I’m currently flying back from my quick trip to Baltimore from Seattle, the entirity of the experience striking me as somewhat ironic. I was there visiting Dr. Clair Francomano, head of genetics at GBMC and one of the most renowned specialists in connective tissue disease. The ironic part is my level of exhaustion and symptom flare-up. And, then there’s some feelings I haven’t processed I’ll try and work out here as time goes on, so maybe other people like me have something to compare to.
I was diagnosed with Ehlers-Danlos Syndrome back in 2014. That year things had come to a head medically and mentally due to the emotional exhaustion of pushing through pain and ongoing dysautonomia. I was grateful to know what was going on, and at the same time, being the way I am, I had an extremely hard time accepting a diagnosis made clinically. Yes, the criteria used are based on objective data. And, no, finding the genetic marker would not change management of the conditions. Still, it was a condition with no cure, little understanding in the medical community, and a heavy reliance on extreme adaptability to a body that doesn’t behave normally and hard work.
Many people I’ve met with EDS work hard to maintain. Sometimes that hard work doesn’t look like much to an outside observer. We have to be the educators with doctors not familiar with EDS and its complications. We do the research to learn how to protect joints as they one by one succumb to the effects of instability. It’s an emotional roller-coaster. It’s a juggling act of knowing when to fight for something and when to let it be. And, it’s the learning process in chronic illness of living while being aware of how to take care of yourself without becoming the illness. Without letting it make your world small. I feel like I have repeatedly had to bash out the walls that try to close in.
The entire thing is very difficult. And, it can feel very lonely. All of this amounts to many of us reaching out to support groups where we can safely talk without fear of judgment.
For me, in the very places I was getting support is where I started to really deny the illness. A surge in awareness in the last few years led to a surge in diagnosis. It seemed like EDS was everywhere, but really, it was just everywhere for people like myself because we are actively coping with it. When I would see people who seemed minimally effected, I would doubt my diagnosis thinking “Everyone is getting diagnosed with this thing who’s hypermobile.” Hypermobility is not great for the joints, but it is not necessarily to the degree an individual with connective tissue issues is effected systemically.
When I would see individuals with a chiari malformation or dysautonomia causing a heart rate of 200 bpm, I would say the same thing. “I’m fine. Everything I feel must be normal, and I’ve been misdiagnosed.” There’s a lot of awesome denial involved here.
So, I basically began to ignore the diagnosis, though my symptoms have somewhat gotten worse. I have to add though, that even though my symptoms have gotten worse, I do not feel worse. Your ability to cope does get better. Hopefully I will continue to feel better overall.
Then, at the end of last year I got the call that there was an opening to see this amazing doctor, and I prepared myself to be told that I did not have EDS, especially since they did a huge thing this year and completely revised the criteria based on new data. It is much ‘stricter.’ And, many people with EDS (and some who may be suffering from another malady they are desperate to find an answer for) were worried they would “lose their diagnosis.” I was not so worried about this because of my relationship with the diagnosis itself. I understand it’s a tool to guide treatment. Though, I understand the fear very well from when I wanted so very much to know what was going on and had nowhere to turn. Doctors would tell me my dysautonomia caused by stretchy blood vessels was anxiety. They would say m pain was depression. I tried to believe them, because they are doctors, but nothing I did changed what I was experiencing. Though mental wellness definitely effects how you experience these difficulties in my opinion.
Is this a way more medical professionals can think about these things? Chronic pain often causes depression and anxiety. A heart that beats with insufficient blood flow fatigues. Blood pressure swinging causes a myriad of mental symptoms. Why is it judgment instead of treatment? Why is our culture so punishing of things not within our control? That’s how it seems to me.
However, many people who have experienced chronic illness themselves or dealt with the effects of it in their personal experiences understand more clearly. Are kinder in general.
Just thoughts I want to share if you’re struggling with judgment.
So, I was not so worried about “losing the diagnosis” as others put it, but my reasons are in part because I’ve been avoiding doctors in general. Were I to need help with something urgently and if EDS were the cause, I’d be less likely to get timely help I imagine without the right diagnosis. So, yea, that’s where a lot of people become fearful after dealing with something for so long that was rare and not easy to figure out in the first place. Would you want to start that process all over? You may know it’s logical to do so if the diagnosis doesn’t seem right. But, you probably would be upset. You know?
So, at the appointment, they had my records. It was 2 hours long and she did a battery of measurements in joints and neurological exams. I was mostly quiet and answered her questions and just let her do her thing. I heard some surprising observations… things about my face shape even. They remarked on a thing with my rib cage which is seen in Marfans, a more well-known connective tissue disease. Blue sclera, things with my hands that I didn’t know about like having the “wrist sign” and “thumb sign.” Mildly stretchy skin, excessive bruising, and a high narrow palate. An arm span greater than my height. In fact, by the end of it I was convinced I had Marfans even though I’m short! (Think Michael Phelps who is speculated to have Marfans).
Long story short, it’s Ehlers-Danlos Syndrome. Even my neurological symptoms are being caused by complications from the condition in her opinion. Going forward, I decided not to have imaging on my neck though she suspects it’s unstable and may be causing some of the neurological stuff. I wouldn’t get surgery unless it was much worse, and so I do not see the point. Maybe I’ll change my mind and want to know. Well see..
A lot of it is wait and see, and I’m okay with this. I wish I didn’t feel so tired. I wish I didn’t have to work so hard. But, it’s really okay because it’s the way it is, and we adapt as human beings. I have to be okay with all of it, and in many ways I’m lucky I’m as ‘okay’ as I am.
So, I wanted to write my reaction to all of it and what happened at the appointment. I went on some tangents, but I think they’re related to all this and how we deal with uncertainty in life and human nature. Overall, I’m grateful to have such an amazing doctor I got to see on such a confusing topic as genetics. She also happens to by an amazingly kind and brilliant woman.
Until next time!
*Unedited on a plane. Please excuse my typos! ☺️