Noah was born in 2016 and within a few weeks it became apparent that something was profoundly wrong. He was in a great deal of pain, twisting and contorting and struggling to feed. Testing revealed he had H-ABC when he was just 5 months old.
It was a total bombshell for our family and compounded by the fact that Noah is classed at the severe end of the spectrum for this disorder, his brain development stalling at just a few weeks old; he will never have the opportunity to walk, talk or eat normally.
As with many children with this condition he has a long list of resulting medical complications including full body dystonia, cortical visual impairment, hip migration, and scoliosis.
These will only get worse over time. He is also tube fed, classified as quadriplegic and is non verbal.
Noah requires a significant amount of medication and intervention to keep his pain under control and requires 24 hour care.
Despite all this, Noah has the most beautiful smile which lights up the room. He loves music, the sound of his big brother's voice and to feel involved in what's going on around him. He has an infectious laugh and a cheeky side to his personality.
It's so hard to see him struggle and suffer and that's why the research funded by the Foundation is so vital to prevent other children and families having to endure the severe consequences of this condition.
Please support us to help fight H-ABC.