Updated: Feb 17, 2021
A year ago I was 2 days into what would become a 16 day hospital stay. I’d started having severe headaches on one side of my head and they couldn't figure out why. Every scan came back normal, none of the migraine meds had any impact, and they couldn’t get my pain under control.
Sometime during those 16 days, my doctor asked if I’d ever heard of Ehlers-Danlos Syndrome, a connective tissue related genetic disorder. I hadn’t. He’d been doing some research, looking at all the various symptoms I’ve had over the last several years, paired with this new headache issue, and came across Ehlers-Danlos Syndrome (EDS).
I had my doubts. How, after decades of issues, could no one have brought it up before?
I was leaning heavily toward lupus. I still am. But, what I’d come to find out - people with EDS often have additional health issues - like autoimmune diseases.
When I called to schedule my appointment with the only geneticist in the state, it was a couple weeks into the Coronavirus pandemic and everything was chaos.
“Dr. Francomano’s next opening is February 9th”
“I’m sorry, you mean February 9th, 2021?”
I thought to myself, “Are we even all going to be alive by then? Is 2021 even going to be a thing?”
I took the appointment. 10 months I’d be waiting. She doesn’t have a waitlist, so the best I could do was call periodically to see if she had any earlier openings. She never did.
During those 10 months I started researching Dr. Francomano. I learned from friends in the EDS community that she was highly sought after. She’d only recently moved to Indianapolis to start an EDS clinic. So, as it turned out, I got SUPER lucky to even get to see her.
During the past 10 months, things have continued to deteriorate. The only thing that kept my headaches in check was high doses of prednisone. Meanwhile, I’d started getting horrible chest pain, a rubbing sound had taken up residence in my chest and the side effects of the steroids were steadily becoming more than I could bear.
After getting off the steroids, things got even worse. On the upside, we’d found a medication that helped manage my headaches and wasn’t steroids (amitriptyline for the win). On the downside, the steroids kept a lot in check. The amount of widespread pain I have now is intense. It’s relentless.
So, when my appointment date finally arrived, I was excited, but cautiously so. I’d spent those 10 months wavering between “I totally fit the mold for EDS,” and “No… I don’t think this is it.”
I was afraid to hope.
At one point, I’d mentioned to my neurologist this suspicion of EDS to which she responded, “I really don’t think that’s it.” It pissed me off and added to my doubt.
Let me fast forward a bit and get to the diagnosis.
My appointment at Dr. Francomano’s office was 4 hours long. I saw multiple people who did various tests and exams, asked a lot of questions and took the time to fully explain what they were doing, why they were doing it and what they were discovering.
By the end of the appointment the conclusion was that as long as my test for Sticklers Syndrome comes back negative, she’s confident I have Hyper-mobile EDS - also known as hEDS.
She also suspects I have something called tethered cord syndrome. She thinks it’s likely I’m also dealing with an autoimmune disease. And, without my prompting, she ordered an upright MRI to further investigate my headaches.
I’ve been trying to get my doctors to order an upright MRI for MONTHS. My PCP was trying to get a hold of someone about it, and never managed to make it happen. My neurologist thought it was unnecessary, regardless of all the material I’ve read saying how easy certain things are to miss if you don’t have an upright MRI.
There were so many things that occurred during my appointment with Dr. Francomano that gave me immense amounts of validation, not only in terms of all the times what I said was written off by other doctors, but even dating back to childhood, when I was continuously called a hypochondriac.
I will never, a day in my life, call anyone a hypochondriac ever again.
I’ll preface what I’m about to say by saying, I don’t blame my family for not knowing what to do with me and my seemingly constant stream of complaints as a child/teen.
There were many issues, and to the average person, they all seemed unrelated to one another. There were my horrible stomach aches, excruciating knee pain, frequent injuries (like rolled ankles and "strained muscles"), random aches and pains that were always written off as “growing pains.”
I was a full-fledged adult before I realized growing wasn’t supposed to be painful.
No one in my immediate family had any physical challenges. Mental health challenges run rampant on both sides of my family, but physical? No. Never that. We were of “strong stock.” “Suck it up, kid, you’re fine.” “Stop being a hypochondriac or you’re going to end up like [insert name of family member no one ever wanted to end up like].”
My physical pain was not taken seriously, and was made even worse by the fact that my doctors couldn’t come to any conclusions as to why I had such severe abdominal pain, or why my knees hurt so bad, why my hips hurt so severely, or how I could possibly manage to severely strain a muscle by slipping going UP the stairs.
Their lack of knowledge and lack of solutions meant I must be making mountains out of mole hills and needed to be stronger mentally.
Even though Ehlers-Danlos Syndrome has been discussed since the beginning of the 19th century, it’s rare, and very few doctors know enough about it to ever consider that some of their more perplexing patients may have it.
With the advancement of genetic testing, EDS is becoming more widely known about both inside the medical community and out. Even still, much like endometriosis (which I also have), the majority of doctors don’t know enough about it to be helpful. So, we count on specialists and the open minded doctors who refer us to them (thanks for that Dr. Mooibroek).
Receiving a hEDS diagnosis is something I’m having a hard time wrapping my mind around. This isn’t surprising when you’re used to being a medical mystery. I’m so used to doctors scratching their heads and not knowing what to do with me, that to finally have someone who knows what they’re doing give me an answer, feels groundbreaking.
I know this isn’t the end of the diagnostic road. There’s more going on, and more work to be done, but this is such a massive step in the right direction. It feels relieving, but more than that, it feels validating as all hell.
It’s like, I need to take a moment to revisit young Ronni and tell her she’s not a hypochondriac. I need her to know she can trust her pain, it’s real. I need her to know she can trust herself. She’s not crazy. She’s not an attention seeker (I mean, any more than any other astrological Leo). She’s not making it all up. It’s not happening because she doesn’t take good enough care of herself. It’s not happening because of anything that is her fault.
I spent decades gaslighting myself, medically speaking. Years and years trying to talk myself out of the pain I was in. Years not trusting myself because no one could figure out what was the matter. Years thinking it was normal to live in any amount of physical pain. Years of pushing myself hard to just “suck it up” and not let it get in the way of achieving my goals.
It was fucking exhausting.
I need to tell her I’m sorry. I’m sorry for what she’s had to go through and for how often it left her feeling isolated and alone.
I allowed pain to be my constant companion and didn’t advocate enough for myself, or have anyone else advocating for me either. I was alone in my pain.
I thought admitting it’s all too much to handle sometimes made me weak, or meant I was allowing myself to be defeated by it all - like I wasn’t made from the same “strong stock” the rest of my family members were.
I know now that none of it is true. I know I’m not weak, and in fact, am probably one of the absolute strongest members of my family - mentally and emotionally. I know owning my diagnoses, talking about them, knowing my physical limits and honoring them, doesn’t mean I’m letting my diagnoses defeat me or take the wheel. It means I know how to listen to my body. It means I know when I can and cannot do certain things (though sometimes I still push myself too far).
I’ve known all along I wasn’t crazy, but I spent way too much time doubting myself.
The road to proper diagnoses is often long, with a lot of twists and turns, and a lot well-meaning people who give bad directions.
Some days… Many days, it’s utterly exhausting. But we have to keep going. We have to demand better from our healthcare providers. We have to demand better from the people around us.
I know there’s still a ways to go, but holy shit this was such a win. Is it ideal to find out you have a genetic mutation you can’t fix or cure and will progressively get worse? Of course not. But having the proof, having a community behind you who knows exactly what you’re going through… it’s a massive fucking win.