…before I had a child with an undiagnosed genetic condition.
My son Daniel is 7, he can’t walk, he can’t talk and he relies on me, his dad, his brother and everyone else involved in his life to meet all of his daily care needs this includes feeding and toileting.
In the last 7 years he has undergone many genetic tests for a variety of conditions. Muscular Dystrophy, Fragile X and Angelman Syndrome are just a few of conditions that have been suggested to us. But to date geneticists have been unable to pinpoint the exact cause of his disabilities.
To help raise awareness of Undiagnosed Children’s Day in the UK which is celebrated on 29th April 2016 I got to thinking about what I knew or more accurately didn’t know about Undiagnosed Genetic Conditions before Daniel was born.
Really! I didn’t have a clue that there were children (and adults) with very severe disabilities and complex health conditions that did not have a diagnosis for their condition.
So when Daniel was 11 months we were told that he had Global Developmental Delay, Hypermobility and Hypotonia. It was a while before we understood that these labels were his clinical diagnosis used to describe his difficulties but they didn’t explain WHY he had the difficulties in the first place.
It is thought that about half (50%) of children with learning disabilities and in approximately 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties.
In the world of undiagnosed genetic conditions, SWAN stands for syndromes without a name. Families of children with undiagnosed genetic conditions affectionately refer to their children as swans and often wear clothes or scarves with a swan print, wear swan jewellery or even have swan tattoos to raise awareness of syndromes without a name. So the next time you see someone wearing a swan print it might not be because they love swans.
A group of parents, siblings and carers spread all over the world united by the fact that their child didn’t have a diagnosis for their disability who supported and helped each other. In the UK this support group is managed by SWAN UK which is an initiative of the charity Genetic Alliance. Children with undiagnosed conditions are on a massive spectrum of physical, learning and medical conditions yet we pull together to listen to each other, to share our experiences, to give virtual (and real) hugs, to give words of advice and encouragement.
Graduate Swans are children who have received a diagnosis. With the advancements in genetic testing through projects such as Deciphering Developmental Disorders and 100,000 genomes, more and more children are receiving a diagnosis. This means that for some families the wait to get a diagnosis can be less than a year – during that year the Undiagnosed Community through SWAN UK is there to provide support and can continue to provide support even after a diagnosis.
It is important to remember that many families will wait years for a diagnosis and some families may never receive a diagnosis.
I thought ‘we’ knew a lot about the human body. I was wrong. It turns out we know very little. We each have between 20-25,000 genes but we’re still not sure what each of these genes do. Everyday geneticists are seeing changes in genes that have never been seen before. This means they wouldn’t be part of the usual diagnostic testing processes. Sometimes tests show up a change that is not responsible for the condition, sometimes there are so many changes that it can be hard to pick out the one causing the problem. In Daniel’s case, he matched almost all the symptoms of Angelman Syndrome yet the genetic testing returned negative – so this was a red herring for his geneticist. Sometimes a change is found that may account for certain elements of the child’s condition but not others so this may suggest that there is another gene change that hasn’t been identified yet.
Sometimes what appears to be a diagnosis can just lead to even more unanswered questions.
So we’re seven years in to our undiagnosed journey with Daniel, I’ve got to grips with terms like microarray, gene mutation and karyotype. I’ve googled more syndromes than I care to mention and our geneticist greets us like a family member. I hope that I can now support families just starting their undiagnosed journey with gentle words of encouragement and support while continuing to raise awareness of the fact that undiagnosed condition exist.
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