On Wednesday we had an appointment with a genetic specialist to talk about Alex and the form of Ectodermal Displasia that he has. After a thorough exam, it was decided that we would test for a specific form of ED. Unfortunately, the kind that we actually think Alex has doesn't have testing available yet, even though though the gene is identified. The doctor thought it was at least worth testing for this other form, which also effects hair besides the nails and teeth. Obviously Alex has really short, fine hair, which can be a symptom, but in his case we really don't think it is at this point. We'll have results in about 4-6 weeks. The downside of this news is the fact that most likely we won't know genetically where this came from, which means we won't know how future children may or may not be effected.
In other news, NEXT Wednesday we are going to be a part of a dermatology conference downtown. We got a call a few weeks ago and were asked if we would be interested in bringing Alex downtown to be examined by about 20-30 dermatologists. THey will then meet together and talk about their impressions. We're excited about gaining so more information and also spreading knowledge about this rare disease.
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