A lifetime of missed opportunities

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It is clearer now, more than ever, that people like Hallie, are having the trajectory of their lives determined by the missed opportunities of doctors to make an educated diagnosis of Hypermobility-related disorders, such as Hypermobile Ehlers-Danlos Syndrome.

As you will read, Hallie is one of the rare few who have defied the odds, persisted in their quest for adequate diagnosis and management, and been able to take back some control of their lives.

Adequate diagnosis and management should be a right for all, and that is what we (including Hallie) fight for.

I’m 14 years old, and I know, in the bottom of my heart, that it is my last gymnastics competition. My back has been throbbing, my shoulders ache, and I usually have at least one ankle wrapped. My parents have made it clear that I am one injury away from them pulling me out of the sport I love, and so I allow my back injury to fester without telling them, until every movement sends bullets and lightning rods through my back. I do not know yet that my spine has 3 fractures, but I know there is no hiding the pain, written as clear as crystal on my young, worried face. And after the meet, as I collapse into my mother’s arms, medals clanging together and tears streaming down my face, I know I need to get to the doctor.

My parents knew something was different from the time I was born. Despite being born 2 weeks preterm, I was born with bowed legs and “overcooked” skin. The doctors decided not to perform leg surgery, and everyone moved on.

Next came the digestive issues, beginning in infancy as I began solid foods. Food moved straight through me, and I spent my days eating with everything running right through me, until I was diagnosed with failure to thrive. During my toddler years, my parents trialed dietary changes under my pediatrician’s supervision, and ultimately removed wheat, followed in later years with removing all gluten. It worked for a time, and I grew healthily.

I began walking, and was constantly bumping into things and covered in bruises. My legs were bowed, I in-toed, and my ankles and feet rolled inward. My parents took me back to the pediatrician, and he told them to get me involved in gymnastics or figure skating to strengthen my legs. I was far too clumsy to put onice skates, so gymnastics became my activity.

Before I knew what happened, I had fallen in love with the sport and gymnastics became my life. It came easily to me. I was flexible as a pipe cleaner, and daring as a Navy SEAL. But by the time I started competing, at just 8 years old, it was clear that I was getting injured more frequently than my peers. I rolled my ankles, hyperextended my elbows and knees, and just always seemed to be in pain. I thought it was normal though. I thought it made me strong, like Kerry Strug winning the gold for Team USA at the 1996 Olympics by vaulting on a severe ankle injury, landing on one foot and heroically being swept up into Bela Karolyis arms. I was a gymnast, I was strong, I was a warrior.

Meanwhile, the digestive issues continued. I went to GIs, and a family friend who was a physician mentioned to my parents that I was hypermobile, and that could be related to my digestive difficulties. My parents took me to specialists at a local world-renowned hospital. It wasn’t celiac, Chron’s, or colitis. So the physicians dismissed it as IBS, and did not put much thought into the hypermobility, despite my parents bringing it up as a relevant factor.

The seed was planted. I was 11 years old, and the doctors weren’t listening, but my parents knew we were onto something with the hypermobility.

I was 15 years old, and had been plagued by injuries for as long as I could remember. A broken elbow from a hyperextension injury. An elbow sprain from playfully arm wrestling with a fellow young athlete. More ankle sprains than I can count. Shooting pains in my ankles, different from the sprains. Shoulder strains. Endless wrist pain diagnosed as chronic stress fractures. And finally the 3 stress fractures in my spine that put me in the giant plastic TLSO brace, from collarbones to hipbones, for 5 months, followed by 6 months of physical therapy.

I knew how to tape my ankles by 9 years old, and by 12 years old my friends came to me with questions about their injuries. I read books about sports medicine, and jumped on the opportunity to take sports medicine as a course in high school. I was a regular in physical therapy, and began asking my physical therapists more detailed questions. I was on my path toward my future career.

