Euan had no developmental problems until he was about 5 and a half years old when we started to have concerns about lack of weight gain, followed by issues with co-ordination and balance (although he had previously learnt to ride a bike) and then lots of incontinence issues. We thought that he had dyspraxia and he was referred to the community OT team. While we were still waiting to be seen, things deteriorated further and he suddenly started struggling to walk. Following blood tests and an MRI scan, he was diagnosed a few months later at 6 and a half, with Metachromatic Leukodystrophy, a genetic neurological condition which is degenerative and life-limiting. It affects the protective myelin sheath around the nerves which is gradually wasting away. All areas of the brain are affected leading to profound physical and cognitive disabilities.
A year after diagnosis, Euan was completely unable to walk and required hoist transfers, his speech had virtually gone and he had a gastrostomy. At 9 years old, he now has very limited motor function and poor head control, some visual problems and difficulty swallowing. It’s unclear how much he understands as his communication is so limited, but he probably understands more than we think he does! Fortunately he has not yet had any seizures and he is otherwise very healthy.
Euan is a very happy and sociable boy – he can still smile and laugh out loud which are moments we treasure.