Phil/Gav - any chance this can be temporarily pinned please?
Morning fellow blues – meet my nephew William.
He’s an absolutely great kid, he really is. It was originally thought he suffered from severe autism, but as you’ll read below, it was found out in the last couple of years that he suffers from an incredibly rare genetic disease called MPS III Sanfilippo syndrome that affects his brain and spinal cord. You won’t have heard of it – when I say rare, I mean really rare – as stated, only 83 babies were born with this in the UK between 2010 and 2020 – that’s roughly 1 in 100,000. He’s already lost the power of speech, and unfortunately it is a degenerative disease, and the truth is, he’s not going to get better.
It’s basically a form of childhood dementia, and despite the fact that Addenbrookes and Great Ormond Street hospitals are doing what they can, the fact remains that there is no cure.
My brother and sister-in-law are determined to keep him at home for as long as possible, and as a result, their house is going to require major alterations such as a hoist lift and wet room, as he will eventually lose mobility, and so to help pay for this, they’re asking for help.
A JustGiving fund has been set up, and I would ask everyone for a huge favour with regards to this, and that is to spread the word (It obviously helps that they’ve roped in the BBC!) – the more people who know, the more people can help.
Like I said, William is a great kid – he’s a loving affectionate lad, who, if you go round to visit, will drag you over to the sofa and give you a hug that involves clambering all over you (and bearing in mind he’s now 14, you need to be prepared for this!) – he’s an absolute whizz at jigsaw puzzles, got a fantastic sense of humour, and he’s a great big brother to my niece.
It’s not a disease that’s well known – certainly we’d never heard of it beforehand, and I’ll also put a link to the MPS Society that gives more information.
Thanks for reading.
https://www.bbc.com/news/artic
https://www.justgiving.com/cro
https://mpssociety.org.uk/cond [Post edited 15 Mar 10:41]
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