Diagnosis was a relief

Posted June 1, 2021


I was born premature weighing just 2 lbs and 12 oz. I had developmental delays. A hernia operation at 2.5 years old while on vacation overseas. Then I developed extreme myopia and amblyopia and spent my teen years feeling unattractive thanks to scoliosis and dental overcrowding.

Every year, it seemed like something new. My 20’s included signs of fibroids and endometriosis. My 30’s was the decade of diagnoses. After taking ciprofloxacin for a UTI from 2013-2015, my body just fell apart. GI issues out of nowhere and tendinosis in my shoulder (it turns out that ciprofloxacin is contraindicated for us!). It took a while to find a doctor who was willing to listen to me. An allergist suspected “joint hypermobility syndrome” (now known as HSD) and I had apparently been diagnosed with that by a rheumatologist who had commented on how my joints were hypermobile. I had never heard of that and my google search results included EDS.

I remember my jaw nearly hit the ground as I read the first article. It sounded like me! Even the random bruising. I was fortunate to have a PCP who listened and moved quickly to get me a referral to Children’s National Medical Center even though I am an adult. That geneticist confirmed that I had hypermobile EDS (hEDS) though without genetic testing. The missing piece of the jigsaw puzzle that is my life seemed found or so I thought. But something didn’t quite add up.

I am unusually myopic and that didn’t seem to quite fit with EDS. My wonderful ophthalmologist speculated over the possibility of Sticklers Syndrome.

This year, five years after receiving the EDS diagnosis, I met with another geneticist. She ordered genetic testing. The result was one I never saw coming. I have a variant of uncertain significance for COL11A1 – Sticklers II. I don’t have that gene. Rather, I am the product of mixed genes…my parents are evidently far distantly related.

I cannot describe the relief I have experienced to have formal written confirmation that all of the issues I have dealt with for forty years are not in my head. I am frustrated that insurance companies refuse to cover genetic testing because hEDS has no gene yet. The criteria specifically state that an hEDS diagnosis requires ruling out other conditions. 90+% of us are receiving this diagnosis as a blanket or catch-all without accurate genetic testing. And that’s 90% of us who actually receive a diagnosis from doctors, not the people who self-diagnose in part due to lack of access to providers or inability to afford genetic testing. A proper diagnosis is vital.

Genetic testing needs to be covered and encouraged.

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