicaltrials.gov. For enrollment information, contact Janet Nuttall at BioMarin at [email protected] or email [email protected]

the department of genetic Medicine at Weill Cornell Medical College in New York City is conducting a gene therapy study for the CLN2 gene. Patients with the diagnosis of late infantile neuronal ceroid lipofuscinosis who score between a 6 and 10 on the LINCL scale in the early stages of the Batten disease are eligible for the study. If eligible, the patient would be enrolled in the gene transfer protocol for a total of 18 months.

The purpose of the study is to determine whether gene transfer surgery, in which an experimental drug called AAVrh.10CUhCLN2, is administered to the brain, can be achieved safely and whether the procedure will slow down or halt the progression of the disease. The study includes a 2 day screening visit to assess eligibility.

The study site is located in New York City. For enrollment information, contact Denesy at the Department of Genetic Medicine at [email protected] or call (646) 962-4537.

the university of Rochester Medical Center is currently recruiting subjects with JNCL for a clinical trial to learn if mycophenolate (CellCept) is safe and well tolerated in children with Juvenile Neuronal Ceroid Lipofuscinosis. The JUMP study focuses on evaluating CellCept and its effects on the symptoms of JNCL. These symptoms include unusual movements, seizures, problems with learning or behavior, or difficulty performing daily tasks. To be eligible for the study, which lasts 22 weeks, patients must be diagnosed with JNCL, must be able to walk 10 feet unassisted, be able to swallow liquid medication, have a local doctor who is willing to conduct the study, and be able to complete 4 study visits to the University of Rochester Medical Center, 4 visits to a local physician, and 4 visits by telephone. Travel expenses are paid by the study.

Patients enrolled in the study will take mycophenolate syrup twice a day. For enrollment information, contact Amy Vierhile at (585) 275-4762. More information about the University of Rochester Batten Center is available at www.urmc.rochester.edu/neurology/batten-disease-center/


Research news updates

StemCells, Inc. announced in October, 2013 the results of a four-year observation study in patients with neuronal ceroid lipofuscinosis (NCL) who had been transplanted with the company’s HuCNS-SC cells (purified human neural stem cells) in the initial Phase I study.

The study results represent the first, and only, multi-year data set of patients after the use of stem cells in human subjects. Six patients with Batten disease were enrolled in the company’s Phase I clinical study and followed for twelve months after the transplantation of stem cells. According to co-principal investigator Nathan Selden, MD, PhD, FACS, the study’s outcome shows there were no long-term safety or tolerability issues associated with the cells, the immunosuppression regimen or the surgical procedure over the five years following the stem cell transplants. Three of the six patients in the study have now survived more than five years post-transplant, and each have stable quality of life measures, according to Selden. For details of the full report go to www.bdsra.org.

Researchers at the national institutes of Health (niH) announced in October, 2013 the identification of a potential new drug derived from hydroxylamine, a molecule chemically similar to ammonia, called NtBuHA, which researchers hope will be useful in the treatment of infantile Batten disease. Researchers found after testing a panel of chemically modified hydroxylamines that the derived NtBuHA could mimic PPT1 in cultured cells from infantile Batten patients, preventing the waxy build-up but without the toxic effects of hydroxylamine. The study tested the drug in mice with Batten disease and found it slowed the loss of coordination and extended the animals’ life span. The full research study reported was published in the journal Nature Neuroscience. The full details are available online at www.nih.gov/news/health/sep2013/nichd-30a.htm.


BdsRa expands advocacy Presence at national Research Meetings

From Washington, D.C. to the West, BDSRA staff participated in multiple forums, meetings, and educational sessions devoted to rare disease during the second half of 2013.

In April, Executive Director Margie Frazier participated in a panel at the National Institutes of Health with four rare disease groups for the meeting “Gene Therapy: Charting a Future Course.” She shared insights about BDSRA funding and family participation in clinical trials with researchers working to find cures for a range of diseases from cancer to the muscular dystrophies and Batten disease. In August she attended the Dystonia Medical Research Foundation as the keynote speaker for their Annual Leadership Conference in Chicago. In Washington D.C. she participated in an Institute of Medicine panel on the Committee on the Independent Review and Assessment of the Activities of the NIH Recombinant DNA Advisory Committee (RAC). The review allows the NIH to better understand the efficacy of the RAC as it attempts to put forth the best and safest research in gene therapies. Nick Daniak, MD, Batten grandfather and father to former board member Chris Daniak, presented a heartfelt medical and first-person account of his grandson’s journey with Batten disease. Jennifer Farmer of the Friederich’s Ataxia Research Alliance rounded out the panel. Outreach and Advancement Director Julie Conry represented BDSRA at the Child Neurology Society meeting in Austin, Texas in November. She distributed BDSRA’s new educational materials for the scientific and medical community and spoke with healthcare and industry leaders about BDSRA’s research and support services. BDSRA science officer Chris Leonard represented BDSRA at the September National Institute of Neurological Disease and Stroke Non-Profit Forum in Bethesda, Maryland. A week later, Margie Frazier attended the Council of Patient Advisory Groups of the Lysosomal Disease Network, a federally-funded collaboration of lysosomal disease groups.

new law Will speed data sharing in Pediatric Research in Rare diseases

New federal legislation signed into law by President Barack Obama in November will allow children’s hospitals nationwide to work together to fight rare diseases and pursue new research.

The National Pediatric Research Network Act of 2013 (H.R.225), co-sponsored by Ohio Senators Sherrod Brown and Rob Portman, authorizes the director of the NIH to award funding to up to 20 pediatric research consortia that agree to focus primarily on pediatric rare diseases and conduct and coordinate multi-site clinical trials of therapies and treatments for rare disease. Under the new law, pediatric hospitals can team with other institutions to perform statistically valid research in disease groups that lack large numbers of subjects in a single location. The law is expected to leverage investments into research with partnerships and data-sharing to move discoveries faster into the drug and treatment pipeline. For full details see: http://beta.congress.gov/bill/113th/house-bill/225.

Margie Frazier with representatives from the Dystonia Medical

Research Foundation


BdsRa Welcomes new Board Members

Board elections for BDSRA were held in November, 2013 in which nine candidates were on the ballot for four open positions. Official results were tabulated by the accounting firm of Laubie, Karling & Associates. Board nomination ballots were mailed to all current dues paying members of BDSRA.

Elected for a three year term were returning board members Rob Geer and Tracy VanHoutan, joining new members David Pearce, PhD, Vice President and COO of Research at Sanford Health in Sioux Falls, South Dakota, and Barbara Wuebbels, RN, Vice President of Patient Advocacy and Medical Affairs for Audentes Therapeutics.

