For Leukodystrophy Awareness Month we hear from Katie, whose son has Metachromatic Leukodystrophy (MLD).
Joey was born a happy healthy little boy, He reached all his milestones the same as all the other children his age. Until he was around 16months old, he just wasn’t managing to walk unaided. He could walk along the sofa and holding onto things but never independently.
My health visitor told me not to worry as so many children don’t walk at this age and that the GP doesn’t review them until they are at least 18 months so told me to wait. So that’s what I did. Being a first time mum I didn’t want to go against professionals but I have learned that no one knows your child better than you, and if something doesn’t feel right then listen to your instinct. When he was 18 months I noticed, his knees had started to bend more and his foot started to turn out slightly. I couldn’t wait any longer so decided to go private in November 2021.
That same doctor saw us back on the NHS which is where we saw our Physiotherapist. She assessed him in the January and then again in February, in this time he had lost the ability to stand and was struggling to sit unaided. A few months passed until we got our MRI scan in April. The results showed he had abnormal white matter but wasn’t given a diagnosis.
The paediatrician wanted us to have genetic testing and a Whole Genome Sequencing test.
In June 2022 we got our devastating diagnosis of Late infantile Metachromatic Leukodystrophy (MLD), our world changed forever. We never expected anything like this. Unfortunately in the year since diagnosis we have had to watch Joey lose his ability to walk, talk, sit, eat, hold his head up and more. All his muscle strength has gone. He is fed through a tube and on so many pain medications. He gets dystonia and his bladder no longer works as it should.
Joey has always been the funniest little boy, and even though he can no longer talk, his sense of humour is so cheeky! He’s a typical boy who loves toilet humour. He loves animals, cows being his favourite.
Sing Old MacDonald and he will give you the biggest smile! He loves singing and our days are one big musical. We make the most of every day, and he brightens up any room with his beautiful smile.
Joey is my only child and knowing I will lose him to this horrible disease is unimaginable, the one thing I can do it raise awareness and hope that everything he has had to endure isn’t for nothing. My hope is one day we can change the future and there is no more MLD. What I would do for things to be different for Joey and I will forever feel helpless. Newborn screening can stop any more children being “too late” for treatment.
Since diagnosis we have had much more support, we are supported massively by or hospice Martin House. The MPS society have helped me with emotional support and financial grants. It was lovely to meet Donna and Sophie at the MLD conference this year.
Katie
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