Ehlers-Danlos and Me
In 2019, I was diagnosed with a rare genetic disorder called Ehlers-Danlos Syndrome. Overwhelmed by my own diagnosis, I sought out other Oregonians with the same health issues.
These are their stories.
Not Like Other Knees
The first time I realized my knees didn’t function like everyone else's was in eighth grade. I was at a roller rink for a friend’s bar mitzvah party. I glanced at everyone’s legs as we skated around the rink. But suddenly, I fell directly on my hip and hobbled off the rink in pain as everyone watched.
I ended up at an orthopedist a few days later to treat my injury. He moved my legs in all sorts of directions, testing my pain level and mobility. He said something about a Beighton score, how my knees and other joints could extend back more than they were supposed to.
About 9 years later, I’d return to hearing the term Beighton score. After a slew of injuries and unexplained health issues, I was sitting in a doctor’s office halfway across the country. And this time, it would come attached to a diagnosis: hypermobile-Ehlers-Danlos-Syndrome. Or hEDS for short.
EDS is a group of 14 genetically inherited disorders that affect connective tissue in the body. It’s named after two European doctors: Dr. Edvard Ehlers and Dr. Henri-Alexandre Danlos. They recognized separate characteristics about the disorder in the early 1900s. Dr. Edvard Ehlers was the first to recognize the symptoms as a distinct syndrome, separate from other issues.
“I think [he] noted it in somebody who was part of a traveling circus show, who did skin stretching as part of their menagerie of weird people, anomalies,” Dr. Alena Guggenheim, a naturopath specializing in EDS and other connective tissue disorders at Oregon Health and Sciences University, said.
Ehlers-Danlos Syndrome is estimated to occur in about 1 out of every 5,000 people in the world, according to the National Organization for Rare Disorders. Many people have different experiences with it. EDS patients can have everything from GI issues and nervous system dysfunction to joint dislocations, injuries and that abnormally stretchy skin. My case makes me prone to easy injuries, like spraining a ligament by getting into the bath.
That actually happened to me.
When I was diagnosed, at age 21, I felt like I couldn’t process all the information I was getting about my body. My complicated health history started to connect in ways I never thought it could. So, I turned to something I do know as a journalist: telling a story to process. This series isn’t about me, but own my journey into the world of EDS is inextricably linked to it.
We will explore how three Oregonians live and cope with a systemic chronic illness, in a state with about three dedicated specialists who diagnose and treat it.
Welcome to Ehlers-Danlos and Me, a long-form series about Oregonians with chronic illness.
Only The Beginning
When 30 year old Rachel Gibbons was diagnosed with hypermobile-Ehler-Danlos Syndrome in 2018, she had no idea what the doctor was talking about. She did not expect to be diagnosed with a genetic connective tissue disorder and a related illness known as POTS. For a few months she was in denial about this diagnosis and how it related to her lifelong health issues.
“I think in that moment I was a little overwhelmed because I hadn't ever heard of POTS. I hadn't ever heard of EDS. And so those words were really new to me,” Gibbons said. She had severe headaches, among other seemingly unconnected health issues, for years and went from doctor to doctor trying to figure out what was going on.
“I had been so focused on my headaches because they were my biggest problem even though I had lost a significant amount of weight and was malnourished. There were all these other things,” she said. “But because the biggest symptom in my mind was a headache, I only looked for conditions that revolved around migraine. So I never stumbled upon EDS and POTS.”
When Gibbons and I met for an interview, she had just moved into a new one bedroom apartment in SE Portland. She recently went through a breakup and this is her first time living on her own in a while. She showed me some of her medical equipment that she sometimes uses, including a shower chair and parts of a machine that helps her breathe when she sleeps.
We sat down in her living room, and Elliot, her slinky, small cat, hopped into her lap as we talked. We chatted about what it’s like to find care and support for EDS patients in Oregon, where there are only a handful of medical specialists who know the ins and outs of the disease.
Doctor Alena Guggenheim at OHSU’s Comprehensive Pain Center in Portland sees a large bulk of Portland, SW Washington and Willamette Valley EDS patients due to her expertise and beloved bedside manner.
But Dr. Guggenheim, who many patients affectionately call Dr. G, had to close her waiting list due to rapid growth.
At the current moment, her list is 3 years long, and she already has a patient load that numbers around one-thousand. Not all of her patients have EDS, though. Some have related hypermobility spectrum disorders or connective tissue disorders that aren’t EDS. Some have related health issues like Mast Cell Activation Syndrome, where a type of immune cell in the body goes haywire from normal stimulus causing GI issues, allergic reactions, among many other symptoms..