Rob geer serves in a business development role for Kelly IT Resources in Grand Rapids, Michigan. His nomination ballot statement: “I have been on the board for BDSRA for 3 years serving as 1st Vice President, head of the search committee for the new Executive Director, board selection committee and have assisted with technology, web presence and social media presence. I am also a board member for the local University of Michigan Alumni group in Grand Rapids, chairperson for our church’s finance council and have had multiple board positions on a variety of technology groups in Grand Rapids.”

david Pearce serves as Vice President, Chief Operating Officer of Research, Sanford Health Director, Sanford Children’s Health Research Center, and Sanford Research/USD Professor, Department of Pediatrics, Sanford School of Medicine of the University of South Dakota. His nomination ballot statement: “I have volunteered my time as required with BDSRA for the last 15 years in a number of ways. I have attended each BDSRA annual conference during this time. I have served on numerous advisory boards related to my employment and have related activities in research and in local communities in regard to youth sports.”

tracy VanHoutan is currently a foreign exchange trader in Chicago with Ronin Capital, LLC. His nomination statement: “I have focused on fundraising, advocacy, raising the profile of Batten at the federal level, scientific research and developing relationships with regulatory authorities and drug companies. With Noah’s Hope, we have committed over $400,000 to the fight against Batten disease in partnership with BDSRA. I have testified before the FDA, NIH, and the Rare Disease Congressional Caucus. I expect these efforts to further BDSRA goals related to funding, support programs and streamlining the path to therapies. We have funded projects including: two NCL mouse colonies, biomarkers, worldwide patient database/registry, drug screen assay for NCL therapeutics, a drug repurposing study with possible implications for multiple forms of NCL, a BDSRA IT overhaul and preclinical lab work for enzyme therapy, which resulted in the current trial for LINCL via BioMarin.” Barbara Wuebbels is currently Vice President of Patient Advocacy and Medical Affairs for Audentes Therapeutics. Her nomination ballot statement: “I am a founding member of the Wellness Community of Central Arizona, a non-profit that provides free counseling and support to patients and families with cancer. Along with the director I was responsible for raising over $1 million for operating expenses. I also serve on the parish council of St. Daniel’s Catholic Church and the Arizona Biomedical Research Commission, where I was appointed by the governor to review scientific research requests from universities and organizations within the state of Arizona.”


neWs fRoM ouR suPPoRteRs

golf outing in gaMBieR suPPoRts BdsRa

The fifth year of Mike’s Beer Bucket Golf Outing held September 8 at the Tomahawk Golf Course in Gambier, Ohio near Columbus, generated $1,800 in donations for BDSRA. Mike Smith, who has organized and supported the event since its inception, welcomed 70 golfers to a day-long four-person scramble followed by a hog roast. BDSRA Executive Director Margie Frazier and Senior Director of Advancement and Outreach Julie Conry also participated in the outing and updated the volunteers and golfers about research and family support programs for those with Batten disease.

Battling Batten disease 5K exPands noVeMBeR eVent

The Audubon Metro Park in Columbus, Ohio was the setting November 3, 2013, for dozens of families, students, runners, walkers, and volunteers who gathered for the Battling Batten Disease 5K Run and Walk dedicated to the memory of Celia Betz, the daughter of Jenni and Andy Betz. The event is organized and staged by nursing and allied health staff at the Ohio State University Wexner Medical Center, including Sara Zeller, Laura Hall, and Allison Walker. This year the event was expanded to a 5K from a walk, with Premier Sports coordinating the race logistics and course through the park.

Donations totaling approximately $6,400 were given to BDSRA following the race and raffle. Primary sponsors for the event included Grandview Dental Care, Inc., Elaine and Mike Meyers, Martin Mitchell Insurance Agency, Paul and Stephanie Harris, the Lang family, and John and Sandra Gills. Several Ohio families brought race teams honoring their child, including Mike Smith and his family from Versailles, Ohio, honoring Samantha; the Cramer family of Jamestown, Ohio honoring son Zach; and the Smerdels of Cleveland, Ohio, honoring Mason and the Holt family from Toledo, honoring Ezekial. BDSRA staff Julie Conry and Becky Hetteberg also participated at the BDSRA information table.

Margie Frazier and Mike Smith welcome golfers

Jenni and Andy Betz greet runners


CentRal oHio CoMMunity teaMs uP foR Kate BenRotH

Approximately 300 people showed support for the third annual Team Kate fundraiser October 6, 2013 in Vaughnsville, Ohio, honoring Kate Benroth held at the Community Center. Following the benefit, which featured a kid’s carnival, silent auction, raffle, bingo, and bake sale, $11,000 was donated to BDSRA. More than 75 businesses and residents in the Columbus Grove, Ottawa, Delphos, and Vaughnsville area donated products, gifts, and items for the event. Several major items, including a four-wheeler vehicle, flat screen TV, and outdoor grill were awarded to lucky raffle winners. The Team Kate planning committee included Kaye Heilman, Crystal Dunlap, Kyle Benroth, Dale Otto, Jackie Meyer, and Brock and Ellie Benroth, Kate’s parents. “They all have a great passion to help raise awareness and funds for a cure for Batten disease,” notes Ellie Benroth. “We are once again overwhelmed by our community’s generosity, compassion, and support.”

neigHBoRHood Rallies foR six-day sale foR Batten disease The Surrey family of Staten Island, New York, devoted two weekends in September to fundraise for Batten disease, raising $7,000 for research in six days of selling hundreds of items in a colossal garage sale. Sale items covered the front yard, the side yard, the garage and half of the backyard, according to Janet Surrey, mom to Michele, 24, and Lauren, 19, who have juvenile Batten disease. “I think we accomplished raising awareness and we sold everything you can think of,” she noted. Volunteers, friends, and family spent many days collecting, organizing, tagging, and selling donated goods.

tRaditions KeeP east Coast eVent BoWling foR a CuRe

Rab’s Country Lanes in Staten Island, New York, hosted the 13th year of the Bowl-a-Thon for Batten disease November 2, 2013. There were 106 bowlers in the crowd of 150 who attended, with BDSRA Executive Director Margie Frazier presenting appreciation plaques to Gerard LoVerde and Greg Cicero of Cicero & LoVerde CPA’s and Rab’s Country Lanes for dedicated volunteer efforts over the last 12 years. Fred Surrey also provided recognition for the volunteers from the Metro NY/NJ BDSRA Chapter for their long-time service to raise awareness and funds for Batten disease. Approximately $18,000 was generated at the event, which featured 47 gift baskets and an appearance by Scooter, the mascot of the Staten Island Yankees. The annual event returned to its November date after being postponed last year due to the hurricane damage to the bowling alley.

