Yup. I’m convinced I’m a unicorn.
In September 2017 I had my 2 year post Carotid Artery Dissection (CAD) follow up with my interventional radiologist. He broke up with me that day. He literally said, “We can’t see each other anymore.” I cried a little out of sadness but really was mostly out of pure JOY. My body had healed itself and I was longer in need of his services. I was given the all clear to get off baby aspirin and start exercising again (with some modifications of course). After losing over 140lbs I was ready to tone my flabby bod!
I was feeling so amazing that I joined a gym (which is basically the second biggest commitment of my life next to marriage!). I went 5 times when it happened. A moment that I never saw coming. November 27th, 2017, almost 2 years to the day of my first CAD I had identical symptoms 20 minutes into my workout. First the ocular migraine, an hour later a dull headache that wouldn’t quit. I waited things out thinking there was no way this could be happening again. Carotid Artery Dissections are rare, a second one? Even more so.
The next day after a long discussion with myself about how ridiculous I was being and noticing that my Horner’s Syndrome had returned I drove myself to the ER. A few hours and a CT scan later I was diagnosed with a second CAD but this time it was on the opposite side.
I was hospitalized for 6 days. I was determined not to let it be the 19 days it was last time. This time I was better educated about blood thinners and how my diet affected the medications. Being away from my family again was tough but I knew everything was going to be OK in the end. Having a prior experience really helped me mentally get through it and stay positive. I was worried about the kids and how they’d react when they heard I was back in the hospital but they handled it well. I had lots of visitors (including #hospitalbff Amy that I met the first time this happened!).
I had some issues with roommates again, rooming with a very sick older person is never easy. I felt really bad for poor Arlene! My headache was excruciating and having a roommate that is hard of hearing is never a good combo. I eventually got moved to another room with a better match. Praise God!
When I showed up in my interventional radiologist’s office the following week he was in utter disbelief (as was I!) that I had a second CAD. I was his first repeat CAD patient (lucky me!). He assured me that the exercise I had been doing was perfectly fine for a 2 year post CAD patient considering my age and health status. This is when I knew that I was special. I had done a little research about genetics playing a part in what I was experiencing and he agreed that it was time to get some answers.
I was immediately referred to a geneticist at University of Michigan. It’s not as easy as calling and getting an appointment either. You have to have a referral with pages and pages of documents, family history, medical records and test results for them to even consider you. You basically have to be something super interesting, like a unicorn.
When I received a call a week later that I had been chosen to receive genetic testing I was ecstatic. Finally, an opportunity to get the answers I had been looking for! I spent hours filling out family genetic history paperwork and bugging my mom every day for more information. I went to the appointment, we chatted a bit about the testing process and they took a vial of blood. The sample was then sent off to California and the 2-3 week wait for results began.
So yesterday was day 20 (not that I was counting!) and I got the call. 24 out of 25 of the connective tissue related genes were negative (normal. Great news!). The one that was abnormal was inconclusive. The COL5A2 gene is associated with Classical Ehlers Danlos Syndrome (EDS). There are many different types of EDS including a vascular type (the worst case scenario) and I had been totally convinced this was what I had. It would explain both of my CADs.
All types of EDS can cause connective tissue fragility. With a badly-constructed or processed connective tissue, some or all of the tissue in the EDS-affected body can be pulled beyond normal limits which causes damage. Connective tissue can be found almost anywhere, in skin, muscles, tendons and ligaments, blood vessels, ARTERIES, organs, gums, eyes etc.
Turns out I do not have the vascular type (that’s one of the 24 that were negative) but I could have the classical type. An inconclusive result means there is something different about that gene but they aren’t really sure what it is yet. I’m headed back to U of M for a physical exam where they were check me out for physical attributes of EDS to maybe get a more definitive answer. I’m also aware that there is a skin biopsy procedure that can help diagnose EDS as well. There is no cure for EDS, just more prevention.
I’m glad to finally be getting some answers and am blessed to not had more abnormal genes but frustrated that nothing is definitive. Time will tell, whether it’s more testing or genetic research that needs to be done. I’m still convinced that I’m a unicorn though. Shiny, colorful and rare.