Received geneticist's report, am I reading this right?
To recap, I saw a geneticist two weeks ago. I was, at that time, diagnosed with familial joint hypermobility syndrome, on the grounds that I've never had joint repair surgery, just a chiari decompression. She told me, at the end of that visit, to return in two years and hopefully we'd have a test by then, so she could verify her diagnosis. However, this weekend, I got my copy of her report in the mail. I'm seeing rheumatology tomorrow, but I wanted to throw it out here, too, because you people always say things that help me to ask the right questions when I see my doctors.
I've read this report over, multiple times... passed it around the family, and so forth. There is not one single mention of this "familial joint hypermobility syndrome," not in any of the four pages that the geneticist wrote up. The way she wrote this, it's as if that in-office diagnosis never even happened. The report says, in part, "Her findings are highly suggestive of Ehlers-Danlos Syndrome type 3, also known as the hypermobility type." It came with a fairly large packet of printouts from
http://www.ehlers-danlos.org, a site I'm not familiar with, but I remember seeing the top sheet in my file at the geneticist's office. They just ran copies of their own printed research, and enclosed it with the report.
So... I think I might have just gotten diagnosed by mail. I probably have questions, but I'm in a little bit of shock and confusion so nothing's coming to mind, other than the obvious. Am I right to presume that the doctor must have revised her diagnosis at some point in the 9 days between my visit, and the writing of this report?