Brock and Ellie Benroth

The Surrey Family Garage Sale Team

Scooter cheers on the Bowl-a-Thon


RunneRs Round-uP

Blindfolded RunneR dediCates Half-MaRatHon RaCe to sisteR WitH Batten disease Laura King Edwards of Charlotte, North Carolina, completed the city’s Thunder Road Half Marathon blindfolded November 16, 2013 to raise awareness about Batten disease and honor her sister Taylor, who was diagnosed with the disease seven years ago. Taylor ran two 5K races after her diagnosis with the help of a guide, which inspired Edwards to attempt the longer race blindfolded to simulate her sister’s everyday challenges. Edwards trained for weeks prior to the race using a blindfold and guided by a friend, Andrew Swistak, a running coach. During the half-marathon, Swistak used a bungee cord and verbal instructions to help Edwards navigate the course. Sharon King, Taylor’s mother, also ran her first 5K at the Thunder Road event to honor her daughter.

noaH CougHlan CoMPletes seCond Coast to Coast Run in noVeMBeR

In a span of 108 days, Noah Coughlan covered 3,100 miles, 17 states, and endured many storms to complete his second national coast to coast run dedicated to raising awareness for Batten Disease. He departed from Northern California’s Half Moon Bay in July, 2013, pushing a jogging stroller and holding an American Flag and he arrived in Boston in November, 2013. He became the 27th person to run across America twice. Many volunteers, including Bernie Lilick, assisted with logistics during the trip. A reception in Columbus at the BDSRA national office was held in October for Ohio families to greet Coughlan when he passed through the Buckeye state. A documentary is planned in the future about the run.

Here are some of the highlights of last year’s journey:

Averaged 29 miles a day runningLost 25 pounds by Boston finishMet 50 families affected by Batten disease Completed dozens of newspaper and media interviewsSpoke to students in 6 schools Fixed 3 flat tires on the jogging stroller and wore 11 pairs of running shoesCovered nine mountain ranges, four time zones, and three deserts

Laura King Edwards at the finish line

BDSRA staff welcomes Noah Coughlan to Columbus

(left to right) Julie Conry, Tracy Kirby, Lance Johnston, Noah

Coughlan, Margie Frazier and Becky Hetteberg


Bequest gift insPiRed By gRanddaugHteR PRoVides funding foR ReseaRCH and PRogRaMs An estate gift of $10,000 from the late Halvard Sproger of Allentown, Pennsylvania, was donated to BDSRA in October, 2013, to support research and programs. Mr. Sproger was a lifelong resident of Allentown, served in WWII as an Air Force Major, and was a Captain for Pan American Airways until his retirement in 1985. His granddaughter, Sarah Sproger, the late daughter of Phil and Katherine Sproger, had late infantile Batten disease. According to Phil Sproger, his father was an individual who believed in supporting causes that were important to him. “Hal was a very giving person who appreciated the work performed by BDSRA,” Phil noted. All the Sprogers became very involved in BDSRA when Sarah was diagnosed in 2002, according to Phil, and his father was inspired by Sarah and her courage in fighting Batten disease. “Sarah inspired a lot of us,” he noted, “she also inspired a very successful camp for autistic children called “Sarah’s Smile” that was started by one of her nurses as part of the Kids Peace Organization.” When Phil and Katherine relocated to London for a work assignment after the loss of their daughter, the Sprogers then became very involved in BDFA in London. Katherine refined a database project for Batten disease patients linking global data to the BDSRA database in the U.S. and Phil was instrumental in generating grant support for a clinical assessment project in the United Kingdom. Phil notes that their involvement with BDSRA was a natural connection to a group that assisted the entire family during their daughter’s life. “We received a tremendous amount of support from BDSRA, particularly in the early years when we really didn’t know what we were up against,” he said. “BDSRA and all the connections were instrumental in helping us navigate through some very difficult times – particularly with the insurance companies. BDSRA support was also a life saver when dealing with all the emotional issues associated with a disease like Batten,” he noted.

“Over the years we’ve really come to realize how much BDSRA and BDFA has helped our lives. When you go through a disease like Batten, you are more or less just surviving day to day and don’t have a lot of time to reflect,” he said. “Now that time has passed we truly realize how much the organization helped us through a very difficult time.” “This very generous gift from Hal will truly have an impact for BDSRA,” said Marjorie Frazier, Executive Director. “This legacy gift honoring his granddaughter Sarah is a great tribute to her and we are deeply grateful he chose Batten disease in his philanthropy. This gift will be dedicated to the best possible purposes.”

Halvard Sproger


use tHe PoWeR of MatCHing gifts to douBle youR BdsRa ContRiButions

Corporate matching gift programs and volunteer grant programs are successfully generating significant gifts to nonprofits nationally through the generosity of employees and their families. In the U.S., nearly 10 percent of all corporate giving to charity is now through matching gifts. Many donors, however, aren’t aware their company or employer will match dollar for dollar the gifts they designate for organizations such as Batten Disease.

Completing an on-line form or a company matching gift alert can easily turn a $50 donation into $100, or a $200 donation into $400. Many companies will even continue to provide matching gifts for retirees and family members. Some companies, such as BP, will even match contributions pledged to an employee for a fundraising event, such as a 5K, or walk. If the employee raises up to $5,000 in pledges for an event, BP will match that dollar for dollar. Family members, friends, and neighbors can also be asked to check into options for matching gifts from their employers for gifts to BDSRA. Two simple steps can double your charitable gift power for Batten Disease: Check with your company’s human resources office or payroll department to see if a matching gift program is in place for nonprofit donations. Some companies post an online matching gift form on their intranet or provide a paper form. As a 501-C-3 nonprofit organization, BDSRA qualifies for tax-deductible charitable contributions and matching gifts. Retirees can also check with the companies they served to see what matching gift guidelines are in place for retired employees. Complete the on-line or paper form provided by your employer with the specific gift information requested and be sure to send a check to the national BDSRA office or donate online to BDSRA. The national office will verify the employee gift for the company so the matching gift can be completed. The power of matching gifts provides an extension of each person’s philanthropy and when employees use the programs, companies also benefit by the goodwill and positive feedback they receive in the community.

Volunteer grant programs are also increasing within corporations to leverage the volunteer work and efforts their employees contribute outside of the workplace. Verizon has a program in place in which employees who volunteer 50 hours a year may apply for a grant of $750 for the group they serve in their volunteer role.

It’s a win-win for the employee and the nonprofit group that recognizes the importance of volunteerism and philanthropy.

For any questions or assistance in completing a matching gift for BDSRA or identifying companies that provide matching gifts, email [email protected] or call 800-448-4570 ext. 14.


illinois CouPle extends tHeiR giVing tHRougH MatCHing gift oPtions

Anna and Steve Keller accrued a combined total of 63 years of service to the CITGO Petroleum Corporation before each retired nearly a decade ago. As retirees living near Chicago, they are active in many causes, and they use the power of matching gifts to help those causes they feel most passionate about, including BDSRA.

CITGO has a very generous and inclusive matching gifts program, according to the Kellers, which is offered to both current employees and those who have retired. These programs are wonderful benefits to those who use them, but often they are underused because people aren’t aware. It is the charities that are supported that gain the most from donors being able to double their gifts, they noted. “If you really feel it is important to support an organization, why wouldn’t you want to double your gift if the option is there,” Mrs. Keller said. “The paperwork is minimal, but the benefits are multiple for the charity,” she added. Donors do need to do a little research to get started, she said, which usually starts with contacting the company’s human resources or personnel office. Often a company’s website will also have a link to a matching gift website that provides the forms needed to set up the match. It’s important to also know what kind of gifts are eligible and the timelines each company has.

