daughter 15 just got diagnosed with AA

[angela F]

Hi everyone,

I need some help. My daughter who is 15 got diagnosed 14 weeks ago with SAA and her neutrophils were .50, WBC 1.2, hemoglobin 93 and platelets 18. She has had two bone marrow biopsies so far. The last bone marrow biopsy was done six weeks ago and her cellularity has increased from around 30% from the first biopsy to 30 to 50% with the second biopsy. The thing that is confusing the doctors is that her WBC count now has normalized at 5.2, neutrophils 2.0 and hemoglobin 130 and platelets still low at 8. She has had 13 platelet transfusions so far and we are just on our way to the hospital now for another one we figure.We go to SickKids in Toronto. We were going to start the ATG two weeks ago but another test came back and now they are confused as my daughter is showing large platelets so now they are testing for this gene MYH9? If anyone can help us with this I would appreciate it, or know somebody that is like my daughter's case. We are so scared and having a hard time trying to deal with this diagnosis

[Neil Cuadra]

angela F,

SickKids is a top-notch hospital, so I'm glad that's where your daughter is receiving her care. I hope the doctors there can soon reach a diagnosis.

Do you know if her bone marrow results showed abnormally large platelets (macrothrombocytopenia)? If so, the article MYH9-Related Platelet Disorders may help explain why they are testing for MYH9, and presumably which of its syndromes might be affecting her.

[angela F]

Thanks Neil, I will check that out. As for her bone marrow biopsy,I will definitely ask them that question as they never said. They did say she doesn't have the gene for the PNH. Also my girlfriends brother is a pathologist in the states and says he sees this in children before and platelets are the last line to resolve on their own. I don't know what to believe