Just got a call from the Genetics office at UVA. They finally have the results of my genetic testing to confirm or rule out the Vascular Form of Ehlers-Danlos syndrome.
Thanks be to God that we got a normal result back. Praise God!
This means I have the “Classical” type of Ehlers-Danlos, which involves hypermobilility of the joints, tissue fragility and the pain issues that go with those. The counselor made sure I understand that this *doesn’t* mean I have zero risk for vascular involvement, because I do have some cross-over symptoms, but that it means I have far less risk than if I’d tested positive. They want to see me in a year for a follow up, and we’ll take it from there.
My hematology appointment is set for the 16th. I fully expect that to come back normal as well. Basically, when they read my MRI results, they saw what looked like areas of “red marrow reconversion” in my spine. Everyone’s born with red marrow, and as we get older, it is replaced with fattier yellow marrow. Sometimes the marrow undergoes a reconversion back to red marrow. There are a lot of reasons this can happen, and most of them are fairly benign. For instance, anemia, etc. But there are some more serious things that can be associated with that finding, so they just need to figure out what’s what, or if it’s just a benign process in my body. I really don’t have any worrisome symptoms that would point to a serious cause, so in all likelihood, this is a completely benign finding, and most likely a “CYA” type situation where they want to make absolutely sure there’s no other underlying reason for what they saw on the MRI. Even so, I’d appreciate prayers for the appointment.
After that appointment, I think I can just relax a bit and settle into figuring out what Ehlers-Danlos is going to mean for me (and possibly the kids) instead of waiting for and wondering about various test results.