Fanconi Anemia

[JeriM]

I was diagnosed with ITP in my 20's. Diagnosed with moderate AA in my 40's. Diagnosed with genetic Fanconi Anemia at NIH last year at age 59, but it is not a definitive diagnosis, since it is a type they have never seen before. I receive weekly platelet transfusions (my platelets are in the teens). Does anyone else have FA?

[JeriM]

I have almost none of the classic signs for FA. Only some conditions that we now can look back on and say, oh, that's why. They are still running various tests on me, trying to make sense of it. It's very frustrating to not know, because the treatment is completely different (NIH first accepted me, and then turned me down for the Promacta trial).
I am having an impossible time trying to find anyone in my age group (60) with this disease - it is almost always a childhood thing, and they die before they are 30.

[Hopeful]

Hi JeriM,

I am curious if you failed the DEB test or if they detected a gene mutation that has been associated with Fanconi? There are so many more gene mutations that they look at now vs even 2 years ago. It seems like they are bound to find something! The question is what to do with that information...

Are they considering ATG for you?

[JeriM]

They found 2 gene mutations for mosaic FANC-A, nothing else. We are having another chromosome test performed at a different lab, and we just did a skin biopsy to have a different source of cells. They are also asking to have one of my sisters be checked because she had breast cancer, and sometimes FA goes hand in hand with the BRCA mutation (which I don't have). What to do with the info? Nothing, so far. I have both NIH and UCSF doctors putting their heads together, and they don't want me to start any treatment yet (although Danazol may be on the horizon). My counts are slowly and inexorably going down. I keep pushing and pushing for answers, and have met with another geneticist, but there doesn't seem to BE an answer at this time. I do know they are continually improving the testing and discovering new information - it is all very cutting-edge. Hopefully, they will also come up with a cure....

[Hopeful]

Hi JeriM,

Have you tried joining the FA forum that can be found through this link:
http://fanconi.org/index.php/family_support

I don't know how active the group is, but it does seem to cater to adult patients and parents of children with FA.

I had FA genetic testing done as part of a research study. They would not tell me my results at the end but said to do genetic testing/counseling if I was interested. (I haven't done this yet.)

[JeriM]

Yes, thank you.