Sean's Medical Story

In the summer of 2010 Sean visited his GP to have a lesion on his head checked out.  It was discovered to be a basal cell (skin cancer) spot and a later visit to a Dermatologist found ten more.  Also at that summer check up his doctor noticed that his white blood cell counts were low, but didn't think much of it, thinking he may have had an infection.

Later that summer Sean got hand, foot and mouth disease while we were on vacation.  This is rare for adults and the Redi-Med doctor in Vail, CO said that the low WBC, numerous basal cell spots and strange contraction of hand, foot and mouth were cause for some concern. 

We visited a hematologist who quickly ordered a bone marrow biopsy and began to talk about potential leukemia.  When things at that clinic weren't progressing as quickly as we would have hoped, we went to the Mayo Clinic. 

There we saw every type of -ologist around and it was discovered that Sean has no immune system, but no one quite knew why.  Finally in March, he was dismissed with the message that he may just have low numbers and may have always been like this. 

In June 2011 we heard from the Mayo Clinic that a test they had done early on had been done incorrectly.  They retested Sean and found that the test that had initially come back negative for Fanconi Anemia, was in fact positive. 

Fanconi Anemia is a rare recessive genetic disorder.  It is an inherited type of anemia that leads to bone marrow failure. Though considered primarily a blood disease, FA may affect all systems of the body. It is a complex and chronic disorder that is psychologically demanding. FA is also a cancer-prone disease, affecting patients decades earlier than the general population.

Typically FA patients are diagnosed at a very young age, so in some ways Sean has already beat the odds being diagnosed at 32!  To learn more about FA, visit fanconi.org.

And so it is because of this diagnosis that we find ourselves on preparing for a bone marrow transplant in December 2011.