I was recently diagnosed (clinically) with a genetic connective tissue disorder. The diagnosis has been great in some ways because it pieces together so many little things from over my life. Things which make perfect sense now.
Other ways not so much. There are lots of yucky things about the diagnosis. I’ve found myself a bit overwhelmed…at times…over the bad stuff.
For example… the doctor who diagnosed me asked what I do for exercise. I told him mostly I walk. It’s one of my favorite things to do. Jeff was with me and laughed (because he hates walking) but chimed in and said, “Yeah, she once walked 38 miles in one day!”
The doctors response? “OK… you shouldn’t walk. You really shouldn’t be walking. You would be much better off doing strength training and yoga…as long as you don’t push it too much. But no walking or running obviously.”
I laughed at him and he simply reiterated. When I had the follow up with my PCP. He had even put it in the notes… with emphasis.
It really hit me kind of hard. I *really* love walking. It’s so good for my mind and when Jeff comes along it’s so good for US. Our talks are always more productive while on a walk.
I don’t want to lose my walks.
Research and online support groups have lead me to lots people with this disorder in wheel chairs…so many of people with this are disabled.
This raises questions in me…am I going to be like this some day in the future? I can’t see it now but I shouldn’t rule it out as a possibility.
The irony is all of this makes me want to be MORE active. It begs me to walk MORE, to hike mountains, to become an athlete. I’m that sort of rebellious soul. I don’t like being told I can’t. I also want to be an example. I want to show others you CAN. But what if they really can’t? And then there is the desire to talk about this disease simply to raise awareness. It took 42 years to get this diagnosis! 42 years! And it was by chance…simple chance…
I was sent to a rheumatologist by my PCP for a consult resulting from a positive ANA and some other (mild to me) symptoms. The thought by both physicians was it was likely Lupus (I thought maybe but doubtful) or Celiac (which I strongly doubted). During the consultation he noticed my elbow hyperextension…then got very excited.
“Can you do that with your knees too? Are you generally flexible like this?”
Jeff laughed and so did I. “She can bend all sorts of weird. She creeps people out.”
“I can show you.”
“No, don’t. It’s not good for you. You have Ehlers-Danlos. Did you know this? Can you touch your thumb to your wrist?” I demonstrated. “Can your touch your toes?” I nodded, yes. “Can you put your palms flat on the floor when you reach down?” Still excited and smiling.
“Yes, I can actually put my palms under my feet. Easily.”
“No, doctor has ever told you this? You definitely have Ehlers-Danlos Syndrome. It’s a genetic disorder. Your mom or dad must have it. And kids, do you have kids? They have a 50% chance of inheriting it.” Then his tone got a little more serious. “Any history of aneurysms in your family? Heart problems?”
We went back and forth a bit. He vacillated between excited and concerned but after ruling out – to his satisfaction – the vascular form of the disease he lightened up and explained there are different types. He believes I likely have the most “benign” form. But it is the cause of my joint pain and arthritis and will cause significantly more problems as I age.
Fast forward a week or so and I get a call from the doctor. All my testing came back. Cleared of Lupus and Celiac. My thyroid numbers were still out of whack so I should follow-up with an endocrinologist (or my PCP), a dermatologist and not walk. If I wanted to follow-up about the Ehlers-Danlos Syndrome I needed to see a geneticist.
Now three weeks until my appointment with the geneticist. I’m working on gathering as much information as I can but sifting through everything that is out there for legitimate information is a challenge. I’m overwhelmed. These individuals are hugely struggling and constantly being dismissed by friends, family and doctors.
There was a conference in Baltimore that ended yesterday. I was tempted to go. Because everything I have read (including texts written by doctors) states its rarity and that doctors generally don’t know much about it. Not surprising considering I saw a dermatologist since I was around five and my symptoms are on record throughout my entire medical history. I have my pediatric records… they read “double jointed” in the observations in multiple records. Nobody picked it up. It seems to me SOMEBODY should have picked it up even if I wasn’t complaining of pain.
Regardless. I am where I am. And I’m going to start here. I don’t want this to become my whole existence there is *much* more to me than any disease. However, it remains a factor in my life and I’ve always considered many of the lifelong symptoms to be part of my identity, mostly in a positive way. It’s difficult to watch that change. People strive to be as flexible as I am naturally. Growing up it was my super power. Yoga classes and places where people struggle I find I can just do things other people can’t.
And the skin manifestations….I have crazy, weird, smooth skin. Always have. I don’t let people touch my skin often and it’s not something I would mention to people (because it feels like odd) but when people have touched it the response has been nearly always remarked upon.
To hear these things that once held feelings of pride in me will actually be troublesome. It kind of sucks.
Hormones. Apparently hormones are a huge issue with EDS folks. Particularly with women. Pregnancies are high risk. Births are often quick. Those that have heard my birth stories know the speed certainly applied….my middle son being exactly one hour and ten minutes from start to finish…and the most painful and frightening of the three. I had convinced myself I wasn’t going to survive (and I’d already been through birth once). I couldn’t explain why but I was just convinced it wasn’t a “normal” birth.
What I’m most struggling with reading about all these individuals who are clearly suffering and I’m trying to make sense of it. I have pain. I do. But it’s minor, seemingly, in comparison. I want to understand the why. I have some theories. The reason is being if I figure out the whys…and if some of my theories hold true I may be able to help some of these more painfully affected individuals.
For now… I’m waiting for my appointment and I just can’t stop walking. I have added swimming to my routine. Jeff and I decided to change gyms. I’m finding the swimming as satisfying as the walking in many ways yet I’d prefer to do both. Strength training is going to be tricky. I felt my shoulder become *more* painful as a result. I think it will take some tweaking to get the necessary benefits and require alternatives to traditional methods. I’m hopeful. I’ll be just fine.
And look here is the dorky video of me walking that 38 miles… I actually did it twice (down in Florida too!).
I realize I didn’t mention much about my family and their individual diagnostic status’ both because I am the only one, thus far, to be diagnosed and I don’t want to share medical information without their expressed permission.