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DENISE

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Oh ,I have not checked the caring bridge site in a few days so happy to hear Miranda is out and it is not her line but sad to hear about the bone marrow issues getting worse. Sam, age 6, has bone marrow failure - quite significant and progressive since the age of 2. No issues with bone marrow before that. Initially he only needed blood every month - He is now dependent on 4x/week matched platelets and 2x/week red cells and just squeaking by with his own white cells (makes about 2000 unless ill - then they drop rather than rise). Bone marrow biopsy shows a marrow that is full of vacuoles (empty spots where there should be new red cells) and sideroblastic anemia - he has the findings they see in Pearson syndrome though his DNA does not show he has Pearson syndrome. he is diagnosed with a complex 1 and 4 defect in OxPhos. Zach, age 11, has bone marrow failure that was not evident until he was 7 and has not progressed since then. He only needs a trnasfusion of red cells every 3 months unless ill. Both boys have significant drops when ill in all their counts - sounds like Miranda is doing this too. They need many more transfusions when ill with viruses or bacterial/fungal sepsis. What can I do for you or tell you? Let me know and I'll do my best to help. Please feel free to email me privately or on list or call me - whatever works for you. Anne

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