So buckle up, hold onto your hats, the show is about to start. And it goes a little something like this...
Dr. You are overly flexible and hypermobile, did you know that? In all of your joints.
Me: But I can't do a split?!?! [confused]
Dr. There is NO such thing as double jointed, that thing you do with your fingers is actually called a swan neck deformity.
Me: Deformed?
Dr. The way your hands splay out like that, is actually called the flying bird sign.
Me: What is this, birds, swans?
Dr. Can you touch your thumb to your forarm? There is no name for that one, sorry.
Me: Yes???
So begins the fall down the rabbit hole. All of these strange "nothings" I had had my entire life, suddenly became big somethings.
Dr. - You have Ehlers - Danlos Sndryome
- It is a genetic condition, you have had this your entire life
- It is a connective tissue disorder, your body makes defective collagen
- The "glue" that holds your body together does not work
- You have all of these orthopedic injuries, not because you did anything, it's what your body didn't do
- Connective tissue is everywhere - skin, muscles, ligaments - so in addition to all your joint problems, it affects the valves in your heart, your eyes, your skin, your teeth - and did I mention every single one of your joints?
- The TMJ you have? It's from EDS. The condromalcia and fat pad impingement in your kneee? EDS again! The herniated disc and degenerative disc disease in your spine? EDS. That heart murmur? It's from EDS too, but actually you have Mitral Valve Prolapse. Your "hip popping?" That is also EDS, and it's less popping and more subluxating [ fancy word for partial dislocation].
- Your skin is thin, fragile and bruises easily, a lot like white tissue paper
- Your skin is thin, fragile and bruises easily, a lot like white tissue paper
- It is passed on in a autosomal dominent manner, which means you are not a carrier, and only you need to have the (defective) gene to pass it on. All of your children have a 50% chance of having EDS. Have you thought about having kids yet?
- Did I forgot to mention, there is no cure...
My head is spinning, the tears are running, thoughts are racing, anger is mounting...FINALLY we know. Finally, the question marks start to disappear. Cancer, Check. Lyme Disease, Check. Weird Genetic Disorder, Check. The trifecta of strange, awful and bad luck is finally complete.
The Dr writes out the geneticist, cardiologist, dermatologist and opthamologist who "can help me." Was I surprised? Well yes, a genetic connective tissue disorder, at 29? I would have been LESS surprised to hear he BIG "C" again. But here we are. And here I am: The real life Elastigirl, I'm still waiting for the awesome costume and cape. Maybe being a super hero isn't all bad....
Until next time....
If you want to learn MORE about Ehlers- Danlos: http://www.ednf.org/
Jeeeeeeez Kate! WTF??? You have been through hell and I can't even begin to imagine what you have gone through! What is weird is...you have just described my fingers, my touching my thumb to my wrist, my hips, my knees, my TMJ, .... shit! Are migraines and killer heel spurs part of this package too?? I always thought my fingers could bend three different ways because I was just cool. You have just had quite enough though. I hope with all of my heart your body can find a way to heal. Sending you hugs via internet!
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