Hi Catherine,
Yes, it's been a roller coaster alright but at the end of the day, I'm alive and the MDS has improved.
When I was in hospital in Oct/Nov my neuro doc asked another neuro doc from another hospital to come and see me for a second/third/fourth opinion. This new doc told me that my best chance of survival in the short term was to have an urgent BM transplant. Well, that night, I was convinced I had a short time to live because no donor had been found in 7 months of looking. It sounds as if I gave in but I meditated on it and came to peace with death. So, even though it was an emotional time, it did make me confront my mortality and realise, while not exactly wanting it, I would be able to accept it peacefully when the time comes.
In the meantime, I've been given a reprieve and even though I have physical problems I'd rather not have, I'm still enjoying the life that has been given back to me.
On the copper metabolism thing, it's all above my head. It has something to do with cations, enzymes, proteins and their interactions (or lack of). Even my haem doc says he doesn't understand it but that he isn't a Prof of Metabolic Medicine. He said that I was lucky enough to come to the attention of Australias' most qualified doc in metabolic diseases but even he is not sure of the mechanism of the chemical reactions (if that's the right way of expressing it). Apparently, there's a huge amount still to be discovered in this field and that's part of the reason the Prof is so interested.
I wish you and your husband all the best.
By the way, how is his Vit D level? I had very low levels.
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Copper deficiency bone marrow failure (MDS RAEB 1), neuromyelopathy.
FISH reported normal cytogenetics but gene testing showed
Xq 8.21 mutation
Xq19.36 mutation
Xq21.40. mutation
1p36. Mutation
15q11.2 deletion
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