Special Needs

We (almost) have an answer

My DD was referred to genetics 4 years ago for rare dermatological conditions.  We've had a geneticist that I haven't been real happy with and our derm came in contact with a researcher at Yale and put us in touch.  The researcher did exome sequencing on DD and has discovered a mutation.  Because it was done as part of research study, he cannot tell us the results (although he can, and did, tell our derm).  Now the derm is ordering clinical testing to confirm the mutation and we should have our answer in a couple of months.  The derm did tell me that the diagnosis is relatively good news (much better than our worst case scenario) and that they are aware of one other person that has the same mutation.  I can't believe that we're going to have an answer soon.  It's even better that we didn't have to spend thousands of dollars to get it.  =)
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