The vast majority (75%) of parents report that their experience of raising a child with an undiagnosed genetic condition is ‘isolating’, according to a survey.
About 6,000 children are born every year with a syndrome without a name – a genetic condition so rare doctors are unable to diagnose its cause.
The survey by charity SWAN UK (syndromes without a name) of its members also found that the words ‘frustrated’ and ‘lonely’ best describe parents’ experience of parenting a child with an undiagnosed genetic condition.
On Undiagnosed Children’s Day – an annual nationwide event to raise awareness of children with undiagnosed genetic conditions, also known as syndromes without a name – on April 29, SWAN UK is launching its Big Ambition: to ensure that every one of these families has the support they need, when they need it, regardless of whether they are diagnosed or not.
Many people don’t realise that it’s possible for disabled children and young people to be undiagnosed, or even how long they can be undiagnosed for. Some children and young people may never get a diagnosis because the genetic cause can’t be found. As a result, being undiagnosed is not always a temporary stage. Families can face a lifetime of not knowing and struggling to access the information, support and services that they need for their children. Without a diagnosis, children and young people’s needs are not taken seriously and families have no idea if their future children will be affected.
Without a diagnosis, families have no idea what the future will hold for their children – if they will walk, talk or even how long they are likely to live for.
Alison Bloomer, a parent of an undiagnosed child, says: “When you have an undiagnosed child, they can go through years of medical testing. This can take an emotional toll on your family on top of the day-to-day demands of looking after a child with complex additional needs. Having an undiagnosed child has meant that we have had to fight harder to get access to social services support because there is an underlying assumption that your child will continue developing and eventually catch up with their peers, when in reality the gap gets greater year on year.
“Undiagnosed Children's Day allows parents to lift the lid on some of the difficulties that come from having a child with an undiagnosed genetic condition. Hopefully this year we can spread more awareness of syndromes without a name so that ‘not quite fitting into a box’ does not equal fragmented and uncoordinated care.”
SWAN UK’s national coordinator, Lauren Roberts, added: “Life with an undiagnosed child is tough. It can be almost impossible to access support. Despite a system theoretically based on need, the reality is that a lack of diagnosis often acts as a barrier to effective, appropriate and coordinated care.”