Transcript
Page 1: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

Volume 12 Issue 3 (56) Summer 2012

ECTODERMAL DYSPLASIA SOCIETY Unit 1 Maida Vale Business Centre, Leckhampton, Cheltenham, Glos. GL53 7ER England.

Tel: +44 (0) 1242 261332 Mobile: + 44 (0) 7805 775 703 Registered Charity No. 1089135

www.ectodermaldysplasia.org Email: [email protected] [email protected]

E D Society Christmas Party

We are pleased to announce the EDS Christmas Party will be held on

Saturday, 8th December 2012

12.00pm -5.00pm

At the fully air-conditioned

Thistle Hotel, Cheltenham

Children’s Entertainment including pantomime show, stories, music and a bubble machine.

Buffet and Father Christmas

Tickets - Adult £12.50, Children with E D & siblings free, other children £6.25

Family and friends welcome

(Please complete & return the enclosed registration form) Financial assistance is available towards travel and

accommodation on application The venue has ample parking and is close to the M5 motorway, about 1.5

miles from Cheltenham coach and rail stations and close to a range of hotels.

Page 2: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

2

Medical Advisory Board Members

Prof. Angus Clarke - Clinical Genetics (MAB Chairman)

Prof. John Hobkirk - Prosthetic Dentistry (Implants)

Mr. Stephen Kaye - Ophthalmology

Prof. John McGrath - Genetics, Molecular Dermatology

Prof. June Nunn - Paediatric Dental Surgery

Dr. Helen Stewart - Clinical Genetics (IP)

Mr. Colin Willoughby - Ophthalmology

Mr. Martin Bailey - ENT

Prof. Michael Tipton - Human Applied Physiology

Prof. Nichola Rumsey - Psychologist

Dr. S. Aylett - Paediatric Neurologist

Mr Paul King - Restorative Dentistry (incl. Implants)

Prof. John Harper - Paediatric Dermatology

Mr. Michael Kuo - Consultant Otolaryngologist

Dr. Fiona Browne Dermatologist

Dr. L. Albery - Speech / Language Therapist

Trustees

Paul Collacott - Chairman

Steve Preston - Treasurer

Diana Perry - Secretary

Mandy White - Air-Conditioning / School Liaison

Melanie Davis

Stephen Ayland

Simon Lees-Jones

David Wyatt

Mark Macnair

Liz Beckmann

Sharon Cooper

Staff

Sue Beard - Accounts / Website

Julie Cox - Administrator

Fergus Gordon - Scotland

New Trustee

We are very pleased to welcome Sharon Cooper to the Board of Trustees. Sharon is married to Colin and has a daughter who has ED. She will bring a wealth of skills to the Board as she has a long background in publishing, significant skills in the internet, good business analysis, financial and project management skills, together with being a Mum of a child with ED.

Membership Forms and Symptoms Questionnaire

Please send back your 2012 Membership form ASAP, also if you have not completed a

Symptoms Questionnaire it would help us if you could do this by either downloading one from the website or requesting one from the office.

edlines

Page 3: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

3

edlines

Sweat for Fred I've been doing Zumba in our local community centre for 8 months now and I love it! I wanted to raise awareness and pennies for the Society so thought a Zumba party would be a very fun way to do this!

My Zumba instructor agreed to give up her one day off (for free) to help. I sold tickets for £10 each which included 2 & 1/2 hours Zumba, buffet-which my dad supplied-raffle ticket and a ticket only prize

draw, to win a nights dinner, bed & breakfast stay at a hotel in St. Ives.

I emailed, called and begged local businesses to donate whatever they could to the raffle and had an amazing response with most prizes worth well over £50!!

There were 30 of us on the day doing the Zumba and almost the same amount came to support us, we had a brilliant, if somewhat tiring, day.

Fred very much enjoyed watching us all shaking our stuff and thought his Daddy looked rather "cool" dressed in neon pink head & wrist bands and leg warmers!!!

We have only been living in our village for 6 months but everyone really helped and supported this event and showed a true community spirit. I can't thank everyone enough and it's a real pleasure to say we raised £1000.00 for the Society!

Thank you again to the Society for all their continued support, Fred is a very lucky little boy.

