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My geneticist appointment + hEDS diagnosis

My Hypermobile Ehlers-Danlos Syndrome diagnosis

A few weeks ago, I was diagnosed with hypermobile ehlers-danlos syndrome by a geneticist. She followed the 2017 diagnostic criteria to diagnosis my hEDS. Watch the video above to learn more about my geneticist appointment and EDS evaluation.

Many of my doctors, including 2 neurosurgeons, my neurologist, and my primary care suspected EDS or another connective tissue disorder, so we weren't surprised. It was validating and relieving to finally have a true answer for whats caused all of my health problems over the few years. At the same time, it's difficult to accept, as it means I could have complications from EDS for the rest of my life.

There is no cure or treatment for EDS, but thankfully many of it's comorbid conditions are treatable. For me, the worst has been the neurological complications of EDS. It's caused me to have instability in my skull/neck all the way down to C5, brainstem compression, chiari malformation, and intracranial hypertension.

Two neurosurgeons on the east coast specializing in EDS/instability have recommended craniocervical fusion/decompression surgery.

What's next for me?

Right now, I am doing physical therapy for overall strengthening before surgery. When you have CCI/neck instability, it's very important you have a knowledable PT, or damage can be done. Thankfully, we found a very knowledgable PT close to home that has trained several times with the EDS PT legend, Mike Healy, in Rhode Island.

In March, we will return to see my neurosurgeon in Maryland to discuss our surgery optinons in further detail. Then we will decide when/if to schedule the surgery.

This is all a lot to take in, and I am still processing it, but I know God will be with me every step of the way.

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