Undiagnosed Children Day Friday 29th April - To raise money for SWAN UK

Friday 29^th April 2022 is Undiagnosed Children’s Day. You wouldn’t necessarily think that in 2022 there is the need for such a day but the huge medical advancements of the 20^th and 21^st centuries have not yet been able to identify why some children are born with a syndrome without a name. Approximately 6000 children are born in the UK with a genetic condition so rare that it is often impossible to diagnose. Riley is a swan.

He was born at 33 weeks by emergency caesarean section, saving his life and mine, and spent the first 8 weeks of his life in NICU at The Countess of Chester Hospital. It became very clear to us, early in his development, that something wasn’t right. He was missing key milestones by significant periods of time: he was nearly 6 months old before he smiled, for example. Initially, we were told that he would ‘catch up’ but, when he was 2, and struggling to sit up independently and still not crawling or walking, doctors decided to investigate further. He has undergone a number of blood tests, MRI scans, lumbar punctures etc. to rule out different explanations but, so far, we have no answers. Our blood has been tested and genetic sequencing conducted but the genome carrying Riley’s syndrome has not yet been identified.

The only explanation we do have for Riley’s condition is Global Developmental Delay. This doesn’t, however, explain his low muscle tone, his inability to sweat, his choking or swallowing difficulties and his high levels of fatigue. Riley used to have a t-shirt that said on it ‘Labels are for clothes’. I do believe that and would never want for him to have a label that puts him in a box and limits his potential. However, without a label, there is no clear pathway for help and support, doctors don’t know what to suggest or some don’t even take us seriously, we can’t plan and know what his prognosis is for the long term. It can be isolating and frustrating when we want Riley to flourish and achieve whatever he can in his life.

Undiagnosed Children’s Day is designed to raise awareness of children and families like ours, while also raising money to support families (many of whom have children with far more complex needs than Riley) and fund further medical research by the Genetic Alliance. SWAN UK have given us much needed access to other families, medical professionals, support networks that take our fears, concerns, frustrations and share them with us.

Everyone says Riley is always so smiley and he takes everything in his stride. We are incredibly proud of him and all he has achieved and hope that, one day, we might have a label that allows us to ensure he gets the best possible care and grows up to be the best version of himself that he can be.

https://www.undiagnosed.org.uk/swanuk-news/ucd-2022-matts-story/