With love, Sarah, Jon, Fred (3) & Alex (1) Jones

Daniel Sanchez (aged 11)

In April I planted lots of seeds - sunflower, viola, nasturtium, poppy, forget-me-not, pea, lettuce, courgette, tomato, runner bean, French bean, rocket, broccoli, radish, beet root, cauliflower, sprout, mange tout, carrot, spring onion and even more!

It was very cold that day but it was worth it. Soon we had lots of little seedlings ready to be sold.

At the end of May, we printed leaflets and delivered them in our neighbourhood. My friends Aimee and Rachel helped me to decorate posters for the ED Society and we set up a stall in our front garden. It was a lovely sunny day and lots of neighbours and friends came to buy plants.

We also had a raffle and sold tickets to win prizes. We had a lot of fun and raised £200 for the ED Society. Some people asked what Ectodermal Dysplasia was and I told them about me. Lots of people have asked when we are doing our next sale!

Daniel you’re a real star - thank you so much for doing this for the Society

School Health Care Plan The ED Society have now created a standard School Health Care Plan to help

parents obtain the correct care for their children in schools. The document covers many symptoms of the dif-ferent ED syndromes and can be amended to suit individual children.

For a copy please contact Diana in the office [email protected] or download it from the member’s section of the website.

Page 4: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

4

The Chudleigh Kitchen is born

For many years we have used catering as a way of raising money for charity. The first time we did it was when Mark was a student at Cambridge, and we made pancakes on a barbeque set up in Kings Parade to raise money for the “Rag”. More recently we have regularly done fund-raising BBQs, and over the past few years have held a number of “themed meals” in aid of various charities. In these, we invite up to 16 people to a three course meal, including wine, at £20 a head. The latest of these earlier this year, an “Italian Evening” raised £175 for the ED Society.

Around Easter, the doorbell rang one evening, and on the doorstep were a couple who we vaguely knew. They announced that they were getting married in July, and wanted the profits from the wedding reception to go to a worthy cause, rather than the bank balance of a commercial caterer. They knew we did charitable catering from time to time – would we do their wedding? Gulping somewhat, we accepted the commission to do a buffet meal for 110 people in a the local Community Hall (otherwise known as the primary school hall!) at £15 per head. We enlisted the help of a number of young people from the local church “We Love Chudleigh” group who agreed to help with serving the canapés and clearing tables etc. All went very smoothly, the couple and guests appeared very happy with their meal, and we made a profit of £900 for the ED Society.

In the lead up to this event, we decided we needed a more formal framework for our catering activities and began to call ourselves “The Chudleigh Kitchen”. One of our daughter’s bridesmaids is a graphic designer who designed a logo for us, we then had some business cards and polo shirts made with the logo. So with the wedding behind us, and our new logo and purple shirts, we are eager for more business!

Mark and Vicky Macnair

edlines

Family Fund The Family Fund is a registered charity covering the whole of the UK and mainly funded by the national governments of England, Northern Ireland, Scotland and Wales.

Formed in 1973 by the UK Government to give practical help to families with severely disabled children under the age of 16. For over 20 years the Family Fund operated under

the wing of the Joseph Rowntree Foundation but in 1996 became an independent charity.

Today they are the largest independent grant-giving organisation helping families across the UK who are raising a disabled child or young person with additional complex needs or children and young people with a serious illness. In 2011/12 the Family Fund provided support to some 59,000 families who live on the lowest of incomes while caring for disabled or seriously ill children. They remain most grateful to the four UK governments for their funding, which provides a lifeline for many families.

They help families lead ordinary lives by providing grants for things that families tell them they need and that make life easier for the disabled child, young person and their family. They can help with essential items such as washing machines, fridges and clothing but can also consider grants for sensory toys, computers and much needed family breaks together.

Applications for a Family Fund grant can be made by the parent or carer of the disabled child or young person. Young people aged 16 and 17 can make an application in their own right. Applications should be made per family.

The website is - http://www.familyfund.org.uk

Don’t forget - the summer months are great times to hold

fundraising events

Page 5: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

5

edlines

Fundraising – Our Grateful Thanks

The fundraising events which have been organised and the many donations that have been coming in over the past 3 months amount to just over a staggering £8751.

The following families; Gallagher, Fisher, Cunningham, Hawkey, Pennington, Shortman, Macnair, Hobkirk, Beeson and Willats sent donations—thank you.

