• Care4ASH1L

The incredible journey of Cadan - UK

Updated: Mar 11

This blog chronicles the invincible journey of Cadan, as narrated by his courageous mother:


PRE-BIRTH:


Cadan was originally diagnosed with a condition whilst I was pregnant called a Congenital Diaphragmatic Hernia (CDH). CDH is a hole in the diaphragm which caused all his organs that should be in his abdomen move up into his chest cavity thereby affecting the growth of his lungs. It put his heart under immense pressure and pushed it to the wrong side of his chest. We got this diagnosis at our 20 weeks scan which showed there were abnormalities on our scan and our care was then transferred over to a major hospital where they were familiar with dealing with more complex cases. This hospital is around 20 miles away from where we live and we would make the journey once a week for regular scans and testing to see if he was improving but he wasn't. The survival rate of a child with CHD is 50/50 however upon further tests we were told Cadan's would be 30/70 because of the severity. They then at this point (21 weeks' gestation) offered us a medical termination or the option of been entered into a trial which was been conducted in a hospital 250 miles away from where we live so we clung onto every bit of hope and made the journey for the procedure to be done while he was in my womb. It was a procedure where they fit a feto scopic tracheal balloon in the baby's windpipe to help the growth of the baby's lungs. We had to make a second journey 4 weeks later for this to be removed because if the baby was born with this it would obstruct his airways and wouldn't make it. Unfortunately, because they had intervened in my womb twice within 4 weeks it caused me and baby to get an infection which ultimately set me off into pre term labour at 34 weeks. He was born at 34+1 weeks weighing 4lb12oz and the doctors couldn't believe how much he would just take in his stride.

Post-Birth:




Cadan had surgery to repair this at 5 days old and came home before his due date. However, he suffered a lot of setbacks which lead to him needing oxygen at home and to be fed through a feeding tube. He had appointments with numerous therapists who all agreed he was "delayed" and they put that down to him spending so much time in hospital and been laid on his back for most of the time unable to move. However around 5 months old he was diagnosed with global development delay as he never met any of his milestones. Having an older child I had a feeling in my gut that something wasn't quite right and I mentioned this too his surgeon at one of his appointments and he agreed with us and said he thought there could be something wrong with his genetics.


The Diagnosis of ASH1L:


He did the initial genetics testing and they all came back negative. He got us entered into another trial called 100000 genomes project which analysis Gentetic within the genetics, me his dad and Cadan had to have a blood sample taken however because this was a trial there was always a chance, we might never get any answers to what was causing Cadan's problems. 6 years later nearly to the day we got an appointment through for a telephone appointment with the genetics team who informed us that his genetics results say he has an ASH1L de novo deletion neither of these were present in me or dad. Cadan suffers a number of health problems which we could never be linked to his original condition he was born with. He has hyperopia, Anti stigmatism and a condition called Drusen's syndrome of the eyes. He has moderate to severe learning and development delays. He suffers constipation and often needs to be hospitalised for frequent bowel blockages. He was born with cryptorchidism although he has had surgery to correct this. He has scoliosis of his spine and hypotonia. We are currently in the process of diagnosis for him been on the autistic spectrum. Although he has all of these problems, he has a great quality of life and doesn't let anything stand in his way. The genetics results didn't really make much difference for us apart from solidifying what we already knew and getting him the correct help he needs.



The only way is forward for us now we finally have answers.