Many thousands of families affected by undiagnosed genetic conditions are not accessing support.
Approximately 6,000 children are born in the UK each year with a syndrome without a name – a genetic condition so rare that it is often impossible to diagnose. Life for the families of these children is isolating, they often think they are the only family in this situation and don’t know that support is available. We want to change this.
On Friday 28 April, Undiagnosed Children’s Day, we’re asking everyone to become detectives and help us find families who need our support.
SWAN UK member, Charlotte Bull says: ‘My twins have no diagnosis – no ‘syndrome’ or ‘disease’ to attribute to them. After their first year in hospital I was sure my twins would bounce back and catch up. I was in denial. I think it was also to protect myself from my ultimate fear – the future. In many ways this self-preservation has been quite lonely.
The one time I tried going to a twins toddler club I felt a total outsider and an object of pity. I didn’t engage with any other groups either as we didn’t have a diagnosis and I felt a bit like a fraud. We didn’t fit in anywhere until we found SWAN UK. It is invaluable to have families with a wealth of experience to call upon for advice and support but perhaps, more importantly, it has been empowering to feel that we aren’t the only ones affected in this way. It isn’t just us.’
SWAN UK (syndromes without a name) is the only dedicated support network available for families affected by undiagnosed genetic conditions in the UK. Our Big Ambition is that each of these families will have the support they need, when they need it. But many of the families who could benefit from our support still don’t know we exist. We’ve set ourselves a target to find them and double our membership in 2017 and we need your help.
SWAN UK National Coordinator, Lauren Roberts, says: ‘Raising a child with an undiagnosed genetic condition comes with unique challenges. Without a diagnosis families don’t know what the future holds for their child – will they walk? Will they talk? What is their life expectancy? How will it affect future children? We want families to know that they are not alone.’
Now in its fifth year, Undiagnosed Children’s Day is a nationwide event to raise awareness of children with undiagnosed genetic conditions, also known as syndromes without a name. SWAN UK supports families in hospital and at home offering 24/7 access to support and information and runs free family events to bring families together.
For further information, case studies or to arrange an exclusive interview with a family affected by an undiagnosed genetic condition, please contact Miriam Ingram: [email protected] or 020 7831 0883.
Notes for editors:
SWAN UK (syndromes without a name) is run by the charity Genetic Alliance UK, registered charity nos. 1114195 and SC039299. Genetic Alliance UK, Level 3, Barclay House, 37 Queen Square, London, WC1N 3BH. 020 7831 0883.