Thanks to Stephen Ayland (Trustee) and Ian Perry (Diana’s husband) for doing the ‘Walk the Wall’ and raising £4116.50 for the E D Society and the James Hopkins Trust.

Mel Davis with the help of Liz Beckmann (Trustees) organised a quiz night and raised an amazing £851. Thank you for your continuing support.

Mark (Trustee) and Vicky Macnair for your continuing support and fundraising through your stall and fantastic catering. Mark and Vicky recently raised £100 by holding a BBQ for a Christening, £120 from garden parties, £200 from a coffee morning, £20 for catering at a party, a staggering £900 for catering for a wedding, the list is endless - they have raised over £3500 for the Society so far.

Daniel Sanchez (aged 11) and friends Aimee & Rachel held a stall selling seedlings Daniel had grown himself and a raffle raising £200 for us. Well done Daniel, Aimee and Rachel.

Zoe Smart and Craig McDonald raised £815 by organising a Street Dance. In June Diana went to Craig’s work place in Corby for a presentation of the cheque and to meet the many supporters. Huge thanks to you both for your continued fundraising.

Sarah Jones and her partner Jon raised an amazing £1000 from organising a ‘Sweat for Fred’ Zumba day. Huge thanks to you both - it sounded great fun.

Sheldon Coppard (13) raised a fantastic £51.15 from a cake sale she held at Heathfield Community College for Form 8L - you’re a star - thank you so much for thinking of the Society again.

Louise Macnair sent in a further £200.88 from her local fundraisers, The Dolphin Indoor Bowls Club in Poole. Well done to Bob and the Club! ☺ and thank you for supporting us this past year.

Fergus Gordon’s Mother had a sponsored Church sleep in and raised a staggering £770 - thank you so much Mrs. Gordon. Fergus continues to fundraise by having money boxes in various locations close to his home in Scotland and brings tremendous awareness to many people in Scotland—thank you Fergus for your continued support.

North Yorkshire BCC Gillian Squires, Grandmother of Bailey Squires, very kindly nominated the ED Society to the North Yorkshire BCC and at their AGM it was decided that for the next 12 months all their fundraising efforts will go to the Ectodermal Dysplasia Society.

This is wonderful news—thank you so much Gill, family and friends.

Page 6: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

6

FROM A PARALYMPIAN’S PERSPECTIVE My name is Melanie, and I was born with EEC, a form of Ectodermal Dysplasia. This meant that I have a couple of fingers missing on each hand and some toes missing. In 1992 (Barcelona) and 1996 (Atlanta) I represented Great Britain in the Paralympics, in table tennis. I have also played in World Championships and was Class 10 ladies European Champion in 1994. Class 10 is the minimal disability class, and related to people with the non playing arm being affected. So I was playing against a lot of one armed people.

I thought I would give a behind the scenes view of what happens in the Paralympics that TV viewers do not get to see, warts and all - highs and the lows.

The first major hurdle is getting a GB kit that fits you. The kit is supplied by the British Paralympic Association and we get it in advance of the games. We had to fill out forms with a number of our bodily dimensions so that they could supply us with the right size kit. After we tried it on there ended up being a lot of swapping as some people’s were too big and others too small. I soon realised that, despite giving our waist size, the trousers etc were a man’s cut rather than women’s - so not wide enough round the hips, and miles too small. So for Atlanta in 1996 I got wise to this one and gave hip measurements rather than the required waist measurements.

Anyway with kit sorted and fitting, now time to get to the host country. The GB team fly from the various airports around the UK, rather than all together. Once in the host country, the next question is “when will I see my suitcase again?”. We were ferried on coaches to the Olympic village; our suitcases were bought on separately much later (the next day if you were lucky).

The athletes’ village is normally a few miles from the Olympic stadium. It houses the thousands of athletes and their coaches from all the competing countries. In Barcelona it really was like a village, streets of newly developed blocks of flats near the beach that were then going to be sold after the games, the hub being a shopping mall also just built especially. In Atlanta it was the local university student accommodation campus. First thing before you can even get into the village is the dreaded accreditation. This can be really slow like in Barcelona where it took a couple of hours, but much quicker in Atlanta. You have your photo taken, ID checked and then issued with a security pass that you wear round your neck with your picture, competitor number and a code eg athlete, coach, etc., on it. From now on this bit of plastic is worth it’s weight in gold, if you lose it you can’t get back into the village or sporting venues, the eating sites in the village or onto the transport. This pass is checked everywhere you go.

