Published: 16/09/2019

My journey with EDS and Chiari

“You just have to learn to live with the headaches.”

The doctor looked at me with a complete lack of interest, clearly not caring about what that sentence might mean for a 20-something trying to adjust to adulthood as a firefighter/paramedic. I had spent months trying to ignore the pain, overcome the balance problems, and manage life with an inability to properly swallow. If I stood up, I would feel faint. If I bent over, a lightning bolt would shoot through my eye. If I even thought about coughing, sneezing, crying… 

I had gotten to the point where I no longer had good times and bad times. I was in a perpetual funk, unable to function in an upright position. Multiple doctors said they couldn’t help me. A couple said that I had a Chiari malformation, but none of them were willing to consider treating it. According to the experts near my hometown, it “wasn’t big enough for surgery”. We knew I had problems with increased intracranial pressure, so several doctors even told me that I just needed to lose weight to feel better.

Ok. Thanks.

Emotionally, I didn’t know how to handle this new obstacle. I knew that I had dealt with complex health problems my entire life, but they never caused such intense, paralyzing headaches. There was no way I could continue living the way I had been in those months—barely surviving on heating pads, essential oils, headache medicine, massage, sleep, and the monthly lumbar puncture to drain my excess CSF. Finally, my mom decided to pack us up and drive to the Mayo Clinic for answers. Surely, they would be able to help me, right?

A week of testing and appointments with another week in the hospital, and I was nowhere closer to answers. The neurologist sat me down and said that I simply had to get over it. Really? You think I didn’t already want to do that? The frustration nearly broke me. Despite its emotional rollercoaster, I’m convinced that I would not have stumbled upon the video that ultimately led me down a path to diagnosis without my journey to the Mayo Clinic. 

I spent a lot of time in bed waiting between tests at Mayo. In an attempt to stumble upon an answer to the mystery of my headaches, I decided to look up scientific research presentations about Chiari. Just a few clicks later, I found a neurosurgeon presenting his research on the connection between Chiari malformation and Ehlers-Danlos syndrome. I felt like I was listening to him describe my story as he gave a case study, each piece of the puzzle falling neatly into place. 

I read dozens of articles about EDS over the next several days, desperately trying to understand why it seemed to fit so perfectly but hadn’t been mentioned by my doctors in the 20 years of symptom management. Hypermobility—check. Joint dislocations—check. Fragile skin—check. GI involvement—check. Chiari—check. Dysautonomia—check. My medical history was a mirror image of EDS, yet my doctors spent two decades convincing me that I was crazy.

The neurosurgeon was able to meet with me a few weeks later. He ordered a few more tests, but I was eager to find a solution. Interestingly enough, my upright MRI showed a significant Chiari. Literally double the size of the supine MRI. It also showed that my skull was not being held to my spine properly—a phenomenon known as craniocervical instability. My surgery was scheduled immediately, and I was on a plane to New York the following week. The best way I could explain the situation without medical terminology, was that my brain was falling out of my skull, and my skull was falling off of my spine. Scary. 

Ironically, I was glad to finally understand what the problem was. Yes, I was incredibly sad that I now had an incurable genetic disorder and that the surgery would be like a bandaid for the actual problem. But, I was ready to face the pain of brain surgery in order to have a chance at regaining my independence. I woke up from surgery in the ICU with a massive incision, a drain, tubes coming out of basically every hole in my body, and zero headache. The surgical pain was intense, but the pressure inside my head was gone. 

What the surgeon failed to mention was that I would deal with muscle spasms for the rest of my life because my neck had to be fused from the skull to C3. He also didn’t say that nerve damage would mean that I would never feel the back of my head again. And he definitely didn’t mention the fact that the trauma to my brain could lead to epilepsy a year later. Honestly, those things are small in comparison to what I dealt with before surgery. 

I’ve had several surgeries since my decompression, extraction, and fusion. One of those surgeries required going back to NY due to the extra strain on my lower neck. I’ve since been confirmed to have classical Ehlers-Danlos syndrome [cEDS], with a COL1A1 mutation that also makes my bones fragile. But I’ve also had an opportunity to meet hundreds of other EDS warriors around the world through the EDS Society and the Global Learning Conference.

I’m still not completely independent, but I’m able to manage life without laying flat all the time. I have a job that I love, friends that I enjoy, and family that helps fill in the gaps when I can’t get everything done on my own. So, no, the surgery wasn’t a miracle in the sense that I was cured and able to continue living the life I had before headaches. But, yes, it was absolutely a miracle in the sense that I found answers, a community of support, and a chance to regain some function. That definitely counts for something.

Zipperversary: February 1, 2017


Virtual Support Groups

Let’s Chat

Would you like to speak to others living with EDS and HSD but can’t get to any support group meetings, events, or conferences?

Our weekly, monthly, and quarterly virtual support groups for people from all over the world are a chance to come and share your story and chat with others for support.

Related Stories

View all Stories

Sign up to The Ehlers-Danlos Society mailing list