My back fractures, coinciding with my chronic wrist fractures, were the final straw. My parents took me to specialists, trying to get the Big Picture. They mentioned the hypermobility, and my mom even demonstrated her own hypermobility. The orthopedist referred us to a complex care specialist within the hospital, and yet, nobody seemed to care.

They performed a bone density scan, and when it came back normal, they moved on. My mom asked about the increased hair growth on my arms, and they brushed it off as “cultural,” despite none of my family members having as much body hair. They told us I was fine, and sent us on our way. Only years later did we learn that the hair growth was one of the early signs of hormonal imbalances as a result of polycystic ovarian syndrome (PCOS).

After I stopped gymnastics with my back injury, I lost the muscular strength that was gluing me together. It soon became clear that my ligaments were not doing their job. During dress-up days in school, friends would “dress up” as me by borrowing all of my braces and supports, maybe throwing in a crutch or two.

By the time I was in college, I had developed an eating disorder. It was complicated by the fact that when I tried to exercise, I kept getting injured. I just could not find a healthy balance. I was anxious, I was fatigued beyond belief, running student organizations, and yet I was still maintaining a high GPA while getting my B.S. in kinesiology and taking courses on the pre-PT track. Each time I went to the doctor, reporting my high levels of fatigue, and often feeling lightheaded, they tested me for mono, the tests came back negative, and they told me to tone it down and get more rest.

I am 24 years old. I am a student in a doctorate of physical therapy program, and I am a physical therapy patient as well, for my third major injury since beginning PT school. I now know how hypermobile I truly am, as I have learned the norms and compared my joint motion to my classmates. Slowly, I begin to put the pieces together, and as we learn about Ehlers-Danlos Syndrome, I realize my puzzle pieces fit into something. I mention my suspicions to my PT, who is also my professor. She lifts the skin of my hand, and dismissively tells me, “no, your skin is not stretchy enough. You can’t have EDS.”

Early on in physical therapy school, my classmates, professors, and I all realized how hypermobile I really was. When my knee gave out on me when I was just standing still during my first year, resulting in a sprained MCL and months of physical therapy, I started to look further. Then I was a patient in PT for my back and SI joint. And later, I went back again when I subluxed my shoulder during pilates.

Still, I kept up with my classmates, going to the gym regularly, standing for hours during labs, keeping up with intense studies, and trying to have a social life as well. When I almost passed out during a lab once and had to lay down on the bathroom floor, nobody thought much of it. We were all stressed, and it wasn’t that uncommon for PT students to forget a few meals and pass out.

Despite my frequent injuries, my time in PT and at the gym kept me strong enough to get through. I made it through PT school, got married, and moved from the East Coast to California. We took a road trip cross-country for 3 weeks, and though I struggled significantly with the altitude at times, we made it through some pretty grueling hikes together.

When I began to work as a pediatric physical therapist, I found myself working long hours with physically demanding patients, and with no time to properly work out and stabilize my joints. Despite absolutely loving being a pediatric PT, I trudged through each day exhausted, lightheaded, and in pain. But somehow, I stumbled on aerial acrobatics, and I fell in love with flying all over again. I made it a priority to make it to classes, and I was so excited to have the thrill of gymnastics again, without needing to worry about the high-impact landings of my former sport.

Soon after getting involved in aerial, the persistent pain in my hands finally drove me to go see a rheumatologist. By this point, I was confident in my belief that I did indeed have Ehlers-Danlos Syndrome (EDS), a hereditary connective tissue disorder that has multisystemic ramifications. But the pain in my hands concerned me about autoimmune conditions I had learned about, so I finally went to a rheumatologist.

To my relief, my rheumatologist ruled out the autoimmune conditions, but confirmed that I did, indeed, have hypermobile EDS.

For the first time in my life, I had a specialist truly listening to and addressing my concerns. We began to manage my pain, and as I mentioned my fatigue, lightheadedness, and dizziness as well, she recommended I look into dysautonomia, or a dysfunction in the autonomic nervous system.