Meal times can be an experience, in Barcelona the food was excellent and well organised. The restaurant was below the main concourse of the mall and would later be turned into the car park. There are a number of places to queue up for the food, of all different types and dietary requirements. I soon sussed that it was best to go to the vegetarian counter as the food was better, even though I am not vegetarian. In Barcelona the restaurant opened at 7 in the morning and didn’t close until 11 at night. All the food is free and there were freezers full of ice cream and lollies that you could just take. In Atlanta it was a different story! The food tents only opened for a couple of hours around meal times, so on some days there were 2 hour waits to get your food.

You arrive at the village about 10 days before the opening ceremony. The next 10 days are used for last minute training. Each country has a set training time to use the table tennis tables in the venue itself. Now comes the opening ceremony. This for me is one of the highlights of the games and takes all day for the athletes and coaches. In actual fact a lot of competitors who are competing the next day tend to miss this out as it can be so tiring. Late morning, you are taken on many coaches from the transport bay in the village to a venue outside the stadium in time for that evening’s big event. We all have our official smart walking out kit which is used for this occasion only. Then you wait, and wait and wait. The countries are seated in alphabetical order. In Atlanta we were in the next door baseball stadium. In Barcelona all the teams circled the stadium outside. Despite the wait it is all very exciting and there is a party atmosphere. There are loads of TV crews coming

Waiting for the Closing Ceremony to start in Barcelona

edlines

Page 7: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

7

round, the BBC were there filming with Helen Rollason. Eventually when it is time, the teams all file into the stadium. As you get nearer and nearer to the tunnels into the centre of the stadium you can hear the crowds roaring, then there is that moment when you just see all the crowds as you enter the arena. There is then the march around the track, with the music being drowned out by all the clapping and cheering. We were then shown to our places on the middle of the athletics field. When the team for the host nation comes in last, the roar of the home crowd is amazing. At the end of the ceremony it is a scramble to get out of the stadium first before all the other thousands of competitors, physios and coaches to get on the 1st buses back to the village.

Each country is assigned a different part of the village, where the team will have its accommodation plus offices as it’s head quarters. Here British press releases are displayed and general organisation of team GB done. Team GB doesn’t just consist of competitors, there are the officials from the British Paralympic Association, coaches for each of the sports, team physio’s and then each sport may bring their own physio. There are also British doctors and nurses to provide a medical service for the whole team. There are also laundry facilities. The only time you meet the other competitors from other countries in the village is at meal times, on the transport or in the village entertainment venues. In Barcelona there was 10 pin bowling, various music bars (soft drinks only!!), entertainment put on and a Pizza Hut. In Atlanta, not so good; just the communal food tents. At least the GB team had its own privately hired lodge which had comfy chairs and sofas, books and a TV for the team. In Barcelona we even had Prince Edward come out to our part of the village and chat to everyone there very unofficially just standing on the pavement outside the accommodation blocks. You have to be fit just to live in the village - let alone for the sports. The village is so large that it can be a good 15 minute walk to get to the restaurant or transport bays. Then there is a lot of standing around waiting for meals (in Atlanta) and transport to and from your sporting venue. You have to wait for the designated buses for your sporting venue, and if you missed one it was a very long wait.

Eventually it is time to go home. The whole village empties on the day after the closing ceremony. The closing ceremony itself is more like a giant party; everyone swaps kit with other countries.

I went to 2 Paralympics and each was completely different. In Barcelona the village facilities were excellent and accommodation really nice. In Atlanta, a different story. The accommodation was so bad that it was even reported on by the BBC in their reports. Rooms were dirty when we got there, no bedding for some people for a couple of days and meal times appalling waits. The bedrooms were so small that if you had 2 people sharing who both used wheel chairs then one had to wait for the other to leave the room before they could get out of bed. The Paralympics were organised by a different company in Atlanta from the main Olympics and the company who organised the main Olympics took everything with them (even the medal flags), leaving the Atlanta Paralympic organising committee just a few days to resource everything. They had to borrow the flags from the Australians who were hosting the next Olympics.

