Background: Since Nate was about 1ish he has had pretty significant bloody nose episodes. I am washing bloody sheets about twice a month.
After trying the nose sprays and taking him off all blood thinning type supplements (I.e. Fish oil) and finally a cauterization that worked for one side but not the other, I'd had enough. I don't think the pedi, dev pedi, ENT or genetics got what we were telling them about the severity of these bloody noses.
We just had our yearly genetics appointment and I insisted on a CBC and blood draws for clotting issues. Turns out, Nate's RBC, WBC and Mean platelet volumes are abnormal. These results, in conjunction with how his chromo deletions are arranged, hearing loss, short stature and thumb abnormality have triggered a Chromosome Breakage Study. They want to rule out Fanconi Anemia.
The genetic counselor said not to Google. I did. Basically FA affects how blood cells replicate. You get a bunch of abnormal blood cells and your counts and volume of normal functioning cells gets lower and lower. Eventually, you will get some form of leukemia. Average life expectancy is 30.
I am really hoping this potential dx falls by the wayside like the blindness and glaucoma dxs. We are going to wait until our Endo appointment on Dec 3 for the blood draw. Here is an example of the amount of blood loss he has. The circle next to the stain is a quarter.
I don't understand why our lives have to be this way. It always seems like we get awesome news (no aid needed at school) and before we can even really enjoy it. we get totally sucky news or news that keeps me awake at night worrying until it is ruled out.
Thanks for letting me whine.
WAY 2 Cool 4 School