While my rheumatologist managed my care and was a source of incredible knowledge and relief for me, I spent the next two years searching for physicians who were knowledgeable in dysautonomia. I struggled to find doctors who could diagnose or manage dysautonomia, but over the course of these searches we discovered some other quirks. Spine x-rays showed that I now had a progressive hypermobile scoliosis, and a brain MRI showed an empty sella, meaning my cerebrospinal fluid had entered the pocket of the brain that houses the pituitary gland, and was pushing on my pituitary gland.

I finally convinced my neurologist to order a tilt table test when he did not know what else to do with me. During the test, I had a severe drop in blood pressure, but did not have the increased heart rate that I had grown accustomed to experiencing while going about my day-to-day life. It clearly showed a problem, but not the one I was expecting. Either way, by that point my husband and I were in the process of moving back to the East Coast, and I had an appointment set up with a dysautonomia specialist in our new city.

When we made it to the new city, it was time to establish care with a whole new team of specialists. To my delight, I found specialists that were knowledgeable about EDS and respected my opinions in their approaches.

After further testing, my dysautonomia specialist concluded that I was experiencing both POTS (postural orthostatic tachycardia syndrome) and cardiogenic presyncope. With his help, I was able to begin to manage these conditions. He decided it was best for me to take a break from aerial acrobatics while we find ways to manage my dysautonomia, so I have dutifully been counting down the days until I can return to the air.

I miss my California rheumatologist, but I found a new rheumatologist in my current city. I had some visits with a mast cell specialist due to my frequent hives and itchy skin. After thorough testing, we determined, to my relief, that I do not have mast cell activation syndrome, but instead multiple environmental allergies to which I am highly reactive.

I’ve gone through another GI workup to no avail, but work with a dietician to determine the foods that my digestive system is better able to process. I finally made it in to see a geneticist, who confirmed that I have hypermobile EDS (hEDS) and not a more severe type of EDS. And I am working with a team including a PCOS specialist and maternal fetal medicine to help establish a baseline of health in hopes of future successful, healthy pregnancies for myself and for my future children.

I am 27 years old. I am still exhausted all the time, and yet I am full of life. I am a full time pediatric physical therapist, working long days. I am on more than 10 medications, and keep a backpack full of splints and braces with me. I wear a neck brace for car rides, and have a headache most days. I love to go on weekend adventures to new cities with my husband. My subluxations now frequently occur in my knees, SI joint, ribs, shoulders, wrists, and throughout my hands, though I have had periodic subluxations in other joints as well. I regularly see a PT, a therapist, and a myriad of specialists who share a goal with me to get me healthy and keep me active.

I have the love and support of my husband, family, and friends. And while I cannot control my health and how hypermobile EDS comes and knocks me down sometimes, I can control my narrative and tell my story to raise awareness, to support others, and to gain support myself. Through this journey, I have become part of a community of beautiful people with various chronic illnesses and disabilities. I have made friends, I have been inspired, and I have motivated others. Would I wish this condition on anyone? Absolutely not. But for what it’s worth, its constant presence in my life has shaped me into who I am today. And I like who I am today.

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  • Zoe

    Hey Hallie,
    It was so good to read your story! I’m in such a similar situation, I’ve been diagnosed with so many different disorders (EDS, fibromyalgia, arthritis etc.) since I injured myself every week while competing gymnastics as well. It’s so good to hear you’re managing it

  • Nina

    Hi Halley,

    Have you ever had a patch test? I was diagnosed with a nickel allergy as a child. I also have had digestive problems all of my life and had the typical Gi workups including endoscopy that ruled out celiac and mast cell disease. It wasn’t until I developed Systemic Nickel Allergy Syndrome did I lean about the impact of nickel in my diet. There are high amounts of nickel in just about every healthy food you can eat. Since my diet was all healthy food, I was eating too much nickel causing infammation and GI symptoms. There is a correlation between nickel allergy and EDS. Consider checking it out. Good luck.

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