Families with children who have undiagnosed genetic conditions causing severe and complex medical needs are to be supported by a grant from the Big Lottery Fund.
Genetic Alliance UK receives £312,634 for its SWAN UK (syndromes without a name) support network providing emotional and practical support through activities that will bring families together to share experiences, advice and reduce isolation. Many children with undiagnosed genetic conditions can have severe physical and learning disabilities and having no definitive diagnosis can make families feel at a loss over who to turn to for advice.
In a survey carried out this year 75% of SWAN UK families said their experience of raising a child with an undiagnosed genetic condition is isolating. In addition, research by Rare Disease UK found 73% of respondents who did not have a diagnosis felt it had been a barrier to accessing treatment.
The funding over three years will enable the SWAN UK support network to deliver and maintain more than 30 Facebook support groups which provide access to peer support 24 hours a day. Around 40 family meet-up events will be organised each year and the six local networks providing on-the-ground support in England will be increased to 14. The project will also deliver tailored information to families about treatment and support available to them, in guides, regular newsletters and online bulletins. The group also hopes to increase understanding and awareness of undiagnosed conditions amongst healthcare professionals.
Case study: Dylan Myers, Ongar, Essex.
Dylan will be celebrating his sixth birthday on Saturday 20 August. Although he is approaching six, Dylan has a rare undiagnosed growth disorder which means he is stuck in the mind and body of a 9-12 month-old baby. He has a life-limiting condition and can stop breathing at any time – day or night. This has been known to happen up to 10 times in one day. Dylan has situs inversus, meaning his organs are reversed. He has arthritis, inflammatory bowel disease, suffers seizures and has a curved spine. As a result of all these problems, Dylan is on constant pain relief including morphine.
His mum Danielle, 38, is a SWAN UK member. She said: “There is so much wrong with him that it has to be linked but there has been no diagnosis. When they look at his DNA it looks fine. No-one can get to the bottom of it.
“I am a full time carer for Dylan as you cannot take your eyes off him for even a second in fear that he will stop breathing. We cannot do the same things as other families as Dylan is at risk of infections and germs. In spite of all these things Dylan is the happiest, friendliest, sociable, loving child who everyone falls instantly in love with. We don’t know exactly how long we have Dylan for but we cherish every single second with our miracle.
“That Dylan is approaching his sixth birthday is my reason for coping. We never thought this day would come. At five months old we were told Dylan may not survive the general anaesthetic needed to put his Hickman Line in. But our little fighter did, and survived several other procedures too. He's one tough little cookie. Life was lonely and I felt so isolated in a world where everybody else's babies were blooming and then I found SWAN UK.
“SWAN UK is a wonderful community filled with people that are in a very similar daily situation as me. Although not one of us are exactly the same we all know what it feels like to have a child who is poorly, undiagnosed and unlabelled. Having these virtual friends who sympathise, empathise and understand you is precious and this is what keeps a lot of people fighting for their child during a daily battle.”
Alastair Kent OBE, Director of Genetic Alliance UK said: “Our big ambition at SWAN UK is that all families who have a child affected by an undiagnosed genetic condition, also known as a syndrome without a name, get the support they need, when they need it. We know there are so many families out there who still need our support so this essential funding is vital to us being able to continue to reach out to families that need our help.
“We have had a brilliant first five years of SWAN UK and this grant will allow us to consolidate our progress so far and continue to work to support families over the next three years.
“Without a diagnosis families don’t have the answers to many straightforward questions, such as ‘will my child walk?’, ‘will they talk,’ ‘how long are they likely to live?’ As a result they live every day not knowing what the future holds. They can feel extremely isolated but with this grant we can continue to make sure that families know they aren’t alone.”
Lyn Cole, Big Lottery Fund England grant making director, said:
“This funding will improve the lives of thousands of children by enabling their families to get the help and information that’s right for them. It will also give people access to a network of families sharing similar experiences, so they can support one another and build on their strengths together.”
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