Oregon EDS patients see a need for more care in state. And so does Dr. G. But she says it’s hard to bring medical students and new professionals into treating EDS for multiple reasons.
“The way that our medical system is created is like isolated care, where everybody is sort of siloed away from each other. The neurologist takes their thing and the GI takes their thing and the orthopedist takes their thing,” she said. “I feel like Ehlers-Danlos is blowing that whole siloed system apart because it forces a provider to think about the system as a whole.”
Patients with EDS often see many specialists because of this. Common practitioners among Oregonians with EDS include allergists, gastroenterologists and physical therapists. If possible, an EDS specialist like Dr. Guggenheim or Dr. Michael Feldman in Bend, Oregon — 162 miles away from Portland — can be a valuable asset for patients. Rachel Gibbons even sought out a second opinion from Dr. Feldman after her initial diagnosis.
“He confirmed that I had EDS and then I really had to accept it,” she said.
But receiving a diagnosis is only the beginning for many patients with EDS. There’s a common misconception that it just affects the joints, so primary care doctors will often send patients who they suspect have it to physical therapy and call it a day.
Finding adequate medical care for the systemic problems that come with EDS is another issue — compounded by medical trauma, overwhelmed medical professionals and rapidly rising awareness of EDS.
The next installment of EDS and Me will explore how this growing awareness affects patients and those who care for them.
Some amount of joint hypermobility, a hallmark feature of Ehlers-Danlos Syndrome- exists in 10 to 20 percent of the general population, according to research studies. But just because someone can bend their thumb to their wrist does doesn’t mean they have EDS.
Many experts like Dr. Guggenheim at OHSU believe EDS is likely underdiagnosed or misdiagnosed due to a lack of knowledge and awareness about the syndrome in the medical community.
“When we try to understand the incidence, how many people are affected by this, the fundamental issue of it not being correctly diagnosed..” she said. “How you do understand the prevalence of a disorder if you don’t have a medical population that knows how to diagnose it?”
Yet, the population of patients with EDS or those considering it as a diagnosis seems to be growing. Or, at least the illness is getting more attention.
In the last year, multiple celebrities, including Jameela Jamil and Lena Dunham, have spoken publicly about dealing with EDS and co-occurring health issues. Over the course of a few years, a Facebook support group for EDS patients run by an Oregon nonprofit grew from a couple hundred to over 1,500 patients. But patients still struggle with stereotyping from medical professionals and the wider community despite this awareness.
Dr. Guggenheim says she tries to dispel the idea that EDS patients are “bad” or overly needy. Instead, she says they are some of the most interesting, most dedicated she’s worked with.
“They realize they have a disorder that’s never going away, and for the most part, that motivates people to get involved with their own care. Patients come to their visits with humor and they don’t expect me to fix everything,” she said.
But with Dr. Guggenheim’s three-year waiting list closed and a scarcity of specialists in state, patients who need adequate care might be lost in the system, need to travel for care, or stay with doctors who want to help but are in over their heads.
Rachel Gibbons, the UX designer in Portland, considers herself healthy compared to other people with EDS. But she says it’s a lot to manage, even when she’s doing well. When she first received her diagnosis, she dove into research.
“I eventually had to pull away from learning so much and diving so deep into the information because it became my sole focus,” she said. “And while it's really important to understand what's going on in your body, you have to find a balance, because I don't know, it will make you crazy.”
She says she attends support groups to show those who are newly diagnosed that she can live with EDS and have a life outside dealing with her chronic illness. But she acknowledges that EDS is with her as long as she lives.
“And it never ends, especially with EDS, because it affects every single system in your body,” she said. For now, Rachel copes by throwing herself into her work, attending support groups and finding ways to rest when she needs it. For others, coping may look very different.
The next installment of Ehlers-Danlos and Me will explore how Rachel Gibbons and Portland graduate student Alexis Neumann approach making art when dealing with a sometimes unruly body and how stories about chronic illness influence the lives of those with it.
The Stories We Tell
Alexis Neumann, a woman in her mid-20s with red hair and a wide smile stands under a heating lamp in a warehouse in north Portland, Oregon. She nervously looks around at the art placed around the three walls of her white showing space and glances across a small hall at her peers’ work. People wander in and out of the spaces surrounding hers. She says she’s going to get a glass of wine — even if it makes her feel a little sick
Neumann, a critical studies and visual art graduate student at the Pacific Northwest College of Art, has been making art about her Ehlers Danlos Syndrome since college. She entered school studying opera. But she lost some scholarship due to worsening health and eventually changed her course of study.
