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Down’s Syndrome Research Foundation e-news June 2008 ©

Vol. 4/ Issue 1

Nutrition Study: an update The Great British Duck Race 2008 Fundraising News The Road Ahead

Daniel Kidd

Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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Welcome

Down’s Syndrome Research Foundation Registered Charity : 1058548 www.dsrf.co.uk Email: dsrf@dsrf.co.uk

Summer is finally here. The sun brings with it long days and plenty of fundraising events. The research study on diet and nutrition is in full swing. We have over 35 families participating, but we need more. See Page 4 for an update. Once again, the DSRF is delighted to be taking part in the 2008 Great British Duck Race! Adopt a duck for as little as £5 and join us for a fun day on the Thames. The winning duck gets £10,000 and the next 30 ducks also win prizes. Page 6 has all the details. On the fundraising front, we have several fundraising events coming up, organised by our members. Along with your cheques, remember to send us pictures and a write-up for our newsletter! Comments and suggestions for our newsletter, ideas for fundraising events and your personal stories are welcome!

Trustees Peter Elliott Sylvia Elliott Dr. Pete Elliott Dr. Elizabeth Elliott Christopher Wills Dr. Robert Lister Margaret McLaughlin Gillian Barrett Sandie Nuttall IN THIS

EDITION

The DSRF Team Cover Photo: Daniel Kidd

Chryselle says…

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Nutrition Study: an update

Good-bye is never easy and this one is especially difficult. It is three years since I’ve been with the DSRF and it is time to move on to sunnier shores - I am relocating to India.

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The Great British Duck Race 2008

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Fundraising News and Thank You’s

Working with the DSRF has been a tremendous learning experience. I started with helping in the distribution of the ‘Bright Beginning’ books for new parents. In the last three years, we have sent out close to 25,000 copies of the book and three editions later, we still get requests every day.

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The Road Ahead by Nicola Rood

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Membership News

I gradually got interested in fundraising and with my background in writing, working on grant applications seemed a natural progression. That, and interacting with the parents who contact the DSRF, has been one of the biggest highlights of my work here. I have enjoyed staying in touch with the parents on our members list. I met some parents (and the children) at our 2006 conference. Others, I am glad to say, have become friends, even though some I’ve never met in person. I hope that friendship continues over the continents. I have been privileged to share your lives and that of your children. Keep those photos coming – it means a lot to us at the office. I’d like to thank the DSRF trustees for their continued belief in me and for letting me take new initiatives for the charity. Developing a culture of fundraising is crucial to the survival of an organisation and I hope that all of you who have supported the DSRF in the past by organising or participating in various events will continue to do so in the future. I’d like to thank the Elliott’s. Peter & Sylvia are special people. They should be enjoying their retirement, but like most parents, they put Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

their children first. Their dedication to medical research and improving the health of children with Down’s syndrome is extraordinary. I wish them health, success and every happiness. To you, our members, I’d like to say ‘Get involved’. The path ahead would be a little easier if more of you got involved with research, fundraising or just being active members. If you don’t yet support us financially, please think about doing so – even £5 a month makes a big difference. For the price of a few coffees, you can support new initiatives that will help thousands of children. For those of you on Facebook, if you’d like to stay in touch, I’m on the DSRF group. Otherwise, email is good, too. Thank you once again for being such great people to work with. If you’re coming to India, let me know! Best wishes, Chryselle D’Silva Dias Website : www.dsrf.co.uk

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Ellen Shultz, receiving a trophy for being ‘Inspirational Student of the Year’ in Kumon Maths

Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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Nutrition in Children with Down’s Syndrome (NICDS) Research Project: an update from Peter Elliott Results are starting to come in for this project and there is evidence that some children are getting very high levels of vitamins. Water soluble vitamins are excreted when they get too high but others will accumulate in the body. So it is important to get the evidence for each child from these blood tests and we can advise parents when this is happening. This is an unexpected outcome from the study but important when quite a few parents are using these supplements. And many of these children are very young. Every parent has been asked to prepare a food diary for 7 days. This information will also provide an indication of the dietary intake of vitamins and minerals and of good fats and bad fats. This kind of study has never been done for our children so it will become a reference for other researchers in future years. We have siblings in our study so hopefully, we will have a way to understand the influence of the extra genes in Trisomy 21. If there is no influence we would know this as well. Experts tend to assume any problem is due to these extra genes and sometimes this is true because we can see that the oxidative stress is high and there is evidence of inflammation and an impaired immune system. But we really need to understand why these things are happening and understand what effect they have on the biochemistry and the metabolism. We can learn a lot from the blood and for the moment our focus will be on the lipids profiles which we know will be most at risk

