BiographyJonah was born at 34 weeks and initially required ventilation and a 3 week stay in NICU. Jonah was still very tiny when he was discharged from NICU but we were reassured that he would catch up. Jonah was a content baby but feeding was always a battle, he wasn't interested and almost always vomited after a feed. After several trips back and forth to the doctors with concerns over Jonah's poor weight gain and lack of growth, we were referred to a paediatrician at our local children's hospital when Jonah was around 3 months old.
During this appointment, the paediatrician prescribed a special milk and medication for reflux. He also expressed concerns over Jonah's hips and his sacral dimple and ordered an ultrasound scan. The scan revealed that both of Jonah's hips were completely dislocated and would require surgical correction. It also revealed that Jonah had congenital defects within his urinary tract. The paediatrician explained to us that the issues with his hips and urinary tract, along with his growth issues and failure to thrive, would probably mean that there was an underlying genetic syndrome to blame. We were referred to clinical genetics for testing and told that it could be a long wait to find answers, if any answers were to he found at all.
Jonah has been in and out of hospital with serious and complicated UTIs caused by the congenital defects in his urinary tract since he was 6 months old. He has also had several operations in this area and for several months had to be catheterised 4 times a day at home. He spent his first birthday in hospital following a serious UTI, then just 3 days after his first birthday he had both of his dislocated hips operated on. He then had to spend 6 months in plaster cast from his waist to his toes. Jonah being Jonah battled through this with a smile on his face.
At this point Jonah's feeding issues worsened and he was sent home from hospital following his hip surgery with a nasogastric feeding tube. This has since been changed to a Mic-Key button gastrostomy tube and Jonah is fed 3 times during the the day and for 10 hours continuously overnight.
In February 2019 we received a call from clinical genetics to say that something had been found in Jonah's DNA samples. The doctor explained that Jonah had an alteration on his KMT2A gene, also known as Wiedemann-Steiner Syndrome. This was the cause of Jonah's medical issues and also his global developmental delay, learning disabilities and behavioural issues.
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