It was a huge relief to finally have a diagnosis other than “unspecified”.

Posted July 15, 2019

My mother and father said the moment I was born the doctors knew something wasn’t quite right. I was born 11 weeks early (I decided to make an early appearance) by emergency c-section. I’m a fraternal twin, and I was born with congenital bilateral hip dysplasia and a collapsed lung. They didn’t really give me a good prognosis and the first 4 months of my life I was in the hospital.

Apparently even as an infant I kept trying to show my parlor tricks, by showing how flexibile and hyperextendable my fingers were.
The doctors had decided to not do anything to fix my hip dysplasia, so nothing was actually done until my first surgery at the age of 3. This first surgery would be the first of many hip surgeries to come (most recent at age 26). I’ve had 17 surgeries total with 13 of them orthopedic either for my hips or my feet due to clubfoot and bad hammertoes. During all this time I was sent to specialist after specialist and finally a geneticist in the ’90s. Doctors at the time knew little about EDS, but some kept trying to determine if I had it. I showed my tricks to many; very flexible fingers, stretchy skin, easy bruising, bad scarring, hyperextendable joints. They diagnosed me with “unspecified EDS”.

Fast forward to my 20s, and my cardiologist had recommend I go back to see a geneticist. They completed the whole genome exome sequencing to try and figure out exactly what type I may have. The test results finally come back with the official diagnosis of arthrochalasia EDS (aEDS). Reading over the signs and symptoms it really all began to make sense. It was a huge relief to finally have a true diagnosis other than “unspecified”.

I’m the oldest of 3, and the only one with any signs or symptoms of EDS. I always enjoy teaching others about my diagnosis and what I live with everyday. I suffer with subluxations, dislocations, pain in joints, early onset osteoarthritis, rheumatoid arthritis and many others but I keep going.

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