Frankie had been very slow in meeting his milestones. He was slow to sit up, slow to support his own head and slow to talk.
To be sure, however, he decided to follow his diagnosis up with an MRI scan. With cerebral palsy, there tends to have been something at birth that has starved a baby of oxygen. Frankie was a plannedFrankie’s MRI didn’t show any signs of scarring on his brain and instead showed a general fading of white matter all over the brain.Leukodystrophies are rare, progressive, metabolic and genetic diseases that can affect the brain, spinal cord and often the peripheral nerves.
We’d never heard of anything like this before. After Googling it for information, we discovered that if your child has leukodystrophy, they usually have just two years to live. He goes to mainstream school and uses a walker to help him move about. He’s out in the playground with his friends. His speech isn’t amazing, but we can understand him and he’s even learning to read.Hopefully, Frankie will be a good candidate for this trial
We were very lucky in some ways. There are about 20 known cases of H-ABC in the UK, although this number is likely to be much higher, and the parent of one of these children just happened to be a geneticist.
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Source: Glasgow_Live - 🏆 4. / 97 Read more »