[nancydil]

Hi Marilin,

I can only imagine what you are going through, but I have to assume that with 2 children with AA, your pediatriac hem/onc is agrressively pursuing a genetic link. Have they ruled out chemical exposure, viral, auto-immune, Fanconi's Anemia, etc? You need to make the Dr aware of a research study(Inherited Bone Marrow Failure Study)IBMFS, through the National Institutes of Health(NIH), at the US Dept of Health in Bethesda, MD. They have available only to researchers a new test called Telomere shortening that can diagnose a genetic defect when all other testing currently available to doctors cannot pinpoint a cause. A blood sample is FedEx'd to Vancouver,BC, Canada where the test was developed by Dr. Peter Lansdorp. NIH will send the test to kit to your local Doctor, they can draw the blood and FedEx it to Canada. It generally takes 5 - 8 weeks to get the results. Please do a search on telomeres, the NIH study, and Dr Lansdorp. If you wish to contact the NIH directly, call the research division, the National Cancer Institute, @ PH# 1-800-518-8474. Ask to speak with Lisa Leathwood,research coordinator for the IBMFS being conducted by Dr Blanch Alter and Dr Stephanie Savage. Do a search on Balnch Alter, too.

My child was diagnosed with SAA at age 6 and for three years we saw every expert, had every test under the sun and noone knew what the cause was.
We found the research study and my child did test positive for extreme telomere shortening and thus has a genetic defect. We do not yet know if it is spontaneous or inherited because they have yet to discover most of the genes that cause bone marrow failure. Immunotherapy and growth factors cannot correct a genetic defect. My child had a transplant in Jan'08, is doing really well and went back to school two weeks ago.

Good Luck to you,

Nancy