“CITGO has a certain budget allocated for matching gifts each year, so we make our donations right away in January of each year when we know the budget has not been tapped out, which can happen later in the year,” Mrs. Keller explained. “We also know that they will not match gifts for certain areas such as religious groups or political campaigns,” she added.

“But it is a simple process, we download and print the matching gift form from the HR website, we complete the information, add our employee I.D. number, and send it in.”

Their advice to tapping into this often hidden company benefit is simple. “Be diligent, do your research to know what is covered, go to the website or make a call. Often companies do not advertise matching gift programs so you have to search a bit,” they noted.

If a company is not aware of the nonprofit status of BDSRA it can be suggested to them to add it to their match list.

Anna and Steve Keller

faMily ResouRCes

BdsRa Can assist in naVigating soCial seCuRity disaBility Benefits systeM

When a child has been diagnosed with Batten disease, the immediate and extended family is often launched into a complicated healthcare, insurance and benefits scenario that is complex and frequently overwhelming to access.

Systems that are designed to assist families in need can be confusing. Time away from work to attend to medical and health appointments can cause workplace stress. When paired with the expenses of specialty medical care, financial and emotional distress can surface quickly. The Family Support program at BDSRA in the national office welcomes all questions and concerns from families in the midst of identifying and applying for services. Becky Hetteberg, MSW, LISW-S, Family Support Officer for BDSRA, is available to help with any problems or identify resources and she can be reached by calling 800-448-4570 ext. 12 or emailing [email protected]. One of the most common forms of assistance is financial support through U.S. Social Security Disability benefits. Disability benefits can be used to cover everything from day-to-day expenses to specialized childcare to medical bills.

WHat disaBility Benefit PRogRaMs aRe aVailaBle foR Batten disease? The Social Security Administration operates two separate disability programs. These programs include Social Security Disability Insurance (SSDI) and Supplemental Security Income (SSI).

SSDI benefits are offered to disabled workers and their eligible family members. To qualify for SSDI, applicants must have earned income and paid Social Security taxes consistently throughout their careers. Because children do not earn income or pay taxes, the only way a child can qualify for SSDI is if he or she has an eligible parent. This is referred to as an auxiliary benefit or a dependent benefit. Typically children will have to qualify for SSI benefits rather than SSDI benefits. To learn more about auxiliary benefits link to: http://www.disability-benefits-help.org/glossary/auxiliary-benefits.

SSI benefits do not have any work history or tax-related requirements. Instead, SSI is offered to disabled individuals who earn very little income. To qualify for SSI, applicants must fall within the financial limits set by the SSA. The SSA will evaluate children under the age of 18 based on a portion of their parents’ income. This process is called deeming. To learn more about SSI financial limits and deeming, visit: http://www.socialsecurity.gov/ssi/text-child-ussi.htm


CoMPassionate alloWanCe PRogRaM sPeeds tHe aPPliCation PRoCess foR uRgent Cases Typically, it takes several months for the Social Security Administration to decide the outcome of an initial disability application. In urgent cases, the Compassionate Allowance Program can accelerate applications. Under Compassionate Allowance processing, individuals with inherently disabling conditions can be approved for disability benefits in as little as ten days. The SSA recognizes Batten disease as a Compassionate Allowance listing. To meet the requirements of the Compassionate Allowance listing for Batten disease, you must include specific medical documentation with your child’s application. This should include a record of the child’s diagnosis and should come in the form of the following test results:

Clinical and neurological examination resultsBlood testsUrine testsSkin or tissue samplingEEG resultsResults from electrical studies of the eyesBrain scan results

It is recommended families work closely with the child’s doctors to prepare the SSD application. A physician or their staff will help collect the necessary medical records and can provide a written statement that outlines the child’s condition and limitations.

To view the complete Compassionate Allowance listing for Batten Disease, link to: https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022365.

WHen aPPlying foR soCial seCuRity disaBility Benefits oRganization is Key To apply for Social Security Disability benefits for a child, the parent or guardian must apply in person at a local Social Security office. To speed the process, be sure to have copies of necessary medical documents, as well as required identification and U.S. citizenship paperwork and documentation of household income and finances such as pay stubs and bank statements.

if an aPPliCation is denied, an aPPeal PRoCess is aVailaBle

While it’s not common, an application can be denied. If your child is denied benefits, you have 60 days in which to appeal the SSA’s decision. Because Batten disease is a Compassionate Allowance condition, your child’s appeal will be given priority over the standard appeals that are currently in the Social Security system.

It is recommended that if you do need to appeal a denial of benefits, it may be in your child’s best interests to retain the services of an attorney who specializes in disability law. An attorney can help point out any weak spots in your child’s disability claim, can assist you in gathering the evidence you need to strengthen your child’s disability case, and can use current Social Security Disability laws to help your child achieve a favorable appeal outcome. Statistics have shown that families who hire an attorney are more likely to win an appeal than applicants who try to represent themselves.

For more information regarding Batten disease and Social Security Disability benefits, visit the following page: http://www.disability-benefits-help.org/compassionate-allowances/batten-disease-and-social-security-disability.

Article assistance provided by Molly Clarke, U.S. SSD Office



the BdsRa BooKsHelf

a new section

In this new feature for the Illuminator, Family Support Officer Becky Hetteberg introduces book authors and titles that can be useful for families grappling with many care issues. “Books are just one of the therapeutic tools that can help us change the way we think and feel and ultimately help us learn new ways of coping with life’s hardships,” she notes. “We are including a selection for children as well as adults, so parents can tackle difficult conversations about Batten disease with their children, nieces, nephews, family friends or any others in their support network.” If you know of a good book to recommend for other families, please email Becky at [email protected] with your suggestions.

Children’s Book selection

The Goodbye Boat by Mary Joslin

Saying goodbye to someone you love is always hard. Explaining death and loss to children can be especially challenging, given their lack of understanding with what is happening. “The Goodbye Boat” explores the pain and grief of saying goodbye. It also presents readers with a

message of hope, for people of faith, that sadness will ease and that death is not the end.

adult Book selection

A Cup of Comfort for Parents of Children with Special Needs: Stories That Celebrate the Differences In Our Extraordinary Kids by Colleen Sell

The diagnosis of a child’s special needs can be extremely difficult for parents. Every day, however, these children accomplish small victories and make great strides that improve their own lives-and brighten their parents’ days. This collection brings to life fifty stories of parents who have struggled with a child’s diagnosis only to embrace the differences that make their children that much more special-and loved even more.

Following the success of A Cup of Comfort® for Parents of Children with Autism, this sensitive and joyful collection offers a poignant message of support, hope, and empathy. This touching volume is sure to find a welcome home wherever people are dealing with a challenging diagnosis.

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conversation online!

