When Little Sister was diagnosed with Ehlers-Danlos Syndrome (EDS) the summer of 2008 I was very focused on what that meant for her and to a lesser extent me. One of the first things I did for me was try to find an adult doctor so that I would have someone following my progress. However, the doctor I found at the University of Pennsylvania said he disagreed with my daughter’s doctor and said I didn’t have EDS since my skin was not stretchy. This was despite the fact that I bend in ways most adults cannot. I can put my legs over my head, I can bend my thumbs to my arms, and I can hyper-extend most joints on my body. I have a classic “cigarette paper” scar on my leg. Those were the most obvious thing, but as a doctor he probably should have picked up on more things. A few months later I received my MS diagnosis and that has occupied most of my time from then forward.
That all changed during my CCSVI angioplasty this past March. After the procedure, I had what seemed to be a dysautonomia reaction when the sheath was being removed. That freaked me out a bit and made me focus on the EDS side of things again. Thankfully Dr. Sclafani had an EDS doctor to recommend. I called her and four months later got to see her.
I highly recommend Dr. Francomano in Towson, MD. That was possibly the best doctor’s appointment I’ve ever had, and I’ve had a lot of them. She had reviewed the 30+ page questionnaire I completed and the test results she requested. She did a thorough examination. She noted all of the things I expected her to find and plenty more. I learned that my knees go 20 degrees past straight, that the whites of my eyes are quite grey, that my shoulders have hypermobility, that my feet are flat (but only when I stand), that my pinkies extend past 90 degrees, many of my reflexes are 3+, and several other things. I learned that my crumpled ears are an EDS thing, too. She respectfully disagreed with her colleague at Penn and confirmed what I already knew; I have EDS.
Next I need to learn more about how to manage my health. To ensure she puts me on the right path, she ordered several tests. I need to do a Tilt Table study to figure out my blood pressure drop problems and the dysautonomia. I need to have an upright MRI to check my disks in the cervical spine while looking straight ahead and then looking down to see if there’s any disc damage that would explain the hyper reflexes. I need to do a sleep study to figure out if I’m getting enough REM sleep. Lack of REM sleep could explain my chronic fatigue and insomnia issues. I’m also going to get another echocardiogram to serve as a baseline. I don’t have the results of the one I had in 2008 and haven’t been able to track down the results. Lastly, I’m going to have orthotic inserts made for my shoes. Little Sister has DAFOs (actually she’s graduated to Sure Steps) that extend past her ankles, but the doctor thinks I’ll be fine with just a shoe insert. The hope is to keep my ankles from collapsing. Hopefully all of this won’t cost a small fortune!
One of the most interesting things to me was her interest in the connection between MS, EDS, and CCSVI. It seems that more and more doctors are starting to connect the pieces and looking outside of their small boxes. Cardiovascular health has long been an area of focus for EDS doctors, but until now they have focused on the heart’s valves and arteries. However, if there are issues here, why couldn’t there be problems with the veins? Veracious veins are a known issue with EDS, so why not explore our other veins? It’s an exciting time to have these diseases. Hopefully doctors will start working together in an interdisciplinary way and begin to connect more dots. I’m so fortunate to have found doctors like Dr. Sclafani and Dr. Francomano who are the kind of people who will do just that.
Lesson learned: never trust a first doctor’s opinion. My MS diagnosis was delayed by 7 years and my EDS diagnosis was delayed almost 3 years. Go with your gut and continue to seek answers!