Overall going to a Paralympics is an excellent opportunity and one that I would not have missed for the world. I did not win any medals, but came 4th in my class in Atlanta. I lost the semi-final after being well ahead in the final game of the match - then lost the bronze medal play off! It also opened up other opportunities like doing press and TV interviews. I was also invited to a reception at number 10 with John Major, where a number of massive sports personalities were also invited. I managed to accidentally tread on Alan Shearer’s foot (who

was one of England’s top players at the time) - but that’s another story!

GB Team Lodge- Atlanta A small part of the Olympic village in Atlanta

edlines

Atlanta 1996 Opening Ceremony entering the

stadium with team GB

Page 8: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

8

Great Midlands Fun Run

On the 10th June 2012, I completed the Great Midlands Fun Run in Sutton Coldfield raising approx £200+ for The Ectodermal Dysplasia Society.

It was 8.5 miles, that I managed in a time of 2hrs 10mins & 59secs which I was delighted with as I am overweight & undertrained. I couldn't train at all as I had damaged my knees on the treadmill & thought I would have to pull out at the last minute through injury. Of course, a couple of holidays, stag do's, and weddings didn't help with the training regime at all!!!

Fortunately, my ED symptoms are mild and my Litre bottle of water helped get me around. The wet sponge stations were particularly welcome for a quick cool down.

This was the 10th annual GMFR with a record attendance of 7000 participants. As all the major charities were represented, I was delighted to be wearing my "No Sweat" ED Society shirt - maybe next year (2nd June 2013) we could get a few more ED Society supporters to take part - www.greatmidlandsfunrun.com).

Gary Dunleavy

edlines

Hadrian’s Wall ( I came, I saw, I blistered) Ian Perry (Diana’s husband)

Stephen Ayland (Trustee) and I duly set off travelling by train to Newcastle on 16th May, and on the 17th we were driven to the West Coast where we set off to find our way back to Newcastle. The total was meant to be 84 miles over 6 days, so we should have been walking an average of 14 miles per day and 15 on the longest. We were fortunate to have with us a GPS based device which told us how far we walked each day. The mileages involved turned out to be a minimum of 18 miles per day, and 19 miles on the longest day. Accordingly we walked approximately 100 miles, nearly 25% more than we were expecting, or for which we had trained.

The walk itself was generally not too hard with some gentle upward gradients back down to Walls End in Newcastle. For anyone considering a similar walk my advice would be don’t enter into it lightly without very careful consideration and a long training period.

The walk was the hardest thing I have ever done physically. Whilst we both suffered from the odd blister and tired legs, the overwhelming problem was pain from sore feet which didn’t go away, accumulated day by day, and con-stantly reminded one that there was another days walking to follow when there would be even more pain.

There were some good moments, notably the people that we met along the way, but also some fabulous views over some very wild countryside which we do not get to in the southern part of England. It wasn’t quite the leisurely walking holiday we were expecting, but we did manage to raise just over

£4,000 for the ED Society and The James Hopkins Trust. A huge thank you to all who sponsored us.

Page 9: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

9

edlines

Wigs from the NHS—YES!

At the age of four Lucy was diagnosed with Ectodermal Dysplasia which we had never heard of before and her dermatologist explained what it was. On the way home after the diagnosis I was still confused and shocked as I didn't know what it actually was, so I searched the internet and found more information about how hair is affected in ED as Lucy’s hair hadn’t grown longer than an inch! I was very concerned as I realised that my little girl would want to have long hair - all little girls love long hair - bobbles, etc.

When Lucy started school she so wanted to be like other little girls and asked for a wig. With the help of Ectodermal Dysplasia Society Lucy was funded her first wig - she was delighted, as was Mum and Dad - happy tears all around !!!

Unfortunately human hair wigs don't have a lengthy life span so when it was time to get a replacement we made an appointment with the Dermatologist. He is a lovely man but told us Lucy could have a synthetic wig, but it's very difficult to get funding for human hair wigs as it is seen as "cosmetic"!!! Don't think so!! So we had to fund her next wig as synthetic wigs are so unnatural and hot to wear. Lucy has come to depend on her wig and is extremely anxious, frustrated and upset if she can't have her wig to wear to school.

