Well we have just had the results back from the electrodiagnostics we had redone at Alder hey a few weeks ago.
When charlie first was reffered to the hospital with his Nystagmus the consultant thought he may have Albinism because of his associated effects ( very very photophobic, nystagmus, visually impaired etc .... ) when he had the ecd test it showed no sign of it but showed up an abnormality in the brain ... he had it redone this month and the results show that he definatley 100% DOES have Albinism ! So wether the first test was just inaccurate because of his size ( he was only about 6 months old ) or it was read wrong i don't know ! but now we actually have a name and a reason for the visual side of his problems which just means SO much.
Obviousley it's a lot to take in and something we need to learn about more and learn how to deal with it but it is a huge step forward in Charlie's journey !
It is rare from what I have read so far and the only statistics i can find are that 1 in 17,000 have albinism in the US ( can't find stats in uk ! ) So it is pretty rare in comparison with other things which i hope won't mean it is difficult for us to find people to understand and support his diagnosis as he is growing up!
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