Diagnosis was a process that nobody should ever have to go through

Posted June 6, 2019

By Rachel O.

My journey to diagnosis was not an easy one. As a child, I was always in pain. Walking hurt. Running hurt. Sitting hurt. Standing hurt. Pretty much anything you can think of hurt. I never really knew why, I just knew that no matter what I did the pain didn’t go away. The doctors told my mother that it was just growing pains and that I would be fine. My mother spent most of her life in pain and didn’t know any differently because it was normal to her, so she did what any mother would do: she believed the doctors.

I fell and sprained my ankles so many times that my parents were nervous to take me to the emergency room anymore because my doctor was beginning to suspect abuse. I had a huge assortment of splints, air casts, ace wraps, and crutches for a child. I had misshapen feet and had to wear straight laced shoes as an infant and toddler. I had severe chest pain occasionally, and you could often hear me cry out, “Mommy my heart hurts!” I had these horrible, seemingly random allergies that changed frequently. I had more surgeries than I can even keep track of anymore, but no doctor ever picked up on the fact that there was probably some underlying condition causing all of these issues and that a thorough medical investigation was needed.

School was hard. I had to do credit appeals every semester in high school because I had too many absences. I was exhausted all the time, and rarely did homework because as soon as I got home I’d fall asleep. I just never felt well, but the doctors always said I was fine. I spent years trying to figure out what was wrong with my body, but my doctors and my parents just kept telling me I was fine and to stop being a hypochondriac.

College was worse. My apartment was always a disgusting mess because I could never find the energy to clean it. I relied way too much on fast food because grocery shopping and cooking were out of the question most days. I struggled to even get to class some days, and had to repeat several courses due to excessive absences. Although I loved my school, the campus was not very accessible, and that made getting around on my bad days that much harder. I was on my own, away from my family, and was quickly realizing that taking care of myself was almost impossible.

It wasn’t until I was 28 years old and I stumbled across YouTuber Annie Elainey talking about how she was diagnosed with EDS that I realized there was a condition out there that would explain everything that had ever been wrong with my health. As I listened to her share her story, I broke down crying. She could have easily been talking about my life.

I spent weeks researching Ehlers-Danlos syndrome online, but within the first 24 hours I was positive that EDS and its common comorbidities were the cause of the overwhelming majority of my health problems. I also had a strong feeling that it was causing most of my mother and sisters’ problems as well. I called my mother and told her about it, and she told me to stop self-diagnosing. I don’t think she really started to believe me until I ran her genetic data from Family Tree DNA through Livewello and all of these genes that can cause EDS showed mutations (this is not diagnostic by any means, but just indicated that EDS might be a possibility; SNPs are not the same as the genetic test you would get from a doctor, and are nowhere nearly as accurate). Then she started to research as well, and realized I might be on to something.

I started my journey to diagnosis by bringing up my concerns with my primary care physician. He had no idea what EDS was and brushed me off. On the recommendation of some girls in a local EDS group, I went to see a Rheumatologist. She didn’t even want to discuss EDS, but did help me rule out all of the rheumatic diseases that could be causing some of my issues. She also diagnosed me with Hashimoto’s thyroiditis, dermatographia, and hypermobility.

I finally decided to go ahead and see a geneticist. I was so nervous (and was worried about the cost of testing), but I’m so glad I did. After looking over all the tests and documentation I brought, as well as my personal and family medical history, he immediately diagnosed me with EDS. We are still waiting on the results of my whole exome sequencing (which my insurance paid for!), but he suspects I have myopathic EDS because the majority of my dislocations happen in my distal joints. He did say that even if my testing does not show myopathic (or any other form of) EDS, that he is convinced I have EDS and would then diagnose me with the hypermobile type (which there is not currently a known genetic marker for). He also said according to my family medical history, my mother and at least one of my sisters more than likely have EDS as well.

While my journey to diagnosis may not have been as lengthy as some other Zebras, it was still a process that nobody should ever have to go through. I do not blame my parents for how long it took me to finally find my diagnosis. Neither one of them had even heard of EDS before, and there is no way they could have possibly known what was wrong. After years of hearing doctors tell me I was fine, of course they did not believe me when I first mentioned EDS. If I were in their place, I wouldn’t have believed me either. This is why I feel it’s so important for me to share my story. I hope to spread awareness for this condition so that young children with EDS can be diagnosed earlier and will not have to spend a third of their lives trying to figure out what is wrong. The more people who know about EDS, the fewer Zebras there will be out there struggling to get by without their diagnosis.


Disclaimer: Each story submitted to The Ehlers-Danlos Society for this #myEDS/#myHSD anthology is published "as-is," with only minimal edits for spelling, grammar, and typographical mistakes. Each profile reflects the personal views, experiences and opinions of the individual authors-and, thus does not necessarily represent the views and/or endorsements, individually or collectively, of The Ehlers-Danlos Society, its leadership, staff, boards, or communities. We can also not confirm any medical claims or comments in the story.

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