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Hi Birgitta,
We told the renal doctor that we could do peritoneal dialysis at home but it takes a few weeks for the dialysis catheter to mature enough to use and she didn't have the time to wait so they had to start haem dialysis straight away.
The angio showed a narrowing of one of her coronary arteries but it's not bad. Just bad enough that when her BP drops, like with dialysis, she gets angina. There is nothing they can do. Her aortic valve stenosis isn't as bad as they first thought.
We are waiting for her renal physician to let us know how he's going to proceed.
Mum seems quite happy and comfortable and that's all that matters.
We'll just keep hanging in there.
Regards
Chirley
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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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