Hunting the Zebra: My Journey to Being Diagnosed With Ehlers-Danlos Syndrome

“Oh, ewwwww, gross! That’s so weird!

…Do it again.”

• What is Ehlers-Danlos Syndrome?
• What Are Common Ehlers-Danlos Syndrome Symptoms?

It was a fun party trick. Something I did to gross out my friends, or make people laugh. I would put my palms flat on the table, rotate my hands inward, hyperextend my elbows, and walk them across the table backwards.

It looked weird or gross to some, and hilarious to others. It was always just something I had been able to do, and I never thought twice about it.

My parents seemed almost proud of my flexibility, which quickly became evident shortly after I started taking ballet classes when I was around 6 or 7. “Look at her! That’s so impressive. She can bend practically double and put her palms flat on the floor! Amazing!”

I clearly remember the day I twisted my ankle in dance class. We were practicing our pas de chats, and when I landed, my ankle just… gave way. It’s hard to explain, but it was almost like I had no strength whatsoever in my ankle. When my weight came down on it, it just rolled to the side and I heard a loud “pop” followed by excruciating pain. Thankfully it wasn’t broken, but that became only the first of many incidences of my ankles giving way.

It would happen randomly, and nothing seemed to cause it. I could just be walking along, minding my own business, and my ankle would just give way, causing sprains and scrapes from falling on the pavement, grass, carpet, ice, etc.

At summer camps, I was the kid who was always going to the nurse’s office for aches and pains. I’m also pretty sure I ended up on crutches more than one year due to my ankles, and my propensity for bruises and scratches that seemed to appear out of thin air.

I never actually broke anything thankfully, but the list of minor injuries was extensive. I have scars all over that I can’t remember getting, as well as bruises that constantly seem to appear out of thin air. I always shrugged it off. Lots of people get bruises they can’t explain, I reasoned.

I made excuses for my injuries and chronic pain. “Oh, it’s probably just carpal tunnel from years of playing handbells/flute/piano and carrying heavy trays. When I have more money and can afford to go to the doctor, I’ll get it checked out.”

I blamed the pounds I had packed on when depression struck. I only hurt because I’m overweight, I reasoned. I blamed my birth mother, for passing her addiction on to me so that I went through withdrawal as an infant. I shrugged it all off, and made excuses year after year.

When I was 15 or 16, I had a “seizure” that landed me in the hospital. The doctor told my parents that frankly, they weren’t sure what was wrong with me, because all of my tests came back within normal ranges. Sleep studies. EKGs. Holter monitors. Glucose tolerance tests. MRIs. CAT scans. They were all “inconclusive.”

I continued to pass out and have non-epileptic “seizures” over the next few years.

Finally in 2010, I had a tilt table test that was positive for something called “neurocardiogenic syncope.”

It was a dysautonomia disorder that was causing my “episodes,” in which I would pass out due to rapidly plummeting blood pressure and “seize.” Treatment was really just avoidance of triggers. It also caused a rapid heart rate, with my resting heart rate usually between 100-120 BPM. It took five years of doctor visits and tests before I got my diagnosis.

Over the years, my joint pain and instability continued to worsen. Last year, my best friend looked at me and said, “Gross. Have your elbows always done that?”

I laughed it off and said yes. She worked at a rheumatologist’s office at the time, and began asking me questions about certain symptoms. The answer to all of them was yes. She suggested that I might have Ehlers-Danlos syndrome, and told me I should look into getting an appointment to get it checked out.

I had never heard of it, but did some research. And all of the pieces started coming together.

Due to a lack of money, it was another year before I could afford to see a specialist.

Finally, I was able to get in to see someone who specializes in EDS. Within 10 minutes of sitting down with me, doing a clinical exam, and looking through the paperwork he had me fill out, he said he was shocked that it had taken me so long to get diagnosed.

He diagnosed me with hypermobile Ehlers-Danlos syndrome. I scored a nine out of nine on the Beighton Scale. Positive diagnosis is five out of nine or higher.

The way it was explained to me is that the hypermobility caused by connective tissue that is more elastic than normal was causing early onset osteoarthritis, which was the cause of my chronic pain. The loose/elastic ligaments were also causing my joint instability and skin fragility.

At the same time, he also diagnosed me with mast cell activation disorder (MCAD) which further explained my food intolerances and chemical allergies, along with my gastrointestinal issues.

He also theorized that I had postural orthostatic tachycardia syndrome (POTS) which is in the same family as the neurocardiogenic syncope I had been diagnosed with. His guess, based on several factors from my medical history, was that I had been misdiagnosed, and likely had POTS instead of NCS.

I was equal parts shocked and elated. It felt weird to be so excited for a triple diagnosis (the doctor informed me that this particular trio of disorders tends to hang around together), but also incredibly relieving and validating.

My whole life, I have been brushed aside, laughed at and not taken seriously. For so many years I was told it was “all in my head” and that “I couldn’t hurt that bad” or that I was “faking for the attention.” I was treated as a drug-seeker when I sought help for the chronic pain. Over time I just quit trying to get help, and just pushed through the pain.

These diagnoses were validation that I was not making it up. That there was actually something wrong with me.

My journey is far from over. I have been referred to a cardiologist who specializes in POTS, as well as a gastroenterologist who specializes in MCAD, and will be seeing them in the new year. I am hoping to get more answers, as well as a treatment plan.

I am cautiously optimistic that I may be able to regain some semblance of normalcy in time.

But even if I don’t, I at least have the satisfaction of knowing that I finally have some answers.

Those who have been diagnosed with EDS often refer to themselves as “zebras” due to the common phrase heard in medicine, “When you hear hoofbeats, think horses, not zebras.”

This phrase (also known as Occam’s Razor) is often used when discussing rare diseases and disorders.

There are a lot of unknowns with EDS since it is technically classed as a rare disease/disorder. But the more of us who are diagnosed, the more research will be done.

As of right now, my treatment options are limited. My main task according to my doctor is to avoid any high impact activity, and to keep my muscles strong to “hold everything in place.”

The pain and instability will only get worse over time. Some people with hEDS eventually end up needing mobility assistance (canes, walkers, wheelchairs). But I am confident that I can make it through, and hopeful that maybe someday there might be additional treatment options. For now, all I can do is keep moving forward, and raising awareness.

If anyone is ever in a similar situation, advocate for yourself! Don’t take no for an answer. You know your body better than anyone. There are doctors who will listen and take you seriously, so don’t give up! Keep fighting. And remember that sometimes the hoofbeats just might actually be zebras.

Getty Image by Manakin