Published: 28/11/2019

Discovering my own diagnosis

I’m Ashley, 34 years old from Canada and living with hEDS, PoTS, gastroparesis, mast cell, and all the lovely things that come with EDS. My story is lifelong and has been physically and mentally draining.

As a child I had many EDS traits that caused me problems, but I did not know at the time what was wrong. From age 7 I had constant migraines with vomiting, terrible joint pains, bruising, and was generally unwell and kept home from school at least one day a week. I was never able to hold a pencil in school which got me in trouble with teachers.

In my early 20’s a large amount of stress seemed to trigger everything so bad that I had to quit my job as a hairstylist. I assumed that everyone had pain all over like me, but this wasn’t the case. I would have to crawl up the stairs or have my dad carry me to the washroom as my joints were in excruciating pain. I was waking up every night with subluxed knees, back, hips etc. My bloodwork at the time was showing elevated inflammation so a rheumatologist tried me on many awful medications, including prednisone and immunosuppresants. They told me I had lupus/vasculitis/arthritis – which I did not!. I have a livedo reticularis skin mottling all over so they assumed I had something autoimmune.

I was sent to a foot doctor to correct my flat feet and was told that all my joints were hypermobile. They told me to inform my doctors of this. By some fate I could not sleep one night so turned on tv and watched ‘Mystery Diagnosis’. To my surprise a women with hypermobile joints was on the show and diagnosed with EDS. After years of searching for answers I knew this is exactly what i had! I presented it to my doctors who of course thought it was impossible and dismissed me once again.

Enough was enough: we had to pay out of pocket and head to the Mayo Clinic in Rochester, with pictures of severe bruising and joints dislocating in hand. The first doctor I saw recognized the bruising, loose joints, very loose and stretchy skin, scars, and sent me to a geneticist. I was diagnosed within a few days with hypermobile EDS (hEDS) with classic features. This was the most gratifying moment of my life! To have them believe me changed everything. I was then referred for skin biopsies to a wonderful geneticist here in Toronto who confirmed again the diagnosis.

Finally in 2011, I knew what was going on. However, even after being formally diagnosed, I was still being treated like a fraud by family and doctors. Doctors would constantly ask if I made this up, or had just Googled it. Family members would say I was faking it. Even with two geneticists notes I kept with me at appointments.

Luckily by my 30s my joints have not gotten severely worse, but I am unable to work due to the pain, PoTS, and gastroparesis. My muscles are very weak everywhere, even with daily excercise. I have weakness of the muscles from my throat to oesophagus, and all the way to the other end. I am very fortunate to have an amazing GP who has taken care of every weekly problem that pops up, and I am currently in a program for PoTS and am trying to stay strong despite the daily struggles.

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