The NHS criteria for a natural hair wig is that you have to have a scalp skin condition which prevents you from wearing synthetic wigs, as synthetic wigs are hot and scratchy to wear and ED causes overheating and sensitive skin, I decided to launch into a mission!

We were given six monthly appointments with the Dermatologist, but I went back earlier as I really was on a mission and there was NO way I was going to back down on this!! So every appointment was the same.. “Hi how's Lucy?” I would explain that she is fine but I still think the NHS should be funding a natural hair wig for her. At one appointment I was told that it would be passed on to "NHS Funding Manager" who would look at Lucy's case. I was then informed that they couldn't help with natural hair wigs, but she would be entitled to an NHS synthetic wig. I don't think so! I had many receptionists telling me, no, the idea was crazy, call back, anything to try and get rid of me! I had had enough - I called the Dermatologist’s receptionist and told her I wanted to take it higher than the funding manager. I was calm, direct and assertive. I then had a call a week later saying they wanted me to write a letter! After 4 years they wanted a letter?!?!? OK, I wrote a very long letter including every detail possible which I found very draining and emotional! I explained the NHS fund people with methadone - they chose to have that drug... they give anti obesity drugs at the cost of thousands of pounds, incentives for stopping smoking - they chose to light that cigarette!!! My daughter didn't make the choice to have Ectodermal Dysplasia - genetics chose it for her.

I was then asked to go into hospital for another meeting where the Dermatologist said he would put Lucy forward for an Individual Funding Request (IFR) review under my local PCT, this involved our family doctor, more letters, more phone calls, more examples etc., etc. Whilst all this was incredibly draining there was no way I was backing down. Lucy's panel review was on the 15th June. On the 20th June I had a letter telling me that she is entitled to 2 HUMAN hair wigs every year until she is 16 years old!!! Result!!!! Absolute result - thrilled was not the word for it after 4 nearly 5 years my personal battle was at last over.

The secret to all of this .... DON'T BACK DOWN.... Be prepared to be told no, but don't let that dishearten you. Carry on and on and on and on.... I thought I was going mad at times repeating myself over and over again to the point where I thought my Dermatologist dreaded my appointments. He's a lovely man and knew I was doing the right thing for my daughter. Be armed with your facts, with examples of what the NHS funds are for - relate that to what you actually want funding for... Keep strong ... Keep calm and there should be success.

If any Mum or Dad of a child who has ED and is currently fighting the NHS for a natural hair wig or would like to, please feel free to contact me via the ED Society office and I will try to help.... You can do it !!!

Page 10: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

10

edlines

R.A.P.I.D. Project Update Reproduced from the Genetic Alliance UK Autumn 2011 Newsletter

with their kind permission

RAPID (reliable accurate non-invasive prenatal diagnosis) is an NIHR funded project that has been running since the end of 2009. Currently, couples who know they are at risk of having a child affected by a genetic condition can opt to take a diagnostic test such as an amniocentesis or CVS during pregnancy, to collect a sample of the baby’s genetic material. These invasive tests carry a small but significant risk of miscarriage (up to 1%) and can only be performed after 11 weeks of pregnancy. Recently, we have found out that from 4 weeks of pregnancy the baby's DNA circulates in the mother's blood. Non-Invasive Prenatal Diagnosis (NIPD) will allow us to use a normal blood sample taken from the mother's arm to determine whether the baby has a particular genetic condition. Because it is a simple blood test, there is no risk of miscarriage and testing will be possible earlier in pregnancy.

Currently, we are able to use NIPD to identify the sex of the baby and the test can be done from 7 weeks of pregnancy. This new test is particularly useful for women who are carriers or X-linked conditions (conditions which only affect boys) as it reduced the need to consider invasive testing for about 50% of pregnancies i.e. those which are identified as female. At Genetic Alliance UK, we have been interviewing women who are carriers of x-linked conditions such as Haemophilia and Duchenne muscular dystrophy, who have used this new test during pregnancy, to identify their views on this new technology.

