Diagnosis denied

Okay, so we got a call from Henry's doc a few weeks ago that preliminary results from his skin biopsy to test for Fanconi Anemia were negative. Phew. Another bad one bites the dust. And Dr. Kurre was a stone's throw away from determining that what Henry is actually suffering from is Chronic Benign Neutropenia. The chronic part sucks but the benign part is great. It's basically no big deal. A kid with CBN might have more infections but the neutropenia typically resolves itself by the time the kid turns five. All in all, if your kid has to have something, this isn't that bad. 

Enter phone call número dos. After talking with another pediatric hematologist oncologist at Seattle Children's Hospital, it turns out there are a few other tests that it would be prudent to have done. One is for a disease we had already crossed off the list. Hello, Shwachman-Diamond Syndrome, it's not nice to see you again. And the other is for some crazy rare, progressive bone marrow failure syndrome called Dyskeratosis Congenita. As special as Henry is I don't think he's the one out of a million that has that. (It's estimated to occur in 1 in 1 million people.) Our doc recommends waiting for about six months to see how Henry does. When questioned, he explained that bone marrow failure is a protracted process so we don't have to worry about waking up three weeks from now to discover that Henry's bone marrow is failing. We've got some time to just let Henry be Henry without taking him back for more tests and appointments where he is poked and prodded. Right now we are optimistically hopeful that our little man has CBN and nothing else, well, except for a high level of cuteitude (for cuteitude definition, click here).