Searching for My Molecular Diagnosis - Round 5

The long dramatic saga of trying to find what genetic flaw is causing Ehlers-Danlos Syndrome in me, told in five parts. This is Round 5. Need to catch up? Start here. Enjoy.

Round 5

September 2017

Las Vegas, Nevada

Ehlers-Danlos Society Learning Conference

I learned so much. I made some incredible bendy friends. I was so glad I had gone.

We are so lucky to have such wonderful doctors, tirelessly devoted to understanding our disease. We are very unique people. Our disease is very complicated. They record these events, so we can get the information and get better care. Have you see the Ehlers-Danlos Society’s YouTube channel?

Someone had given the Ehlers-Danlos Society a ton of money to hunt for the cause of people who present like me.

At the conference, I was re-evaluated by one of the doctors working on the study. I do fit the revised diagnostic criteria for Hypermobility Ehlers-Danlos Syndrome. 

I enrolled in the study.

I gave all my genetic studies over to researchers.

I gave a saliva sample, in case they want to do a whole genome sequence. I won’t own this data, but I don’t care. My people need a cause found. What will it take?

Take it all, do whatever, just find the cause.

It takes a lot of spit to fill that container.

The grad student listened to my stories of CAUSE NOT FOUND. I cried telling them, how hard I tried and how the disappointment always crushes me, even though it really should not as no one ever has promised me a cause found.

We talked about how much it would mean for Ehlers Danlos Syndrome if a cause were found. 

She cried, too. And me, again.