Frustration

I've been researching WAS on and off for about 5 weeks now. The hema. was not able to tell us any details of the mutation analysis. He did give us a copy of the report, but it's not very informative, nor does it make any treatment recommendations. The hema. said David is like a "time bomb," meaning, his symptoms could reverse at any time.

From my research full blown WAS has low IgM. David's immunoglobulins are normal - we saw the test results. They have always been normal. His blood tests have been normal too, except for the very low platelets. Apparently, the "time bomb" effect means his IgM could change at any time in the future.

I was so frustrated when we left our consultation. I was not satisfied because I feel David might have a mild form of WAS, and would like to talk about other alternatives besides a BMT. I was warned by another mom whose son is 12 years old and has a mild form of WAS called X-linked Thrombocytopenia (XLT). She said the doctors do the best they can but they are strongly influenced to "fix" sick children and that David my very well not be sick.

The DNA says the mutation is on 257 G>A (R86H). This means the mutation is on exon 2. He has a missense mutation, not a deletion or insertion or nonsense mutation. In another medical article, it specifically says, "Exon 2 is the commenest site for mutations associated with XLT and mild forms of WAS." David's mutation is on Exon 2.

This is so frustrating. I feel like my questions are not being answered and that they want to jump right to the BMT. Since we will be at Stanford tomorrow, maybe I can talk to someone.