I'll start with the Good News: my type of EDS is NOT Vascular, at least we are 99% certain. The genetic tests are negative. The echo last week shows a normal heart (yea!). That leaves us with Hypermobile. When you score a 9/9 on a test where a 5/9 shows hypermobility, well, not too many questions left there . . .
The Not-So-Good News: I have been really sore and tired with the weather systems this past week. The annoying but somewhat weak storm on Wednesday/Thursday just made me tired. The Nor' Easter on it's way in for tomorrow is exhausting. My legs, feet, and hands hurt. My neck, shoulders, and hips keep popping. Luckily my arms are not statically throbbing, but if you poke me in the bicep I'll either cry or hit my head on the ceiling from the physical shock of pain.
We also know that one of the kids most likely has EDS (though we suspect both do). Nuala had her well-child visit yesterday and my nurse practitioner agreed to check some areas that are not normal for a pre-schooler. Her feet are flattening and she has a mild spinal curvature - both of which are indicators of EDS Hypermobile in young children (who, by nature, are flexible and difficult to test for hypermobility). She'll be meeting my chiropractor next week.
The Strange: Questions that have been brought up by the testing results. How could one sister have had Vascular and the other Hypermobile since the types run true in a family? Do my parents each have EDS? Are my parents related? (the answer to this is No, at least not within the past 300 years)
I now know that my mother and surviving sister do have heart conditions (which might indicate Vascular) but this has not been pursued with EDS in mind. My maternal grandfather also had the same problem as my mother. My father is not unusually flexible, considering other family members, though his brothers and sister are. My paternal grandfather also has had joint and heart problems, as well as being flexible, but has not been overly forward with sharing this information. If Hypermobile has a prevalence of 1 in 5,000 to 1 in 10,000 people, and Vascular is 1 in 50,000 to 1 in 100,000 (according to the EDNF), then what is the chance of two unrelated partners having one of each? I'm too tired to figure this one out.
Not much to do now but get that physical therapy appointment, watch my children, and wait for my next genetic's appointment. Perhaps I'd better get my eyes checked as well.
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