Parexel’s Deb Pasko shares her personal rare disease story in honor of Rare Disease Day

 Hello, my name is Deb Pasko, and I am a RWD Solutions Director within the Scientific Data Organization at Parexel.  I have Ehlers-Danlos syndrome, hypermobility type, known as hEDS.

My life pre-diagnosis

I started gymnastics when I was four years old.  My older sister was already enrolled, and I remember going to the gym with her and one of the coaches asking my mom to enroll me as well. By the time I was seven, I was spending all my summers going from camp to camp and by age 10, I was highly competitive.  When I was 12, my parents were approached by the past US women’s gymnastics coaches, Bela Karolyi and his wife, Marta, to join the US women’s team at their Texas training facility.  I was a great gymnast because I was extremely flexible and fearless.  All the trainers used to say I was “double jointed.” At the time, I didn’t know what that meant, and honestly, I didn’t care.  However, when I was 14, my gymnastics career ended abruptly when I fell coming off the uneven bars and went headfirst into the wall.  I woke up in the scanner at the hospital and remember the neurosurgeon coming into my room and telling my parents that I had a massive skull fracture that almost paralyzed me. I thought my world was over, but little did I know the roller coaster that would become my life was just starting.

Diagnosis

When I was 19 and a freshman in college, I dislocated my right shoulder.  An orthopedic surgeon popped it back into place, but it kept dislocating over the next month. I sought treatment at the Ohio State University Children’s Hospital, now known as Nationwide Children’s.  The surgeon there moved my arm around and proceeded to do a clinical examination that included a hypermobility rating, known as the Beighton Score, along with asking me five questions.  I answered “yes” to every question and could do every movement he asked of me.  Then came the diagnosis: “Deb, I am positive you have something called Ehlers-Danlos Syndrome (EDS) and that is why you were so flexible as a gymnast.”  Me: “What the heck is EDS?!”

My life post-diagnosis

For the next 32 years of my life, I would proceed to have a variety of medical problems, including migraines, allergies (mast-cell activation syndrome (MCAS)), GI-reflux, esophageal spasms, temperature instability (known as autonomic instability- Dysautonomia), postural orthostatic tachycardia syndrome (POTS), along with numerous joint surgeries –14 in total (left shoulder x3, right shoulder x3, right knee x1, right ankle x1, left ankle x3, left hip x1, right hand x2), with the most recent being the third surgery on my left ankle in Nov. 2022.  You may be reading this and thinking that I don’t ever have a “normal” day but actually, I do.  I have learned to cope and overcome.

The medical system

Over the last 32 years, I have seen more specialists than I care to count.  It must be close to 50. A 2009 rare disease study indicated that during the quest for a diagnosis, 58% of EDS patients consulted more than five doctors, and 20% consulted more than 20. To make matters even worse, the medical system tends to believe females less often than males.  The same story surveyed 414 families of EDS patients from five countries and found that the average delay of an EDS diagnosis was four years for men – but 16 years for women. There were so many times I left a doctor’s office feeling like I was crazy and wondering if I was really having these symptoms or if I was just imaging them.  That was a terrible feeling.

None of my doctors linked my symptomatology together until 2014 when I moved to Maryland. I started seeing a primary care doctor at Johns Hopkins and she referred me to a Hopkins EDS specialist.    Over the next four years I lost weight, started eating clean, and exercised five to six times a week.  The way to stay in the healthy zone is to maintain an optimal weight and keep the muscles strong to compensate for the weak tendons and ligaments so the joints don’t dislocate.  Finally, I felt like I was learning to live WITH my diagnosis.  Then, in April 2020, two days after my 49^th birthday, the COVID tornado hit my body.

COVID years

On a Friday, I felt like I had a stomachache, which was a very strange symptom for me to have.  I spent most of my weekend in the bathroom.  This was early into the COVID pandemic – we didn’t know a lot, but I did know I didn’t want to go to the hospital.  Monday morning, I had a telehealth appointment with my primary care doctor and by that afternoon I had a Zoom call with my PCP, an infectious disease doctor and two MDs from the CDC where I was clinically diagnosed with GI-COVID.  This was the tornado that would wreck the next two and a half years of my life.  COVID affected my stomach to the point I began eating a gluten-free, dairy-free, soy-free and egg-free diet.  Then, in Jan. 2021, it triggered Hashimoto’s disease (where my thyroid started attacking itself), and then the cascade began: pericarditis (Feb. 2021), respiratory COVID (Dec. 2021), vestibular neuritis with vertigo (March-May 2022), E. coli GI infection (June/July 2022) and respiratory COVID again (Sept. 2022).  When my body started attacking my thyroid, I gained weight and my temperature instability worsened.  The pericarditis landed me in the hospital for four days and I had to take medication for four months before it went away.  Just when I thought life couldn’t get worse, it took two months in 2022 for doctors to determine it was the E. coli infection causing my symptoms, which simulated food poisoning two to four times a week, with each episode lasting 12-24 hours.  My faith in the medical system dwindled with each visit I had, as it took months to understand what was happening and how to fix it.  More than ever, I had to be my own patient advocate.  As a pharmacist, trained in critical care medicine, there were days I didn’t trust my doctors and tried to find answers myself.

Staying positive

My 20s and 30s were the hardest years of my life.  Not much was known about EDS and with surgery after surgery, neither my doctors nor I were able to put the pieces of the puzzle together.  However, in my 40s, after reading countless EDS articles, books, watching YouTube videos, etc., I learned coping mechanisms for the pain and dealing with the syndrome as a whole – exercise, meditation, music therapy, acupuncture, massage therapy and finding out what medications truly worked for me.

My hope for the future

There are currently 13 different types of EDS reported in the literature.  It is my hope that gene therapies can advance to the point where an actual cure can be found for at least the most common types of EDS.  As far as my journey ahead, I am back to losing the weight I gained during the COVID storm, eating clean and making my mind and body strong once again.  You may get knocked down, but you need to keep getting up.  Live life, don’t just exist in it – have no fear and no regrets.  For anyone reading this that may think they have EDS, please visit the EDS society website, read this CNN story, learn as much as you can about EDS and be prepared to be your own advocate.