So far, our findings have been very interesting. Womens’ views and experiences of NIPD have been overwhelmingly positive with words including “brilliant”, “exciting” and “incredibly lucky” being used to summarise their experience. Safety was found to be a key value of NIPD, with most women acknowledging that unlike invasive testing, the procedure posed no risk to the mother or baby. Additionally, there were no feelings of guilt associated with the test as there is no risk of miscarriage with a blood test. The test also had the benefit of being “easy”, “quick” and “simple” to conduct.

Knowing the sex of the baby early in pregnancy was also valuable for a number of reasons. For those women with male pregnancies, they could prepare themselves either for going ahead with invasive testing, or for the possibility of having a child affected by the condition for which they were a carrier. Knowing the sex early also gave women a sense of control over their pregnancy early on which was found to be very important to them, and the information enabled them to make decisions about what their next steps would be. For those women with female pregnancies, they could relax and enjoy their pregnancy early on, and their pregnancy went from being ‘medicalised’ or ‘different to most people’s’ to feeling more like a ‘normal’ pregnancy. It was particularly valuable having this information within the first trimester (before 12 weeks) as parents could then tell family and friends about their pregnancy after 12 weeks which is when most other people disclose their pregnancies.

Most women and their partners had already made decisions prior to receiving the NIPD test results as to what they would do if the result was male. There were however a small number of people who had not made a decision about what they would do next, and wanted to find out the sex of the baby before deciding what to do. The NIPD test was useful for this group as it helped them to make a step-by-step approach to making a decision, informed at each stage of the process.

Concerning the possible disadvantages of NIPD, some people were worried that the test might be used for social sexing purposes and there was a strong feeling that it would be unethical to use this test in such a way. However, in the UK NIPD is only used for clinical reasons and this is tightly regulated by the NHS. Therefore it is highly unlikely that NIPD would ever be used in this country for this reason.

In conclusion, participants’ views about using NIPD were overwhelmingly positive with many more advantages than disadvantages being identified. A number of practical and psychological benefits of a test that is early in pregnancy, easy to conduct, safe and highly accurate were identified. This information is useful for both healthcare practitioners as well as policy makers in ensuring NIPD is provided alongside appropriate counselling and support. Until diagnosis using NIPD is available, using the test to identify the sex of the baby is a good interim measure which has a number of notable advantages over traditional methods.

Page 11: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

11

I would like to introduce myself to you. My name is Mohammed Abdel-Rahman Ali, from Cairo Egypt. I feel so fortunate to have been born on a winter day in November. When I was six months old my mother started to suspect all was not well with me. My body was always hot and dry. My mother went to seek the advice of many doctors. Medical opinion given was that I suffered from fever, as my body temperature was constantly hot. Much medication was administered for fever to no avail. My body was constantly hot. My mother noticed more symptoms as it became obvious that I did not perspire with these extremely high ‘fevers’. Finally my mother found her way to a hospital which explores genetics. Further testing was carried out on me and all were surprised to find I suffer from ED. This is a rare condition and had not as far as was known been seen in Egypt previously. This was to be the beginning of my family’s journey with ED. Little was known of the condition when I was diagnosed. No medication was offered. The only treatment known was to avoid the sun and keep the patient in a cool climate. My family was advised that all that could be done was to keep me in water to keep my body temperature down. My grandmother prepared herself to care for me and facilitate a life for me. I consider her my ideal mother, devoting her life to me. She never left me alone as other family members, including my mother, had no option but to do. She was beside me encouraging me to go on when I hated me life and wished for death. My mother could not cope and depended on her mother-in-law to care for me. When my body was overheating, my grandmother would advise me to fetch a dish full of cold water to place my feet in. Even the touch of cotton bedding was uncomfortable and hot and I was unable to sleep. I would sprinkle water on my bed to cool the linen. When sleep still evaded me because of the heat, my grandmother would carry a fan to me or on occasions carry me to the top of the house at midnight to enable me to cool my hot body, finally enabling me to sleep. I could not wear any clothing in hot weather, as my body would be extremely overheated. At the age of seven my face revealed not a child but a person of seventy. I was isolation and felt unloved, afraid to speak lest I was made fun of. At the age of ten my first denture was made and I hated it. My younger sister would taunt me if we quarreled. She would call me “Y' Mohammed Denture”, and I would become angry and hurt, take the denture from my mouth and throw it from the window, smashing it. My high school years were very difficult for me. Going to school and studying with this condition was a huge challenge. We lived in an overcrowded house in a lower working class area with a low standard of living. It was depressing. Compounding the situation was the extreme high temperature and discomfort that this brought. To overcome the discomfort and try to cool my hot body, I would wet my underclothes before going to school to try to relieve the discomfort.

