I mentioned a looonnngggg time ago that I was making my “EDS pilgrimage” to the geneticist to finally get officially evaluated by a geneticist. While many doctors have said that I have EDS, including a rheumatologist, many other doctors won’t consider the diagnosis to be true, however, unless it’s from a geneticist. So off to the geneticist I went!
The appointment itself was very long. The first half hour involved a genetic counselor asking me about all of my symptoms and also my family history. In fact, the family history took up a large chunk of this time period and I only have one parent’s history to offer. I wasn’t expecting them to ask about my medical history or care too much about my symptoms since they asked for medical records before hand, but they were definitely interested in every single little thing with that too.
After that, the doctor came in and performed an evaluation. She measured EVERYTHING. Including, for example, the distance between my eyes (2.4cm). She asked me to perform certain moves to test my flexibility, making sure to tell me that they were not normal ranges of motion and shouldn’t be done. She listened to my heart, checked my eyes, checked my abdomen. She did the full work up…seriously, she even wrote down that I have gray hairs! After that she took pictures. Looottttsss of pictures. I have a weird palmar crease. Picture! My elbows are seriously flexible. Picture! Flexible hands? Picture! She even took a picture of my tongue!! It’s like a whole new world going into a genetics appointment. Thankfully I was told today that I pull off the hospital gown look.
After the evaluation, she discussed a lot of things that were a possibility and the reasoning behind her theory. This was rather confusing to me because there was a lot going on and a lot to take in. This is the main reason I haven’t written an update about the appointment yet. I got copies of the appointment summary today though so I can better relay what she is thinking now.
For one thing, reading a genetics report can be very unflattering. I have “simple ears” which are low set. I have a small jaw. I am disproportionate (more on this later). But on the plus side, I have remarkable extremities and soft skin! Overall, I scored a 9/9 on the beighton scale. They pointed out at the appointment that my flexibility was rather astonishing and this is coming from a doctor who sees EDS patients all the time. Unfortunately she (the geneticist) seems to be leaning towards more vascular diagnoses. She wants to test me primarily for Vascular-EDS. I am also being tested for Marfans, although she said I may just have Marfan overlap due to the disproportion of my limbs. She’s also testing me for Loey-Dietz Syndrome and TAAD (Thoracic aortic aneurysm and dissection). Those are all icky vascular diseases that have a high rate of aneurysms and dissected aneurysms. Not a good thing. I am also being tested for Classical EDS, which is the type I thought I may have all along.
Unfortunately, she doesn’t think that EDS (or one of the other above connective tissue diseases) is my only problem. She was very emphatic on my having something other than just the EDS going on. She mentioned the possibility of another connective tissue disorder, like Alport Syndrome, which is a terrifying kidney disease. I don’t believe I have this one. It doesn’t match up very well. I may also have a mitochondrial disease or a metabolic disorder. This is based on the fact that my CPK levels are often above the normal range (I’ve had 4-5 tests and only one of them had normal levels….barely…) and also because of the blood in my urine. It would be great to have that stuff explained, but it’s terrifying to wrap my mind around another problem. I hate to say it, but a mitochondrial disease would explain a lot of things for me though and I wouldn’t be surprised to be diagnosed with one. I’m intimidated by the idea of it however.
All in all, the appointment revealed some very terrifying possibilities. And the future might not look as pretty or as easy as it once did. But one IMPORTANT thing that happened is I don’t feel like a hypochondriac. Not when her report states that I “have clinical features which are concerning.” I feel so much more validated and that is a HUGE weight lifted off of me. I am certain now that I’m doing the right thing by going to the doctors and doing all the tests. There is a reason for me to be doing this and it’s not all in my head.