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Please Join oR ReneW youR BdsRa MeMBeRsHiP foR 2014

Look for your membership mailing soon to join or renew your annual BDSRA membership. Being a members provides access to special services and program specialists, discounts on genetic testing, voting privileges in board elections, and the BDSRA newsletter. Membership is open to all family members, extended family, friends, supporters, and advocates.

Membership may be paid online or by mailing a check or money order to:

BDSRA1175 Dublin RoadColumbus, Ohio 43215

For questions, contact [email protected].

EMILY ANNE SMITH, daughter of Hugh and Pamela Smith,

Chattanooga, TNBorn: 11-10-87 | Died: 12-28-13

Juvenile

CARSON SHELDON HUELIN, son of Lori-Ann Keeping and Sheldon Huelin,

Brantford, Ontario, CanadaBorn: 4-29-04 | Died: 12-24-13

Late Infantile

TORRIE NICOLE HENDERSON, daughter of Edward and Ruth

Henderson and Carol and Brad Bowker, Granite City, IL

Born: 8-17-81 | Died: 12-05-13 Juvenile

KATIE HOGG-LUSK, daughter of Charlene Lusk, Scotland

Born: 9-03-02 | Died: 11-20-13 Infantile

KORRY ELOTA SHARP, daughter of Mark and Georgia Sharp, Vacaville, CABorn: 6-03-93 | Died: 11-17-13 | CLN5

NOAH CORBIN LACY, son of Scott and Aimee Lacy, South Charleston, WV


in loving memory

AIRON HENRY BOLEY, son of Don and Brandy Boley, Davisville, WV


CONNOR EVAN ALLBEE, son of Derek and Christy Allbee, Reno, NV


RYAN MAYNARD, son of Joel and Chris Maynard, Colorado Springs, CO


CHRISTINA MARIE MARCHIANDA, daughter of Carmen and

Ann Marchianda, North Lima, OHBorn: 8-31-64 | Died: 9-24-13 | Kufs

TAYLOR LEE MOHR, son of Nathan and Ashley Mohr and Heather Groth, Ute, IA

Born: 10-01-03 | Died: 9-24-13Late Infantile

CHRISTOPHER ISNARD, son of Alain and Janie Isnard, Chester, NJ


RACHAEL SHARP, daughter of Mark and Georgia Sharp, Vacaville, CABorn: 04-30-96 | Died: 09-01-13

CLN5

JESSIE LYNN BUSHLEY, granddaughter of Mary Bushley, Utica, NY

Born: 08-12-91 | Died: 08-13-13Juvenile

ZACHARY BALOG, son of Susan and Steve Balog, Cranberry Township, PA

Born: 11-02-95 | Died: 08-04-13 Late Infantile

BDSRA takes great care to memorialize those individuals who have passed away

from Batten disease. If a person is omitted from this page, it is because BDSRA was not notified of the death, did not have permission to publish, or did not have

confirmed information.



fouRtH quaRteR donoR gifts(Gifts given August 31, 2013 through December 31, 2013)

The Batten Disease Support and Research Association has been remembered many times in the past four months by families and friends affected by Batten disease. Thank you for your generous contributions. This support for the vital mission of research and services for families is crucial to finding a cure. We are also grateful to those supporters who have participated in events and volunteered their time to advance our efforts for Batten disease research and family services. We also acknowledge in this donor list all the generous contributions made through the 2013 Annual Fund Campaign.

IN HONOR OF:The ALLIO FAMILYJohn West

ALLIO and SHARP FAMILIESVacaville Police Officers Association ANNIE ALLIOCindy Farman

AUDREANNA and ALEXANDRIA ALBAUGHMom and Dad

THOMAS ANDERSONStephanie AndersonKurt and Joyce Moser

KATE BENROTHMom and DadSandra BenrothBritt MenchoferBruce and Phyllis Willer

CHRISTOPHER BENSONJohn Benson

JULIE BERNSStephen and Bonnie Thompson

CAMERON BOLEYMike and Tara Rawson

WILLIAM BRADDOCKBruce Goldfaden

DANIELLE AND HOLLY CARBREYMike and Diane CarbreyKaren FitchDonna GerlockDavid and Barbara PetersonMichael and Norma Thiel

NAOMI CAUGHEYAnonymousNaomi Kathleen Caughey Foundation

BRANDON CHILDERSDonna ScottMichael and Pamela Smith Happy 17th Birthday!

EMILY COLVERTRobert and Judith Tyler

NOAH COUGHLANBernece Pomeroy

SOPHIA GRACE CRAWFORDCynthia Rocha

CLIFFORD DAHLMom and DadBrian and Karen AndersonChatham Presbyterian ChurchDennis and Carolyn DahlRandall and Ellen DahlSusan DahlFriends of the Chatham Library CaféDiane RichertEddie and Beth Rodriguez

KEN DOCKTERMichael and Joan Baroz

CHAD DOVELMom and DadLeroy and Kim BowmanKaren Sheldon

ADIA ELFERTNorth Coast Litho

RYAN FARETMom and DadClare CasaleElna FaretBjorg and Ole GrandeHasbrouk FamilyDennis OlsenJames ThomasDenise WrightJohn and Pamela Yourish

DREW FERRANDINODrew’s Hope

LEAH FITZGERALDAlan and Judith AlexanderDonna FitzgeraldMarilyn GulottaRichard and Clare Meyer

MARGIE FRAZIER and DAVE LIPPERTStephen and Anna Keller

KELSEY FULLERDouglas and Pam FullerAlyson Gioia

KELSEY FULLER and FAMILYSylvia Fuller

ETHAN GAHLBECKGary Nidetz

MACKENZIE GAIRPaul and Sheila Gair

HOLLY GORDONWilliam Hess

CARSON and LEAH HAMMMom and Dad

BRANDON and JEREMY HAWKINSMargine BensonMartha BerkebileSteven FoxDon Pieroni

AUSTIN HEINDaniel and Anne KappKen and Lexine PranschkePaulita Pranschke

RON, LUGINE and AUSTIN HEINRobert and Audrey Fink

JENNA HILLConnie Duggan

JOSH and JENNIFER HOODJessi Sgarlata

EZEKIEL HOLTMom and Dad

NATHAN HOOVERChad and Lori ErnstRon and Barbara Essinger


JESSICA HYNIEJames and Jody AtkinsonTerry and Barbara FitzwaterSharon PerrinLarry and Jacqueline ReichardtMartha Skelly

SARAH INKSWilliam Gellerman and Victoria Thorpe

ALAIN and JANIE ISNARDFred Fell

COURTNEY AND NOAH JOHNSONDennis and Sharon Depoi

BRIDGET KENNICOTTJean HahmHope 4 Bridget

ZACHARY KILLINGERMom

TAYLOR KINGLottie Sutton

JACK and JOAN KISCHDave and Joan Ortland

ERIC LOWDENDavid Williamson

ERIC AND MCKENNA LOWDENMom and DadAlex and Sara LowdenScott and Nancy LowdenSophie LowdenI.W. and Margaret StephensonLila Thome

