Living with a Genetic disABILITY

Hearing Elmo always welcomes guest writers. This post is submitted anonymously on behalf of one of my many students who live with disAbility.

I learned at a fairly young age that people treat you differently when they know that you have a disability or chronic illness. I have struggled with health issues from a very young age. I didn’t know why I was sick, the doctors didn’t know what was wrong with me for years.

I have had joint and stomach issues pretty much my whole life. Doctors would blame it on my level of activity or my diet. That became a commonly heard thing for me, it was hard to change these factors because I would get injured so easily and my stomach would only tolerate certain foods.

After years of dealing with this seemingly never-ending cycle of health issues and doctor’s appointments, one of my doctors suggested seeing a geneticist. The original doctor suspected that I had Ehlers Danlos Syndrome or some other type of connective tissue disorder.

I saw the geneticist and he did an examination and asked me some questions. I fit the symptoms and had enough markers to be diagnosed. There was just one issue, it takes years of building the history to get the official diagnosis. It would end up taking three years and two shoulder surgeries to get my official EDS diagnosis. Sprinkled in those three years were countless support braces for my knees, hips, shoulders, back, and other things. I also had to have my gallbladder removed because it had been reduced to only 5-10% functioning, having it removed helped some of my stomach problems. 

One of the things that EDS does is makes it so my body doesn’t produce enough collagen, which leads to laxity in the joints, skin, and other tissues. My shoulders didn’t have enough collagen to support them, I have had issues with them for a while, and eventually, they got so loose that they couldn’t stay in the socket. I had my shoulders fixed a year apart from each other. Unfortunately, I will have to have them redone every 3-7 years depending on how fast they deteriorate.

When I got my official diagnosis I was relieved because I finally had a name to put to all of the stuff that was happening, I finally knew what was happening to me. Some people in my life weren’t as happy with me having a diagnosis that there is no known cure for. It felt like they would rather just hope that I magically wake up one day and I am all better versus confronting the fact that this will never go away. It makes sense to some degree that they feel that way, but when you are a teenager trying to explain the newly diagnosed syndrome that makes you have mobility and functioning issues, you just want people to feel the same feelings that you do.

I have been excluded from things for years because other people thought I wouldn’t be feeling well enough to come, I just got used to it at some point. Kids in high school were mean to me before I had my diagnosis because they thought I was faking it, now it seems like they take pity on me at times. I don’t want pity, I want to be treated like everyone else and I want to have a normal, functioning body.

Author: Anonymous – Anne Arundel Community College student

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