Okay, I will attempt to explain why I am no longer eligible to donate bone marrow (for the time being), to the best of my non-doctor, non-nurse ability. There is a family history of aplastic anemia. My uncle and brother had it. Apparently this illness can result after a virus or from taking a drug, but in our family it was unexplained. When the doctors at NIH began probing my family medical history they were concerned and curious about this illness and flagged it in my file. Then they were further interested to learn that my younger brother had been treated at NIH about 18 years ago. They asked if they could contact the doctor who did research on him, Dr. Young, and get some information. I said yes and so they did. Dr. Young was very excited to hear that they had contacted me because they had discovered a genetic mutation in 2007 that he felt was responsible for my brother, Chad's, illnesses and death.
SO, my mom and I went back to Bethesda, MD last week to give blood samples for genetic testing. Mom had some of Chad's hair and they asked for that too. We met with Dr. Young and the doctor who discovered this mutation and they are very positive that they will find the mutation in Chad's DNA. They are also pretty sure that we won't have it. They told me that a family history of unexplained aplastic anemia should have precluded me from donation and that I should have been removed from the donor list. So they are going to map the gene in our DNA. This is a long process and they have to do it twice just to be sure that they have the correct result. So if I'm negative and Chad's hair is positive, they'll reinstate my donor status on the registry (too late for the 54 year old AKL patient), but if we're both negative, then I have to stay off the registry until they figure out where the aplastic anemia came from.
It's all very confusing but at the same time I feel hopeful that our 40 year old family medical mystery might just be solved before the end of 2008. This mutation is responsible for liver and lung disease, all problems which our family members have had. It would have been horrible to have donated marrow and to have had the transplant fail because of a genetic mutation (which is what would have happened if I turn out positive). So at this point we're waiting to hear back from NIH with results. Dr. Young is pretty sure that I'm negative because I've made it to the age of 32 with no symptoms and my health is practically perfect. All of the family members who have died starting exhibiting symptoms in their teens or early 20's. So chances of my other brother and I having this mutation seem to be slim. Really only time will tell.
Again I'm quite amazed to see God's hand in this. There was a reason my mom kept Chad's hair. There was a reason I went to NIH and not Georgetown Hospital for my physical exam. There was a reason I got pulled off the registry as a potential donor. My initial hope for helping this woman may be a thing of the past, but perhaps something in our medical history will help other family members and people who have this mutation.