NANCY LOWDEN and FAMILYWallace and Vivian Capps

NOLAN LEISMom and DadHarry BealRobert and Melissa GollnikMichael and Janean LangDavid and Carol MaulsbyJill Thompson

OLIVIA GRACE LEWISLisa Lewis

EDDIE MAJESKILawrence and Jennifer EarlyStanley Rybicki and Cynthia CurtisWalter Tidwell

JOHN MANGUMMom and DadThomas and Helen Gleason

JONATHAN MCCOLLUMFaye Robinson

WESTLEY MCKINLEYFrank and Jo Webster

JAKE MEDLEYMom and DadChristine BoydRichard FanninMr. and Mrs. HolleyWyatt and Jane McNeillKenneth and Lou Nell MedleySanna RagatzErica Tucker

MICHAEL METCALFLaren and Connie Metcalf

JEFFREY MONTAVONKim HightJeffrey and Lori Simonton

RALPH NAPOLITANODave and Joan Ortland

PAT NEWMAN – on her 80th birthdayCharles and Wanda Leffler

ASHER NIKOLAJEVSMichael AshelySanford BlackAW and Charlene Hargrove

CAROLINE PARKBeverly Kinkade

THE PINDER FAMILYLewis and Mary Winans

CHRISTINE RATZMom and DadMr. and Mrs. Gene EmanuelPhilip and Ann HovisKate OshimaSheri RatzBob and MaryBeth Rossiter

RICK RATZBeverly Boe

BRADY REGEHRAmanda Beeton

HANNA RODGERSMom and DadSonny Rosenthal

SKYLER ROWETerrie Rhoden

KESLEY SHUROSMom and DadFoth CompanyJoyce HotvedtCurtis and Suzanne HudakRobert and Patricia MohrbacherSam and Sarah Fink

MASON SMERDELNicholas and Susan CalvertBernadette DemouraJoseph and Kathleen FlemingNorth Coast LithoJulie TerryMarianne TerryEdward and Katey KowalskiThomas and Judith Uline

KAREN SMITHDavid and Christine Bentley

KRISTIN SMITHAllen and Janet DavisDavid and Kathy HultgrenBill and Diana IltzscheJames and Linda SmithRichard and Janice Steinbeck

SAMANTHA SMITHPak A Sak

JORDAN and ZACHARY ST. GELAISMassachusetts Elks Association

TOM AND MARY STOKESPatricia Emery

MICHELLE AND LAUREN SURREYDavid and Cynthia Franklin

ADAM TAYLORAlbert KearneyMaryon Williams

STEVE and BONNIE THOMPSONBonnie J Thompson

TIFFANY TYNESMom and Dad

COLTON USTRUCKMarianne Murphy


NOAH VANHOUTANNancy BusbeeCliff Wilson

NOAH and LAINE VANHOUTANMom and DadMadilyn AbernathyCarol DunkinNoah’s Hope

NICHOLAS WELLNERKim BuschyJames and Jill Wellner

GENE ZANINTerry Kratzer

IN MEMORY OF:CONNOR ALLBEEMom, Dad and familyAndrew AcunciusJames AlfrodStephenie AllredJoseph BurnsSteve Gerrish and familyDiana HoffmanRichard HunterTom Heidi KinsingerDelia LuskSue LyonsBryan McKennaJane SauerModel Dairy SelagRalph MogensenJanice RomaniniHoward SilverMary StewartConnie TriplettLonnie Williams

CATIE ALLIOCindy Farman

NATHALIE AMATO Mom

KARI ANDERSONMargot AndersonPaul KozarGregory Nelson

AMY JO BACKMom and Dad

BOONE BARRICKLOWMom and DadTheresa Posten

JULIE BECKSFORTMom and Dad

ALICE BENSONJohn Benson

SHERYL BENTERStella Quiason

CELIA BETZMom and DadJames and Opal BetzTim and Jan BetzBill Coulman, DDS, IncChristen CoyleBrian and Joyce DonahueSandy FergusonChristopher and Stacy GagleJason and Stephanie GambleJohn and Sandra GillsDenae GriggsGrandview Dental Care Dr. William ThompsonLynette HalsteadPaul and Stephanie HarrisHilliard Davidson Renaissance ProgramGene KingElizabeth LaichDavid and Lori LangLorobi’s IncDaniel and Amy MandolfoMartin and Jamie MeyersMichael and Elaine MeyersMartin Mitchell Insurance AgencySteven and Elizabeth MorganElaine RankinGary and Karen RawsonMichelle ReamanJoan SchmidtLisa SchmidtSara SheetsPhilip and Carlene StarcherPam SovikSummer TalbertCory and Bridget VaudtMike and Mary WendelGary and Judy Williams

KIMBERLY and COREY BINGHAMMargaret Bingham

LYNN and LESLIE BLAKEThomas and Maryalice BlakeSusan Graveline

DALLIN BLOOMERMom and Dad

JEFFREY MICHAEL BOBBYMichael and Carol BobbyAmy and Michael BoerMom and Dad

AIRON BOLEYMom and DadNorbert and Jacqueline FarnausHelen HandleyAnn MurphyBrittany NobleMike and Tara Rawson

ABBY BORTZRyan Bornbach

ABBY and MARYALICE BORTZDaniel and Karen OConnor

DANIEL BREUERDad

JAMES WESLEY BRYSONDavid and Shelby Chastain

JESSIE and MARY BUSHLEYGale Hill and Alfred Piszcz

MATTHEW CALVERTAlice Canterbury

TREVOR CASTLEBetty Jo EatonGary and Carolyn Parrett

HANNAH CAULFIELDDad and LoriCindy Schaller and Brenda DeSena

JOHN HENRY COOPERJoe and Kathy AllioDenise ViscontiDonald and Georgia Visconti

RYAN COOPERRobert and Glenda Cooper

KARI COURTNEYMom and Dad

MATHEW MARTIN CRIMMINSJames and Kathleen McGuigan

KEN CURRANCarolyn CarnesJudith CurranSouth Shore Urology IncVirginia Franchises Inc

CLAY CUNNINGHAMGreg and Nary CobettoCommunity Foundation of Louisville DepositoryMichael David

ETHAN DAVIESDana AndersonDon BrownNate DolanAmy MurzynWintergreen’s Bar and Grill

MEGAN DEPEWKelly and Phyllis Conner McDonaldGreg and Diane Stacey

CATE DIBBLESalesforce Foundation

LAURIE and TOMMY DOCKTERMichael and Joan BarozHarvey and Vivian Rorro

EMILY DUGGERSteven and Amy Summers

PETER EDWARDSMom and DadChristine Grob

ERIK and JON EVENSONThomas and Bonnie Swanson

AMANDA FITZGERALDDonna FitzgeraldMarilyn GulottaValerie JohnsonRichard and Clare Meyer

