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Old Fri Apr 4, 2008, 08:02 PM
Chirley Chirley is offline
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Join Date: Oct 2007
Location: Logan City Australia
Posts: 1,100
Definitive diagnosis

Hi Neil, I think the reason the doctor wants to do more tests is that I don't have a difinitive diagnosis. All they know is that I've got bone marrow failure but they don't know why. The MDS diagnosis is an educated guess and they want to know for sure what the failure is caused by. I have already had 5 BMBs with out any definitive diagnosis and refused to have any more diagnositic tests until my blood tests show some major change that indicate that the disease is evolving. I know my white cells are dropping but they've done that before and recovered spontaneously without any treatment. Thanks for pointing out that the bone marrow transplant would be the same as a stem cell transplant. I thought that with the stem cells you didn't have to knock out your own immune system but that with the bone marrow transplant that you had to have chemo (or similar)to knock out your immune system. Oh' by the way I have asked my doctor for the blood test results and he nods his head and says "no worries" but then promptly forgets. I only ever see him when I'm in hospital, I don't make appointments to see him in his rooms, so unless he tells the nurses that I can have the results, they can't let me have them without his permission. He can be annoyingly fogetful, but I REALLY like and trust him anyway. I will follow the links you sent me when I have more time. (have to go to work now). and thank you. 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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