Being Zebras: Why Ehler-Danlos Patients Rarely Get the Care They Need

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“Sometimes we don’t know why people have pain.”

I remember those words like I had just heard them 10 seconds ago. The doctor I’d seen simply wasn’t interested in finding the root cause of my pain. When two tests for arthritis came back negative, I was sent home with the words that might as well have said, “I’m not interested in investigating your case.”

Frustrated, I went home to do what I’ve always done: live my life while pushing the pain to the back of my mind as much as possible. But my knees and hips continued to give out, and my wrists bones kept coming out of place.

A visit to the physiotherapist resulted in a recommendation for knee and wrist braces, which I followed, but there are still no true answers as to why my joints don’t work the way they should and why I’m always in pain. But I suspect there might be an explanation: Ehler-Danlos Syndrome, also known as EDS.

It was my son’s pediatrician who suggested I look into EDS after taking a long family history for my son. Hearing about my several sprains, pain, and hypermobility problems, she suggested I ask my doctor about the condition. But after being dismissed by so many physicians about my symptoms, I was just not ready to ask for help again.

Although my story may seem extreme, it is not unique. For most patients with EDS, diagnosis takes many years—if they get a diagnosis at all. Many patients feel that a general disinterest among providers in root causes is to blame for their long journey to diagnosis. And because there are very few people advocating to change this reality, EDS continues to be underdiagnosed and misunderstood.

Groups like the Ehler-Danlos Society have been working for years to raise awareness and education about the syndromes. It’s from groups like this one that most people first learn what EDS is: a group of genetic, hereditary, connective-tissue disorders with 13 subtypes.The simplest way to explain the disorders is that people with EDS have faulty collagen: “the glue in their bodies doesn’t work.”

Medical literature refers to Ehler-Danlos syndrome as a “rare disorder,” but some question whether it’s really rare or just rarely diagnosed. Because of the supposed rarity of the condition, those in the EDS community have adopted the term “zebra” to describe it.

During training, medical students are often taught that when they “hear the sound of hooves, think horses, not zebras.” This saying is used to avoid misdiagnosis by considering the common conditions first. Many patients in the EDS community, however, feel that this saying means something else in primary care: if there isn’t a simple explanation for symptoms, then there must be no explanation at all. Unfortunately, this attitude results in years of pain and joint damage for many people.

Besides causing hypermobility, stretchy skin, and other problems (depending on the subtype), EDS causes pain that is hard to control and hard to describe. EDS patients sometimes have difficulty pinpointing the exact location of their pain, which makes diagnosis even more difficult. This was the case for Wanda Kellar of Prince Edward County in Ontario, Canada: “When I would tell my doctor that I hurt everywhere, I don’t think he understood… He did not seem at all interested in helping me find the real cause of my pain.”

Because many people with EDS are resistant to painkillers, many live with pain for years before getting a diagnosis. Some EDS patients, like Majesta-Doré Legnini, of Richmond, Virginia, simply learn to become “more used to living with pain—which is vitally distinct from being used to the pain—and grow silent about the symptoms.”

Others continue to look for answers, but are met with barriers to treatment and proper diagnosis. Dakota Barr of Cadillac, Michigan, suffered with severe pain from the time she was a child, and was told that “it was just growing pains and there was nothing they could do.” After many dislocations, misdiagnoses, and frustration, she was finally diagnosed with EDS at the age of 16. But disinterest continues to plague her healthcare. Now 18 and having moved to a new community, the only specialist in town is at a children’s hospital and will not take her on as a patient.

Getting an EDS diagnosis is almost never a linear process. Many patients get passed back and forth from specialist to specialist without getting any real answers, because no specialist has been able to put the diverse symptoms of a chronic illness together for a single diagnosis.

Dr. Brad Tinkle is a geneticist at Peyton Manning Children’s hospital in St. Vincent, Indianapolis, who has diagnosed thousands of patients with EDS. He attributes the difficulty in getting an EDS diagnosis to numerous factors. In his opinion, specialists are often only interested in their area of expertise, while primary care physicians “lack some of the experience on how to handle multiple system issues and are pressured to do things in a short amount of time.” This doesn’t bode well for people needing a diagnosis for complex, lifelong symptoms. Which is why, very often, EDS patients have already solved their own medical puzzle and are coming to their doctor simply to confirm the diagnosis.