when there is elevated oxidative stress and inflammation. I know parents may feel this is all too technical and they just want to live day to day, and hope for the best. But the truth is; “The best” they are hoping for, will only come about when we all work together and get this research done. No one has the answers, and no one will ever find out the answers unless we do the research. So our target is a better understanding of the lipids profiles because the brain is made from 60% lipids and the brain is most at risk when there is oxidative stress and inflammation. There is already promising research that indicates DHA can act as an antioxidant, it can help produce a chemical that can repair the brain cells and it is a material essential for the construction and development of a more complex neuronal network. And DHA can pass the blood brain barrier and it can be stored in the blood cells ready to be used where ever it is needed in the body. We have been giving our David very high levels of fish oil for years and he gets fish several times a week. So his lipids profile is very different and now we need to know if this is a good thing or perhaps too much of a good thing. The only way to find out is with brain scans and an EEG is planned as the next step for our research project. We have experts ready to help us. But did you know a brain scanner will cost us £1000 per hour? We may be able to get two subjects scanned in an hour but that’s the

Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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minimum charge and it’s NOT on the NHS. So when we bug you and ask for your financial support for research it’s not something we can avoid doing. Without the financial support we come to a grinding halt with research. The work we have underway becomes much MORE expensive when we don’t have the volunteers coming forward. Work that can be done in one year, ends up taking two years and it’s twice as expensive. Plus our kids don’t get the benefits either. So you have a big influence on research - nothing happens without your help. Foundation Jerome Lejeune is very interested in the work we are doing. They will be visiting us next month and we hope to get them involved as a collaborating partner in this research. It will be easier to increase the number of families in the research project. We need about 200 families and we have about 35.

So this is just a start, we are making good progress. There is incredibly important research underway and it’s very easy to take part in the research. So please help us to improve the lives of all our children. David with his high levels of DHA is now being viewed with interest to see what outrageous thing he will say next. Recently his mom said: “Now, tomorrow the grass has to be cut, the garden rubbish collected and put into bags and then put into the van and taken to the dump. --- So what will you be doing?” David thought for a while, and then he said “Watching.” Peter Elliott

Be safe in the sun. Like Emma Evans, always have a pair of sunglasses handy! Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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When 31 August 2008

Where River Thames, near Hampton Court, Surrey.

Aim To send 250,000 rubber ducks down a 1km stretch of the River Thames near Hampton Court Palace, and in doing so set a new world record and raise millions for charity.

How Adopt a rubber duck today for just £5. Three pounds of this goes to your charity. Each duck is individually numbered and will take part in the 1km race on the Thames. The duck that crosses the finish line first wins £10,000. The next thirty ducks will also win prizes.

Adopt a Duck for the Down's Syndrome Research Foundation (DSRF) Help us raise funds to improve the health of children and adults with Down’s syndrome. Adopt a duck and join us in this exciting and fun race! To adopt a duck: visit http://www.thegreatbritishduckrace.co.uk/adopt.php and select the DSRF as the charity of your choice Tell all your friends about the race and get them to adopt Quackers today!

Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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Addenbrookes Hospital Agnes & Dickson Mak Angela Ward Anne Beggs Bianca Bacinschi Brian Murray & RBS Car Quest Rentals Carlo Galazzi Carol Woodley Dover Grammar School for Girls Fiona Grant G Howcroft & Mary Tittle Gill Barrett Graham Merton Ian & Erika Wheeler Ipos MORI Janet Smyth Jenny & Steve Davies Jenny Harper Jill Kimber Laura Glassborow Marty Wilson Matthew Norris Michelle Clark Mr & Mrs Lightfoot Ms B Mahon Nick A Penny Forsyth Steven King Studio 51 Suzanne & Simon McCloud Tammy Hutchinson The Odunston Family Tony Burns Verity Harrison William Nuttall

Simon McCloud & Friends completed the 3 Peaks Challenge in aid of the DSRF. Well done!

Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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The Road Ahead By Nicola Rood My name is Nicola, aged 32, I am married to Julius aged 28 and we have 2 beautiful daughters, Gemma aged 6 and Cara aged 2 who has Down’s Syndrome. We found out about Cara’s suspected DS shortly after she was born. They ran a few genetic tests to confirm this, which took just under 3 weeks before we got the results. They confirmed Translocation Down’s. Genetic defect is usually transferred from parent to child. My husband and I went for blood tests to determine which one of us was the carrier. To our amazement, neither of us have any abnormalities in our blood!

us on another journey to find the right teat. We even tried a bottle they use to feed children that have a cleft palette, to no avail. So we had to continue feeding her through a Nasogastric tube (NG Tube) and she would be discharged from hospital the next day. When I arrived to collect her, she was on CPAP (continuous positive airway pressure)! I bet you can only imagine how I felt! The disappointment and the sadness that she was sick again. She had developed bilateral pneumonia and would not be coming home. Cara regressed so badly that they had to transfer her onto a ventilator. They could not get her oxygen saturation up to acceptable levels, so they transferred her onto an oscillator. Alas, this on its own was also not successful, so as a last resort, they put her on Nitrous Oxide whilst still on the oscillator.

Cara weighing a measly 2.19kg At the tender age of 4 weeks, Cara was admitted into hospital for severe dehydration, as a result of projectile vomiting and diarrhoea. You cannot believe what havoc something like a tummy upset can reap! It took her 3 weeks in ICU to get over this setback. They discovered that she had an inability to break down protein, so the search was on for a suitable formula. We never realised how many different formulas were out there! We eventually found an elemental feed that contained no milk, no gluten, etc. She tolerated that really well and it was also pleasing to her palate, (whoever said newborns can’t taste anything, hmmm, I think they may well be wrong!). She was almost set to come home, now all she had to do was learn to suck properly, which took

Cara on the oscillator with NOX In the two days that followed, Cara started making a dramatic recovery. It was really heartening to finally see a change for the better! The paediatrician was suspicious as to why the sudden onslaught of repeated illness took place, and conducted several more blood tests. He discovered she had an immune deficiency, which to this day is not diagnosed. We realised how much our lives had changed in those 12 weeks since her birth. We suspected that we would be virtually living at the hospital, which I am sad to say, turned into reality for the

Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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next 4 months. She picked up some funny bugs that almost always ended up causing a chest infection. I managed to get hold of the head of Immunology at Tygerberg Hospital in Cape Town and put her in touch with Cara’s paediatrician. She advised that he should put her onto regular IVig (Intravenous Immunoglobulin) infusions, called Polygam, which aids the immune system, which he did. Cara had open-heart surgery to repair her ASD (Atrial Septal Defect) and VSD (Ventricular Septal Defect) at 7 months of age. The operation was a huge success and made such a difference in Cara’s life. The constant chest infections (aggravated by the high pressures in her lungs due to the heart defects, which caused mixing of the good and bad blood going back to her lungs) were a thing of the past! She got colour back and started thriving at a pace! Two weeks after her heart operation, we decided to insert a Gastrostomy Tube (inserted directly in the stomach through the abdomen) as she was still not feeding well, and the NG tube was problematic as she kept on pulling it out. Four months later, she was eating solids exceptionally well, and using a large hole nipple, she was able to drink her milk within acceptable time limits.

My girl was well on the road to a healthier life! I am pleased to say that the road ahead is looking pretty good!

Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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Membership Information and Gift Aid

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Gift Aid declaration If you have made a financial contribution towards our work in the recent past, you may have received a ‘Gift Aid declaration in the post. If you have not yet returned the form to us, please do so soon! Your declaration form will help us claim back Gift Aid worth 28% of your donation – that’s 28 pence for every pound that you donate, at no extra cost to you. Please help us get this extra funding at no cost to you. If you need further information, please contact us. Gift Aid declaration forms are available from our office or download one from our website www.dsrf.co.uk/Fundraising/giftaid.html

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Moved home / changed address / changed banks? If you have recently changed your address or moved banks, please send us your new details. We have several instances of active donors but no contact addresses as they have moved home and failed to notify us. If you are a donor, please help us stay in touch. If you haven’t received a postal mailing from us in the last 12 months, email us your latest address: dsrf@dsrf.co.uk

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Wanted: pictures! We’re in the process of updating our website, brochures and flyers and would love more pictures of your family. Examples of pictures could be fundraising events, children, support groups or other parent meetings. Email us the pictures: dsrf@dsrf.co.uk or post them to us. Photographs sent to us are done so with the understanding that they may be used in our newsletter, website and other material.

To stop receiving this E-news, send us an email with ‘Unsubscribe’ in the Subject line. Down's Syndrome Research Foundation Registered Charity 1058548 18 Daws Hill Lane, High Wycombe, HP11 1PW Tel: 01494 521826 Email: dsrf@dsrf.co.uk

Website : www.dsrf.co.uk

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DSRF June Enews