MACKENZIE ROSE FOSTERJade Morrison

KATE ELIZABETH FRANKMom and Dad

MELISSA FROIOMom and Dad

CHRIS GAINES – on his birthdayMom

MARIE GEORGESheree O’ByrneLaurie Tennian

SARA GEDEONTomas GedeonMargaret Hall

JR GODFREYMom and Dad

KERRICK and CHRISMOND GOLLMom

LEVI RANDALL GRANTMom

TRACY LYNN GUERTNERRonald and Barbara Ouellette

COURTNEY GUNTHERMelton and Marilyn Frederick

MARLIN DAVID HADLEYLaurel United Methodist ChurchGloria Smith

NATHAN and NOAH HARDYJudith Okeefe

MEGAN HARRIMANTony and Andrea Hernandez

MEGAN HARRIMAN and PAULA HARRIMAN RUGGLESEdward and Grace Harriman

STEPHEN HATCHETTSusie Wilee

TYLER and RYAN HAXTONTim and Marsha Bagby

PHILLIP and EDITH HOOVERDavid and Carolyn McPherson

DANNY HOUGHTBYSusan Bradley

JEFF HOWARDMom and Dad

CARSON HUELINBOSC Mechanical Dept (Jason Dunn)

TERENCE HULMEMuriel Bartle

CHRISTOPHER ISNARDMom and DadKaren AdelmanRonald ArmstrongMarcia AsdalBank of America Matching Gift ProgramRene and Linda BaerStephen and Carole BradyFrancis CuccioWilliam Cucco and Carol CastellanoKevin, Sue, Matthew and Scott DavisJohn and Debbie DiazGene and Edie DockterMegan Donnelly

Marion DuBowClaudia EichingerFred FellDaniel ForanMr. and Mrs. HaagKaren HahnCheryl HollandClaude IsnardTom Liu and Noriko OkamotoSid and Sandy JacobsonGregory and Joan MaillardJacques and Isabelle MartineauJoseph MetelskiGregory and Jeanne MetzlerChuck, Tini and Jeff MontavonJay and Kristin NobleAlan PearlKatherine PerryJoan SalamanchukSubComBruce Taterka

ELLIE JACOBSMaureen MayfieldCharles and Tini Montavon

JAY JENSENMom

JAMIE JERSHADonald and Margaret BlankGlenn JerchaMark and Linda JerchaAnthony and Loretta TomichBrian and Nancy Reese

ELISABETH JOHNSONJudith HaynesLloyd and Leal Portis

LORENA JOHNSTONDavid and Linda Birckbichler

HAYLEE JOYCEDonald and Monica Joyce

ASHLEY KIEFEREliot and Jean ElliottWayne and Trina Kiefer

JULIE KLEEMom and DadHoward Schub

LEVI KNOWLESJohn and Linda Niemei

NOAH LACYMom and DadKimberly BrownFelix Carpenter


Frederick Allen and Carolyn CarteDora BaldwinChristopher and Kelie BlanchardFlo BranhamJonathan and Susannah CarpenterPatricia CastoDwayne and Lou CyrusSheila DaleMelissa DayMelinda DiCarloJames and Debra FlaniganFreedom IndustriesMark and Monica HatfieldJohn and Tammy HuddlestonKendra MarkerJanet Holmes and Kimberly McClungWallace and Mary McCormickWayne and Cheryl MorganCharles and Carolyn ParrishDennis and Phyllis PerkinsBob and Bunnie PerrineScott and Martha PhillipsLea Anne PinneyPoca Valley BankPSIMED Corrections LLCWilliam and Pamela RameyDoug and Nancy ReedGregory and Mary RobinsonRuth ShortAaron and Jessica SopSherry and Amber SlaterThe Stark and Fenton FamiliesBlitz and Mac TurnerAllen and Janie WestMary Ellen WiltonEllen and Louanna WorkmanBillie Young and Kelly ParsonsThe Young, Biddle and Brookshire Families

ISABELLE LEVISMichele Levis

JUSTIN LAVENNeil and Leslie Nelson

JULIA ANN LEFFLER Mom and DadMatt and Anne FortierLaura RatchfordReba Worsley

LUELLA LEISStanley and Carol Clements

AARON LEWISAlma Nell Lewis

MATTHEW AND RICK LOWTHERCurtis and Deborah Lowther

BLAKE MASHBURNSheila Tillman (his caregiver)

RYAN MAYNARDMom and DadAlexandria Lion’s ClubBarbara AllanAllison BobzinCarl and Audrey BrooksGeorge and Barbara BrustEllen BushPeggy ByrdDenah BurnhamElizabeth CohenSteven and Elizabeth CutterThomas DeBoaltSuzanne DeemerJamie DitzianGreer FawleyRaymond FeldWhitney FergusonRenee FuccellaPat GoschGeorgeann GrayHampshire Womens ClubShannon HallCarl HawkinsGeorge and Lois KaiserMelissa KraehenbuehlChad KuffenkamChris and Margaret KuffenkamBrett and Jan LaceyMark and Melinda LambertGloria LesherWalter and Judy LeuchtLewis-Palmer High SchoolNancy LynnRory MaynardSue, Jay, Jake, Colin and Katelyn McConvilleWilliam and Cynthia MilaniTodd and Maryellen MitchellLois NeufeldKenneth and Norma PattonCorey and Cheri PeckCynthia PeckFredrick and Linda RackowAdrienne RamsayMeredith RipleyS.L. Hinson AssociatesPaul SchubertDavid SchmitzNancy Steffy and Amy FrenzJeanne SiegmannDonna SpigaroloTiffany SpigaroloJoel and Christine StirlingMark and Sally StockwellLinda StrohmeyerPatricia SwalwellAnna SwensonRebecca Thomas

Cailyn VarkasEmily VernonKathy WakeleyWilliam and Ruth WakeleyAllison WalkerLouise WilliamsBill and Joyce WrightEric and Sarah Zellmer

ROBBIE and STEPHANIE MAXIMMary Ann Asher

LEAH MCFARLANESandra Phillips and Kristin CoonTim and Kris Coon

LEAH MCFARLANE and RICHARD PHILLIPSSandra Phillips

MATTHEW MCGEEConnie James

KENNETH MEAGHERKenneth and Janice Martinek

JOEY and BILLY MILANIErika Blas and Susan MilaniKevin and Margaret KuhnJames LeeCasimir and Dorothy MikrutSteven and Kathy Van Spankeren

ZOYA MIROSAVLJEVICMartin Katz

KAREN NEWTONMom

ZACHARY NOORDHOEKGreta NoordhoekThomas Noordhoek

EVELYN NOWICKISarah PelhamSusan Robles

MEGHAN O’NEILLRonald and Sandra Nelson

DANIEL ORTLANDJack and Joan KischRalph NapolitanoRobert and Donna NapolitanoJohn and Margaret NicolichKirk and Anabela Rossi