Jennifer Garnto was one of the patients who put all the pieces together before approaching a doctor. But like many others, didn’t get the help she needed: “My first attempt at an EDS diagnosis was totally dismissed by the rheumatologist as ‘ridiculous.’ My primary care provider at the time I learned of EDS… kept asking me if there wasn’t someone else I could see because she had never heard of EDS.” After years of symptoms and meeting doctor after doctor who seemed not to take a true interest in finding root causes, she was finally diagnosed with EDS by a geneticist.

Garnto’s experience is not unique. Often it’s the patients who are bringing diagnostic criteria to their doctors who get the diagnosis. Such was also the case with Shawna Wilwand, a psychiatric nurse from Vancouver, British Columbia, in Canada, who spoke with me for this story. Meanwhile, others are told to investigate EDS by specialists who are not their primary doctors and can’t diagnose it officially. This was the experience of Margaret* from Pennsylvania, whose hematologist was shocked at how far Margaret’s elbow bent back during a simple blood pressure test. The hematologist suggested Margaret look into EDS. Like many others who are introduced to the condition, Margaret recognized her own experiences: “Once I began reading about this I was stunned, as it was like reading about ME and my ENTIRE medical life!”

“Because patients often feel doctors are disinterested in their case, advocacy for their own health care becomes a necessity.”

Even patients who do feel that doctors are taking a true interest in their cases have a long history of unexplained symptoms before getting an EDS diagnosis. This was the case for the children of Melanie Thompson of Jefferson City, Missouri: “All in all, once we were finally referred to a specialist, the diagnosis process only took about six months. It just took us years to get that referral.” It was a relief to finally get that referral and to have their concerns validated.

Because patients often feel doctors are disinterested in their case, advocacy for their own health care becomes a necessity. Most patients who have been diagnosed have advice to share with those still searching for answers. Gen from CFB Trenton in Quinte West, Ontario, says, “You must portray your symptoms accurately and express how this is an issue not only to your body but your psyche also.” Shawna from British Columbia recommends, “Write out your questions ahead of time to organize your thoughts and get your point across.”

For Evie Nevin of Cork, Ireland, it takes bluntness. After years of going through disinterested physicians, she went to a new clinic and simply said that she had been experiencing these symptoms all her life, depressants weren’t helping, and they shouldn’t “waste each other’s time.” In her words, “you have to be assertive without being emotional.”

Kristine George of Regina, Saskatchewan recommends that patients still searching for a diagnosis “Keep up the fight… There will be a medical professional who does believe you. They’re hard to find but they really do exist.”

But while advocacy on the part of patients is important, it cannot be the only solution for those with EDS symptoms. Knowledge in the primary care community must increase, and doctors need to show a true interest in listening to their patients. Dr. Tinkle advises that physicians take the time to “listen to information about the pain.” For instance, “if the patients are telling you they have muscle pain and joints are slipping in and out of place, it should tell you about a more mechanical type of pain.”

The physician also emphasizes that EDS can be treated by primary care physicians and that specialists need to take an active role in educating their peers about this condition. There needs to be “a real earnest to educate doctors” about EDS and its related symptoms.

For most people with chronic symptoms, feeling heard by their doctors would go a long way in easing their journey. Patients want to feel that doctors truly take an interest in finding the root cause of their symptoms.

An opportunity to discuss complex histories without hindrance would help, too. In many states and provinces, patients are restricted to discussing a maximum of two symptoms per appointment. Because of this, many patients who have chronic illnesses are unable to address a possible root cause that would tie all of their complex symptoms together. To help patients with chronic illnesses, we need doctors to take an interest in root causes, we need longer appointments, and we need patient advocacy—all of these together will help not only EDS patients, but many others with chronic symptoms.

*Name changed to protect identity, as per patient’s request.

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About Author

Mariana Abeid-McDougall is a multi-niche writer, editor, and mom of three in an out-of-the-box, adventurous family. She is currently travelling through the U.S. and Canada while homeschooling her three young children. Learn more about family adventure travel, growing a career as a multi-niche writer, and more at www.marianamcdougall.com

1 Comment

  1. Pingback: Pain – My Journey

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