Published: 05/03/2019

Musculocontractural EDS: the diagnosis that put a smile on my face

by Allison B.

As a high school student who is active in marching band, Girl Scouts, and martial arts, living with musculocontractural EDS (mcEDS) is hard, and at times very frustrating. I push myself to do the things I want and need to do while in school. In November of 2018, a month before my 16th birthday, my genetic testing came back saying that I have mcEDS.

I was born with both clubbed hands and feet. I have hand and feet deformities in which my fingers are hypermobile and my feet have an extreme arch, which puts a lot of strain on the balls of my feet and my heels. My whole life, I have had stomach issues. I went to my family doctor many times to see what was wrong and they always said that it was just in my head. I have an intolerance to gluten, lactose, corn syrup, and many other things that limit my diet. The fact that we never knew this for many years is the reason why I missed so much school and so many fun events that I was supposed to attend. This is all caused by my mcEDS.

In the summer of 2017, I started my first year of marching band as a freshman. I ended up with warts on my feet, so I went to my local foot doctor. He scraped them off and pushed and pulled on my feet looking at the flexibility in my ankles. Eventually, he looked up at me and said, “I think you have some form of Ehlers-Danlos syndrome.” He then referred me to a rheumatologist.

That doctor looked at my scars that I have accumulated and how the scar tissue is very stretchy. He also looked at my hands and my flexibility and immediately said, “Yes, I bet you have hypermobile EDS,” and then I was sent to doctors for my heart and kidneys as well as physical and occupational therapy. I was also finally sent to a geneticist.

The earliest appointment for my geneticist was August…of 2019. My mom fought hard to get me in sooner because I was in constant pain and was dislocating my shoulder when I sneezed—we didn’t know why. So, between the beginning of the second semester and the Memorial Day parade in which I was to march with the band and play “Taps”, we got back braces from my occupational therapists and orthotics for my feet. We also bought compression sleeves a knee brace, and a wrist brace to wear at night.

When my sophomore year started this year, my pain was increasing during band. At my band competitions this year, I was sick during two of them, and at another I nearly blacked out when we marched off the field. My friend helped me get my uniform off and basically carried me back while one of the girls in front ran up to get one of my directors. We found out that POTS (postural orthostatic tachycardia syndrome) comes with my mcEDS and that is what makes me so dizzy in heat and when I stand up.

In 2018, I finally got genetic testing. Finally, two months later’ it was confirmed: I have musculocontractural EDS. Normally, I read the stories where people were sad to hear this at first, but not me. As my geneticist was telling me all of this, I was sitting there with the biggest smile on my face. I was glad to figure out what was wrong with me and I accepted it. I’m glad I’m different, and that I can make a difference to help people in the future who have mcEDS.

It’s been a long and hard journey, and it’s going to get harder, but I have to push through it. I work full-time in the summer and I take extra breaks when needed. At band rehearsals when I feel like I need to sit because my joints in my legs hurt really bad, I sit on the side, watch, and help people with their marching. I’m currently working hard to get my gold award for Girl Scouts. I’m building things, and I take breaks to get more water for my POTS. In my martial arts class I do not spar to keep me from getting hurt. Going to the dentist is very painful, especially when I have to get a cavity filled, because local anesthesia doesn’t work very well. It took two full doses of anesthesia to numb my foot for my surgery, and I still felt some things.

There’s still a lot to learn about mcEDS and I’m excited to learn along the way. Fight long and hard, don’t look back, keep moving forward towards your dreams, and don’t let anything stop you!



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