Spring Is Here!

With the warmer weather I have been feeling much less pain. Tree has suggested that it might be the warmth, but today's storm front did not lower the temperature much (still near 50 C) and my joints are now sore. I cannot tell about the muscle groups since I was feeling better with the spring weather and went out and worked in the gardens; so my muscles were sore before the rain began.

I am starting to wonder if some of the joint discomfort/pain might be arthritis. Osteoarthritis is common with EDS, but I am still considered quite young for it to develop. Mom developed it in her early 40s, so it might not be too far fetched. I'll have to remember to ask at my next appointment.

Good News, Not-So-Good News, and Strange

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.

First Appointment

Today's appointment went as expected. I have Ehlers-Danlos Syndrome, most likely the hypermobility type. This is unusual since my sister presented with so many of the symptoms of the vascular type. Consequently, I also approved the tests to check my collagen. There is no test (yet) that is associated with the hypermobility type, but some are available for the others. Hopefully my insurance company decides to cover this, which is likely since it is being used as a diagnostic test. If insurance does not pick up the bill I am looking at $2,000 to $3,000 in medical costs. A risk we are willing to take.

I also am being scheduled for follow-up appointments. One for an echocardiogram to see if there are problems with the valves in my heart. One with a physical therapist to start me with exercise routines that will strengthen and support my deteriorating joints. And, of course, a follow up to look at the results of the tests and echocardiogram.

And on to the next level . . .

Preparing for Tomorrow

My much anticipated appointment is tomorrow. I spoke with another genetic counselor, Jillian, a few days ago. She has me gathering additional information to add to the medical records they already have and also prepared me for some of what will happen at the appointment.

I filled out a sheet of family information so I had all that with me. This required time on the phone with my parents to answer questions about them and my grandparents that I did not previously know.

I have collected photographs. Primarily these are of my sister so they have visuals of the prominent facial features that help identify the vascular type of EDS. I also have several of my other sister and myself, plus my children and my sister's. I am thinking about bringing one of my parents as well, just in case.

At the appointment I know I will go through a flexibility test. Jillian also mentioned skin features that will be examined, such as stretchiness and how my skin forms scars. She also mentioned that since I have never had an echocardiogram that I may need to have one scheduled; this is to check for mitral valve prolapse which I have discovered is also a common problem with EDS.

More soon . . .