MICHAEL PANKRATZMom and Dad

BARBARA PATTERSONSusan Converse


JUSTIN PECKBill and Jean BartonCraig and Anneliese KemperThe McGregor/Whobrey Family

CASEY PETRIMom

LUANNE PFALLERJean Connolly and Laura Weiland

SARA PFALLERCasimer and Patricia DuravaGeralyn HamesBenedict and Luanne PfallerJean Walsh

DAVID PFOHLMom and DadMary Sassano

LAURA POHRENJohn and Karen Newell

MARCY, MINDY and MICHAEL PINDERRandy AnselBernie and Janet BehrenshausenRobert and Susan LehrPat PughPauline Ramsey

HOWARD PITTSFaye Reynolds

BRITTANY PRYCEMom and Dad

STEFANI PUSKARInge Puskar

MARK and JAMES RICKMANThomas and Rebecca LukeSamuel and Theresa Robinson

VICTORIA ROGERSMom

AMBER, SARAH, and SANDRA ROYALTYMom and DadMark and Joan Koenig

CHARLIE SCANLONMom and DadBill HaddadPaul White

THOMAS SCHULTZJohn and Mary Turner

NATEY SCHWARTZEFrancis and Teresa Schwartze

KORRY SHARPSheryl ApplebyMaureen ColombaraTimothy and Ginger DunneKeith and Alice JohnsonLucy JohnsonLarry and Bonnie LangdonKenneth and Sandra MaggyBradley and Tanya MillsSusan Odneal

KORRY and RACHAEL SHARPJan Gerber, DDSEugene and Keiko McCallDennis and Sondra ParnellNarcotics AnonymousAldean SharpJerry and Diane SpringerStockton Women’s Republican Club Federated

RACHAEL SHARPJoe and Kathy AllioRita AndrinoSheryl and M ApplebyDonald and Lyle BaldwinRobert BootheDale and Shirley BrownLee and Jean BrownLarry and Julaine CleavengerMaureen ColombaraTimothy and Ginger DunneJulian and Misty GallegosRex GaryMike and Ruth HardinLucy JohnsonCindy KelleyLarry and Bonnie LangdonAnn LewisKaren MetzBradley and Tanya MillsNaomi MartinezDavid and Toni McCallumSylvia MurphySusan OdnealRose SchmidRobert and B.J. ShepherdBarbara TripodoSusan WhiteBill and Allie Zoldoske

MONICA and AMY SHEERMANMom and Dad

MICHELLE SHERIDANSusan BradleyJudith Taylor

LINDA SIVULKALamira JaeksEMILY SMITHKathy RatzCarolyn RiceLaura SmithFredrick Sterchi

SARAH SPROGERHalvard Sproger

HOLLY RENEE STEWARTMom and Dad

JESSICA and MATTHEW STOCKWELLMom and Dad

BROXTON TAYLORAidan FeirsteinFrank and Ann Gennario

EMILY THOMPSONMom and DadWasyl and Olga KarpenkoBonnie ThompsonDaivd and Jessica ThompsonMartha ThompsonSara Thompson

GRANT and RICK TISZAIDeb Tiszai Phillips

BRADLEY TYLERAnonymousRobert and Judith Tyler

SULLY USTRUCKMarianne Murphy

BRITT and JORDAN WATSONMom and DadKathy Ketner

VADA WATSONJames Yocum and Charlotte Jibben

GRACE VIRGINIA WHITELinda Cash

JUSTIN WHOBREYAnna Charland

CAROLYN WILHELMMeem BryerDennis KellyThomas and Mary Shanks

CASSIE WOLTERDad


CASSIE, LINDSAY and PATTY WOLTERRonald and Barbara Houts

LINDSAY WOLTERDad

CHELSEY WORSTERAnonymousDaniel YanakLes and Debbie Ham

MADDIE ZELLMERMom and DadOrpha and Jeff CoxTim and Natalie GibbsAmelia MannWilliam and Patricia Shell

PROGRAMS, SERVICES & RESEARCH:Jesse AkersAMECOAnonymousBruce and Diane ArkleyBDSRA Alabama Chapter and FriendsBDSRA Metro NY/NJ Chapter and FriendsBDSRA NorCal Chapter and FriendsBDSRA Tennessee Chapter and FriendsJames and Nada BeirneCarroll and Mary BennettSimon and Stefany BergsonRobert and Audrey BiesterLouis Blumberg and Ellen HarrisonThomas and Cecily BowRoger BowersBrookdale Senior Living IncGerald BrytowskiJoseph and Rita BurnsCal Neva 7-ELEVEN Franchise Owners AssociationAnn CaldwellCapital One Card Lab Connect ProgramConstance CappChevron HumankindEric and Joan ClarkJames CloyesBrittany CorreaTony and Kristen DepoiAnthony DiMaggioMark and Pam DiMariaJudith EtchelecuThomas and Gail FennimoreCecelia FieldsMary Lou GallagherMichael and Colleen GehantSarah GeoghanThe Giving Campaign Allstate

Julia Nelle GrandleDaniel HodesJennifer HallRev. Marvin and Dorace HardingTerry HarrisonChris and Wendy HawkinsDavid and Mary HelmsRobert and Karen HouleEarl and Janet InksJim Hurst and Joan LaddStephanie Johnson-BergThomas KeenanRobert and Janet KehrliMichael KennySharon KoehlerBrad and Donna LindsayKeith LowdenLundbeck IncRaymond and Elizabeth ManiaciNaomi MartinezThomas and Edna McIntoshMike’s Beer BucketMichael MillerMorgan StanleyCarson and Carolyn NeifertTom and Marla NelsonJared NielsenRoy and Linda PalmerLloyd and Leal PortisGary and Cynthia PozoloJames and Hildegard PranschkeLaura ReckerCharles RobertsGloria RowanThomas ScheviakLinda SeidelSempra Employee Giving NetworkWilliamd ScheererIsha ShresthaJohn and Jean SmithCarolyn SpillsonSt. Mary’s Catholic Club IncMichelle StopperanWilliam StonerCarol ThomasFaye ThompsonScott and Cynthia TinerviaTix 4 Cause LLCRoy TruelsonAndrew and Celia ValrosaJean VolnaPhilip and Diane WhitsonBarbara WuebbelsFlorence YodisElizabeth YoungsYourCause LLC

Donations totaling approximately $28,900 from the following events were made to BDSRA:

Mike’s Beer Bucket Golf Outing Battling Batten Disease 5K Memory of Celia BetzBenefit for Kate Honor of Kate BenrothNeighborhood Garage Sale Honor of Michele and Lauren SurreyAlabama Chapter BDSRA Golf Tournament Memory of Chris Gaines Please direct any questions or concerns regarding this list to Tracy Kirby at [email protected] or (800) 448-4570, ext. 13. Thank you for your continued support.


Documents

Volume 25, Number 1 | January, 2014 · PPT1 in cultured cells from infantile Batten patients, preventing the waxy build-up but without the toxic effects of hydroxylamine. The study