“It was a total grieving process. I was on a career path to be an opera singer, like a professional opera singer,” she said. “And then I got diagnosed and was pretty much told, ‘You aren’t going to be able to perform for a living.’ And that was a really hard thing to hear. Managing that is hard. I also am a very spiritual person and without that spirituality, I have no idea what I would do.”
Most of her art at the showing focused on that spirituality, and she incorporated it into her work about chronic illness — which consisted of two white medicine cabinets placed on a table. They were filled with waxy, orange pill bottles, colorful thread stretching across blank spaces and gem-colored pieces of wax. String lights lit one cabinet from within, illuminating orange pill bottles in an effervescent light. The bottles had become something else in their new life.
“I am trying to destigmatize medication taking, living with a disability,” Neumann said. “I would say all of my art and research challenges stereotypes, that’s literally my main goal. Spirituality and chronic illness are super tied in my mind. Making something beautiful is super important to me.”
As visitors wandered into her booth, they peered into the cabinets to look at the art. This act almost mirrored the daily routine of people across the country taking their meds, looking into the bathroom mirror and swallowing pills with a glass of water or juice. Neumann’s art made a ritual out of a necessary task for many people, acknowledging the ways in which our seemingly mundane actions keep us alive.
“There is rhetoric on mental health and art. But sometimes it’s showing the other side, the hard shit. I’m actually super thankful for my depression,” she said of the mental health conditions that come with living with chronic illness.
Neumann obviously isn’t the only artist with EDS. Rachel Gibbons, the Portland UX designer, studied graphic design in college. She pursued varied artistic hobbies like ceramics and printmaking throughout her life. Her most recent pursuit is calligraphy, which she picked up when she moved to Portland six years ago.
“Once I get really into something, I hyperfocus on it. And so, I was either going to be the most perfect calligrapher or nothing. I would practice every single day,” she said.
But calligraphy, as much as she loved it, wasn’t the best for her fingers, which had been impacted by a previous injury and her hypermobility. As Gibbons’ fatigue and other symptoms worsened, she made the decision to stop studying calligraphy for a bit and focus on her professional work and health. That’s still intense, though.
“My work is a great distraction. I love it. But it's tough when you're always tired or always have stomach pain, or you're always nauseous, or you always have a headache,” she said.
When I asked if she makes art about her chronic illness, she said she doesn’t because of her schedule and health timeline. She started working full-time again in the year following her diagnosis. Now, she feels like she can get back to her art in general, even though her professional work takes the majority of her energy.
Neumann’s art has been a way to process and interact with her illness. While Gibbons had to stop hers and shift her focus, both women’s practices are influenced and informed by their experiences living with EDS. Their stories are going to be different, not uniform.
During our interview, I asked Gibbons about the stories our culture tells about people with chronic illnesses.
“There's two camps,” she said. “There's the people who are "disabled" and there's the people who just persevere, and they don't let it hold them down. And that's just a myth.”
After initially receiving my diagnosis, I hyperfocused on it like Gibbons and found myself drowning in information. I was overwhelmed by the seemingly successful stories and the seemingly tragic ones. I could hardly find any middle ground.
“I think our community when they see those overly inspirational stories, it seems unattainable. And we just want to live a normal, whatever normal is, baseline life and so we need to see more down-to-earth stories,” Gibbons said.
People with EDS are united by a diagnosis. But experiences with it will divide, intersect and parallel like roads on a map. Down to earth stories about chronic illness — ones that portray good days, bad days, and the days in between — exist. They just need to be told in full.
The art in the feature photos is by Alexis Neumann.
Music in these pieces is by Portland musician Haley Heynderickx.
Roller skating sounds are from the BBC Free Sounds Library.
Clip of Jameela Jamil is from an interview with Good Morning America.
Thank you to my sources for opening up to me and allowing me into a challenging part of their lives. Your stories have informed me on my journey, and I hope they will help people just beginning their own journey to diagnosis. Thank you Dr. Alena Guggenheim at Oregon Health and Science University for providing important information on how the medical system treats and deals with EDS patients . And lastly, thanks to my independent study advisor Damian Radcliffe at the University of Oregon School of Journalism and Communication for guiding me and keeping me real during the reporting process.