Arthrochalasia EDS: my diagnosis finally makes sense

Posted February 18, 2019

by Natasha B.

Thinking back to some of my earliest visits to the ER, I remember overhearing the doctors telling my mom, “she’ll be fine, she’s just having growing pains.” They said this after many years of painful nights, waking with pain, crying in agony. Yea, sure. I’ll be fine.

My 4th-grade class actually believed I was made of rubber!

In my twenties, I finally decided to get help for my feet, which were at the time, the worst problem for me. I wore a Browne splint for clubbed feet as a toddler, so foot issues are nothing new for me. Over the years I had eight hammer toes, difficulty walking, and agonizing daily pain. During the exam the doctors could tell by my rubber band toes and soft doughy skin there was something more to this. Like the sideshow freak doctors always saw me as, more doctors were called into the room, and all my freakiness was put on display.

I was eventually sent to a University to be tested for Marfan’s. I am literally laughing with tears in my eyes right now. That doctor shot that down the minute he saw me. Unfortunately, before I could get in to see him, I had surgery on eight of my toes. He diagnosed me on physical exam with EDS at that time and told me I should have never had my foot surgery. He told me my toes would all deform again. Boy, was he correct.

Thirteen years later, I have now had a full-sequence gene panel with a confirmed COL1A2 mutation: arthrochalasia Ehlers-Danlos syndrome (aEDS).

It makes sense.  Years of body pain, agonizing at times. The unnatural flexibility, easy bruising, skin that tears easily and doesn’t heal properly, early onset arthritis, and mitral valve prolapse.

Finally finding the exact diagnosis was a very emotional day. I was expecting hypermobile EDS, so finding out it was aEDS was scary. I had never heard of it.

Every day is a learning experience. I have to remember to stay strong. It could be worse; someone out there actually has it worse. So, in an odd way, I do consider myself lucky.

 

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