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My Ehlers Danlos Diagnosis & Its Comorbidities


From about the time I was 2 years old I would dislocate my hip and would cry that my back hurt. I started dancing at 3 years old and was very flexible and stood out as a good little dancer. By the time I was 10 I was dislocating most of my joints and was in so much pain that I could no longer dance and I would cry myself to sleep at night because of the pain. Doctor after doctor kept telling me that it was growing pains and that I would grow out of it. I started to feel crazy. At 11 my pediatrician realized that I had scoliosis that got bad quick. When they did the MRI on my back they found that I had a big cyst in my spinal chord and some other bone problems. Many days I could barely walk and my back would pinch up so bad. My neurosurgeon sent me to genetics and he thought that I had Marfan syndrome a connective tissue disorder that has similarities to Ehlers Danlos Syndrome.

When my testing came back I learned that I had a couple EDS genes and a gene that is related to vascular connective tissue disorders, but they are not sure exactly what disorder it goes to. So after going to a cardiologist they confirmed that my heart had already been compromised. My heart's aorta is starting to dissect, but it is very mild so the doctors will watch it very close. I knew in my heart that there was something wrong with me, but I was not prepared for all the information that I was being given. I found myself googling life expectancy of Vascular EDS, Marfan, MYLK gene, and syringomyelia. I knew I was no longer crazy, but this is not what I wanted either. I looked good on the outside and everyone kept telling me that it did not look like anything was wrong with me. I had answers but I did not understand them and I felt alone and like no one understood me. I knew then that I wanted other kids to know that I am here for them and that they are not alone.

I was diagnosed in October 2020 and I continue to learn about the complications of EDS and this lovely MYLK gene. On top of all my spine problems I also suffer from MCAS that causes me to have allergic reactions all the time for no real reason. They have put me on the max medicines to stop my allergic reactions and it still is not working. So now they want to put me on a real strong medicine that they infuse in both arms every month. Right now I am not sure that I am ready to do this, but if my histamine keeps going up even on my medicine then I do not have a choice. Right now I still break out in hives, rashes, and my body feels like it is on fire. However, the medicine is keeping me from going into shock. So, I am still holding off on the next medicine. I also have a problem called POTS that causes me to faint, sometimes without notice. I have stomach problems that they are trying to figure out where I vomit for no reason and have a lot of stomach pain. Luckily my stomach looks good so they said it could be my MCAS, POTS, or just my IBS.

I just learned last week that many of my joints in my hands and feet are coming out of place without me even noticing and I can not even control it anymore. So I am being sent to a special doctor that will try to make devices that will hold them in place. My pinky has dislocated so many times that my tendon came out of the track and I can not get it back in. The pain has been horrible, but I thought that I had just hit my hand and had a little bruised knot. I bruise and pop blood vessels all the time so I really do not pay much attention to the different pains that I get. So hopefully this doctor can find a way to get my tendon to go back where it belongs. I work hard to have a normal happy life and honestly......... for the most part I DO :) Having people learn about Ehlers Danlos Syndrome and its complications is very important to me, because I do not want others to feel overlooked, like I have by strangers. I want people to know that when they hear that someone has EDS that they do not need to question why they have a handicap sticker or service dog. Everyone needs to know that just because we look normal does not mean that we do not suffer from a life threatening disability.

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