Dylan Blundell is now three years old and he was born with a very rare genetic condition called Helsmoortel-Van Der Aa Syndrome, or ADNP. Dylan was only diagnosed at the beginning of this year as his condition had baffled doctors, he is only the 17th child to been diagnosed in this country and there have only been 150 children diagnosed worldwide.

Dylan was born full term but after a tricky birth he stopped breathing and was taken to the neonatal ward for further monitoring. The doctors had noticed that Dylan had some features that were unusual and thought something was wrong, he was also struggling to feed so had to have NG tube fitted.

Dylan had a microarray test to check his chromosomes as they thought he could possibly have Down’s syndrome. His parents Jonathan and Aimee had to wait a couple of weeks for the results to come back but during that time he was still struggling to feed. When the results came back they said everything was fine and to go home and see how he develops. His feeding had improved and they were allowed to go home.

At three months old Dylan was admitted to hospital with a chest infection and was in and out of hospital for the next few months. He had a video fluoroscopy that tested his swallow and it confirmed that it was unsafe and he was aspirating causing him to have reoccurring chest infections. A few months later he had an operation to have a mic-key feeding tube button fitted, which he still has now. He still can’t have any fluid orally but he is doing really well with his eating and things have improved greatly.

Dylan then had a heart scan and they found he had a bicuspid aortic valve causing a heart murmur, but after regular heart scans it seems to be working fine, but he will need an operation much later on in life.

At 6 months old Dylan wasn’t reaching his milestones and was referred to a physiotherapist and occupational therapist. He has now learnt to roll, crawl, stand and climb. He can walk with a walking frame but not unaided yet, but his parents are sure he will get there soon.

Jonathan and Aimee were asked if they would like Dylan to take part in a genetic research project (100,000 genomes project) when he was round 1 year old, as his geneticist couldn’t come up with any answers for Dylan’s challenges. Just before Christmas last year they received the diagnosis for ADNP. As there is nobody researching the condition in the UK presently it has helped them connect with families around the world who have children with ADNP and get much needed help and advice.

The last 3 and a half years have been an emotional rollercoaster for Jonathan and Aimee, and they are very proud of all that Dylan has achieved so far. He is a very cheeky and happy little boy and they hope he continues to achieve his milestones, even if it may take him a little longer.

Jonathan and Aimee – “ We are fundraising for a specialised travel bed for our son, Dylan. We would be so grateful if you could help us achieve our goal. This would make a really big difference to our life, it would mean we could have breaks away with him or he could stay the night with family, knowing that he has somewhere safe to sleep without him hurting himself. We have been supplied a Safe space bed for him at home since January 2018 as he was constantly hitting his head on the side of his cot and hurting himself. This bed has been so amazing for us all, as he can’t hurt himself and it keeps him safe. We are all getting more sleep too, having a travel version of this bed would make a big difference. Thank you for reading about us and your support”