My self-esteem suffered greatly as people stared at me, made fun of me and called me an old man. I did my best to overcome the cruelty and face the difficulties. Adversity gave me strength to progress in my study and achieve a university placement to follow my dreams. The sense of pride was profound when I achieved my high school certificate.

My mere existence had been a challenge, but to achieve beyond that showed I had triumphed against Ectodermal Dysplasia, it had not defeated me and I was achieving my dreams. This was a huge turning point in my life and as long as I breathe, I will follow my dreams. I have now joined the American University in Cairo. The NFED gave me a chance to find and improve myself. I pray to God to measure up to the love and encouragement I have found in the NFED family. I remember their sentence “You can do anything you set your mind to”. I have set my mind to overcome adversity and achieve my dreams with that statement as my banner.

edlines

The weather in Egypt is very hot and dry. In Cairo the temperature can reached to 100:105F

Page 12: E D Society Christmas Party - Ectodermal Dysplasia  · PDF filemusic and a bubble machine. ... Symptoms Questionnaire it would ... The Dolphin Indoor Bowls Club in Poole

12

Ectodermal Dysplasia International Registry

Join Now and Take a Chance to Win an iPad2! The Registry is a resource by which individuals & families affected by Ectodermal Dysplasias and researchers working on approved Ectodermal Dysplasias research projects can be connected. The Registry will also help to characterize the Ectodermal Dysplasias. We encourage you to complete a profile in the Ectodermal Dysplasias International Registry for every person in your family who is affected by Ectodermal Dysplasias.

What is a Registry? A Registry is a central, online database that identifies and registers patients with any form of Ectodermal Dysplasia, collects and stores their information, and make this information available to investigators interested in studying the disorder. It includes personal and clinical information. The Registry facilitates research by all investigators who need patient populations that are well characterized by accepted criteria. Once established, a Registry is a research resource that can support many diverse types of investigation and clinical trials performed by other investigators. It provides critical structure and uniformity to research, and it enables investigators to pursue promising research directions. By registering information with the Ectodermal Dysplasias International Registry, you are in no way committing yourself to participate in any research project.

Vision, Goal and Objectives The vision is to establish an international Registry that will ultimately serve as a repository of clinical information from people affected by Ectodermal Dysplasias, both the more common and the rarer disorders, to achieve the facilitating of communication between affected individuals, clinicians involved in their treatment and scientists who strive to advance the research on Ectodermal Dysplasias. The objectives are to

characterize and describe the Ectodermal Dysplasias population assist the development of recommendations and standards of care facilitate in the planning of clinical trials by locating potential research participants quickly and efficiently.

Who Coordinates the Registry? The NFED is proud to establish and maintain the Registry with partial support from Edimer Pharmaceuticals. The international Ectodermal Dysplasia groups are also participating.

Who Should Participate? We need every person affected by any kind of Ectodermal Dysplasia in every country to participate in the Registry. The NFED is working with the other patient support groups for Ectodermal Dysplasia throughout the world so their members can participate as well. The success of this project requires all of our participation and support in order to reach all affected individuals who might benefit from any treatment.

The NFED is committed and obligated to ensure the privacy of all individuals who participate in the Registry. The United States has extremely stringent laws in place to protect the privacy of identifiable health information for all individuals. The Web-based software program that NFED will be using for the Patient Registry, Innolyst, is compliant with The Health Insurance Portability and Accountability Act of 1996 (HIPAA).

Researchers who are interested in studying Ectodermal Dysplasias can request de-identified information which is information that does not contain any names or personal identifiers and can be given to approved researchers without having to contact Registry families. Identifiable information includes information that can identify you and will never be released to researchers. Researchers may also request contact with families to obtain specific information or to request participation in a research study or clinical trial. These researchers must have institutional review board approval from their institution and be approved by a Scientific Review Board. After approval, you will be contacted by the NFED Registry Program Director or Coordinator with the information. You can decide if you want to contact the researcher for more information and choose to participate in the clinical trials.

edlines


Recommended