My Diagnosis Journey

Developmental Signs

I had lots of signs in childhood that I had Ehlers Danlos syndrome, except no one knew what to look for! I was considered an anxious, chronically sick, and odd little duck! But I now know that my choking when eating in infancy, awful gastrointestinal symptoms that plagued me throughout childhood, long, thin limbs, easy brushing, growing pains, high resting heart rate, fatigue, and trouble sleeping were all signs of my genetic tissue disorder.

An Early Loss

I danced for 9 years, with a break for a few in there when I started struggling with exercise intolerance. In my senior year of high school, I injured my back falling out of a turn. I lost at least 75% of my senior year of dance, all while staying captain of my team. I had severe back pain, and struggled to walk. At times, I had a really hobbled gait. After months of bone scans, MRIs, X-rays, specialist referrals, I was finally diagnosed with SI joint dysfunction, disc degeneration in my spine, and bone spurs in my hip (I later found out I also had missed stress fractures in my spine!).

I was told I would never dance again.

A Major Pain

In college, I struggled with recurrent kidney stones and ovarian cysts, but the biggest sign of my connective tissue disorder was migraines. I had intense migraines with aura (seeing lights and colors), light and sound sensitivity, and numbness and tingling down my arms. My doctors told me to stop eating deli meat, and things would improve if I just relaxed. They were probably just tension headaches.

Spoiler alert: they weren’t!

I also developed many allergies for the first time, to peanuts, as well as all pain medications.

Chronically Ill

In my twenties, chronic illness became the name of the game. Endometriosis and kidney stones came front and center! Many emergency room visits, pain medications, and lost time at work as a teacher. I went on hormones for my Endo, and spent 5 years in medical menopause. It was absolutely awful! This is when my POTS symptoms came on hard - I just thought they were hot flashes!

At 27, I had a suspicious ovarian cyst measuring 9cm that might have been cancer, so I finally got my first surgery for Endo. Thankfully, the cyst was not cancer, but an endometrioma.

Endometriosis

My surgery resulted in a stage iii endometriosis diagnosis, and I was put on Lupron, a drug developed to treat testicular cancer. The side effects were severe. I lost hair, bone density, and began to deal with worsening swelling. My OBGYN took me off of it, and said I had to get pregnant immediately or risk never having a baby.

Unfortunately, within a couple of months, my symptoms were back and so much worse! I couldn’t even roll over in bed during my period. I needed help. Meanwhile, I was also not getting pregnant. I dove into the endometriosis research and found a surgeon who truly changed my life.

Infertility

I traveled to St. Louis to have an excision surgery. We were shocked to discover I had stage IV endometriosis, 22 different lesions, and a frozen pelvis! Because of my history of ovarian cysts, we decided not to do IVF, but instead a more natural method of bioidentical hormones. It worked. I got pregnant!

Unfortunately, I miscarried. Not only that, but we thought it may have been ectopic! So we traveled once again to St. Louis, only for this time to find I needed a bowel resection.

If that wasn’t enough, just 10 weeks later, I had an emergency cholecystectomy!

End of the Road

My body had been through so much, and yet we were still trying to conceive. My body wasn’t responding to bioidentical hormones, so we tried one more fertility treatment meant to boost my ovulation, despite my concerns about ovarian cysts.

This was it. The final treatment caused massive amounts of joint pain, and my college headaches were back in full force! I could barely move my right arm, and I was deteriorating.

So my husband brought me to our happy place...Disney World. And everything changed….

A Mysterious Decline

It was a rolled ankle in front of Haunted Mansion that wouldn’t heal and the subsequent atrophy, after two major surgeries and an injury, that lead to my EDS diagnosis. Suddenly, I began experiencing debilitating migraines, drop episodes, even aphasia.

My neurologist ordered MRIs of my full spine, an MRA of my brain, a spinal tap, and I was tested for epileptic seizures. We knew it wasn’t MS, Lupus, or anything they could see.

Eventually, an orthopedist referred me to a rheumatologist, who asked me if I could touch my tongue to my nose...and I was on my way to a geneticist!

It’s Ehlers Danlos

I was very lucky to have a geneticist who specializes in EDS right in my own backyard. He went through my entire medical history, as well as my family medical history. I had a full physical exam including measuring different parts of my body and looking at my surgical scars.

Next, we ran a full genetic workup for conditions that cause joint hypermobility, including Loeyz-Dietz and Marfan syndrome. We also tested for the identifiable mutations of Ehlers Danlos syndrome, such as vascular EDS, which causes serious risk of early death due to vascular fragility. All came back negative, and I was given a clinical diagnosis of hypermobile Ehlers Danlos Syndrome.

Why Diagnosis Matters

I am so thankful to have answers for my lifelong chronic illness and disability. For the longest time, I felt like there was something wrong with me, something I needed to hide. I felt like I was running a marathon trying to keep up with everyone else, and I didn’t know why.

Now I have a specialized team who help me find the right answers. More on that in another post!

Having a diagnosis is not only validating, it is illuminating. When you know you have a genetic condition that affects every system of the body, suddenly it is easier to connect the dots. The path to treatment and healing is clearer, and with the right medical team, is easier to tread.