Twenty-five million people in the US are affected by rare diseases – many of them are genetic and life-limiting. One of these conditions is Ehlers-Danlos syndrome (EDS), an unknown and neglected disorder of the connective tissue that can lead to severe disability. Over the last years, popular figures like Jameela Jamil and Mandy Harvey publicly spoke about their lives with EDS, which helped raise awareness. ABILITY Magazine recently interviewed Jameela, who shared her journey as an actress having several chronic illnesses. However, most people with EDS don’t stand in the spotlight, and their experiences might differ vastly. These people need to be heard as well, and this article is dedicated to all of them.
The yellow walls of my living room are spinning around me. I can’t feel my face or my tongue and collapse. It’s a sunny day – the last golden hour rays of light fall through my ceiling-high windows. “I think I have a stroke,” I say with unclear speech. My partner is overwhelmed; tries to catch me as my legs give out and I lie on my couch. I try to get back up, but I can’t feel my feet. “What is happening to me?” I whisper, with my tongue not working, sounding like I am drunk.
I was 24 years old in August 2010 when my life changed from one moment to another. A harmful medical treatment I received a day earlier started a myriad of symptoms and a four-year odyssey, which would cause me to leave my hometown Germany to find medical help in the US, began. Looking back at this time feels unreal and like it’s been a lifetime ago. And in a way, it is.
Today, I am sitting in my living room in San Francisco, working as a journalist after giving up my career as a research associate when I got sick. My writing focuses on telling the stories of people with chronic illnesses and disabilities through a ‘Nothing About Us Without Us’ lens.
The last 11 years have been a journey like no other. I went from being a healthy and athletic 24-year-old who just moved into her first own apartment and started her career in a research lab in Germany to a disabled journalist with more than a page full of diagnoses, with the underlying cause being a rare disorder called Ehlers-Danlos syndrome.
The Ehlers-Danlos syndromes are a group of rare, inheritable connective tissue disorders that affect the whole body. The most prominent sign is joint hypermobility and skin involvement. However, really any organ or system can be involved. As of now, we know of 14 different EDS types that vary in prevalence. The most common type is the hypermobile EDS (hEDS). All types but hEDS can be diagnosed via clinical examination and genetic testing. So far, there is no known genetic mutation for hEDS.
I was born with EDS, but growing up, I didn’t notice too many issues. I had small things, like frequent severe nose bleeds, causing me to end up in the ER; I was able to pop my hip in and out of its socket – this is called a dislocation – and I was constantly in pain, which doctors dismissed as growing pains. Additionally, my digestion was constantly off, which, again, was dismissed either as stress or as psychosomatic. I remember sleeping a lot as a child, often up to 12 hours, especially after I had participated in sports, and I didn’t know life without widespread pain that randomly jumped from one joint to another. Back then, nobody saw a connection between all my childhood issues, and they didn’t bother me too much. So I ignored them – until I couldn’t ignore them anymore in 2010 when my symptoms became so severe that I thought I might die.
But finding out what caused all my sudden issues wasn’t simple. It cost me four years of my life, which were solely focused on finding answers, and additionally a fortune of money for treatments, traveling to experts, and in the end, even flying across an ocean to seek help. Most healthy people disregard my experience as an exception, as something that couldn’t happen to them or any of their loved ones. But let me tell you something: My story isn’t unique. It’s the reality for most people living with a rare and unknown condition. And this article spotlights some of their voices.
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Misdiagnosis
“If only someone had told Carol about EDS. It would have saved both mother and daughter much suffering, loneliness, and judgment” – John
John is a man of his word. Everyone in the EDS community knows and values him and his work with his organization EDS Awareness. When he sends me e-mails, they all start with “Karina…” and often sound like a command. He gets straight to the point and doesn’t waste words on unimportant details. At the same time, John is one of the kindest and most honest people you can find. “I try to remember the phrase ‘We have one mouth and two ears so we can listen twice as much as we speak.’ I try to listen and understand but avoid judging,” John says. And John has been through a lot. He was 63 years old when his wife Carol died. Carol has been sick for more than 30 years, and she was never correctly diagnosed.
John met his wife while in college. They were married for 41 years. “You would think after all of that time, you would know everything there was to know about a person,” John says. Carol was a loving wife who wouldn’t complain about her symptoms that started shortly after they got married in 1967. She experienced issues with her joints, her intestines, her jaw and many other body parts, which resulted in constant pain. When her pain levels became worse in the 80s, John and Carol went to see many doctors, but none understood what was going on. “The doctors did not have a clue what she had,” John remembers. “Carol would describe affected parts of her body as shifted, twisted, crooked, and her favorite word discombobulated, meaning everything was zigzag and out-of-whack.”
Not being taken seriously, Carol felt discouraged and stopped telling doctors about her pain. All tests came back ‘normal,’ and there was no treatment or even a reason for her pain. “They just told her she was overly sensitive, exaggerating, or ‘it’s all in your head,’” John says.
Eventually, Carol was diagnosed with clinical depression, and her doctor checked her into a mental hospital. “During that time, they forced her to take over 13 pills,” John explains, “and one pill caused breast cancer.” After many rounds of chemo, she lost the battle and passed away in 2008 without ever being diagnosed with EDS.
The same year, John’s younger daughter Deanna was found to have symptoms related to EDS. “After much research, Deanna discovered that she and her mother had many similar symptoms associated with what was called hypermobile Ehlers-Danlos syndromes,” John says. However, Deanna’s primary care physician dismissed her and said she looked fine and EDS was too rare. Father and daughter didn’t give up, and finally, Deanna was diagnosed with EDS the same year her mother died. The diagnosis explained both, her and her mom’s life-long struggles.
Today, John is 75 years old and runs his non-profit organization while caring for his severely ill daughter Deanna at the same time. “She lives an incredibly quiet existence: no talking, TV, computer, phone, music; no friends or even visitors, no trips; stares at the wall all day long. Left the house four times last year for doctor appointments,” John explains. John and Deanna started EDS Awareness together in 2011. “We decided a program to help my daughter with her EDS would be a good idea and keep me busy in retirement,” John says. And since chronically ill people often struggle financially, all of his organization’s programs are free.
This is John’s way of making other people’s lives better so that nobody has to suffer as much pain as his family. “If only someone had told Carol about EDS. It would have saved both mother and daughter much suffering, loneliness, and judgment. I do not have room here for all the details about how undiagnosed EDS harmed my wife and daughter’s lives. Just believe me when I say emphatically that if they had known about EDS, their lives would have been dramatically different!”
When I ask John what advice he would give to other people who care for a loved one with EDS, he says, “First, thank you for being an advocate for your loved one. You are embarking on a very challenging journey. Your loved one desperately needs your help. Listen to them and be there to help. Initially, you will discover that healthcare professionals, friends and relatives will not understand EDS. It is your job to educate them and protect your loved one from the world of misunderstanding, misdiagnosis and judgment.”
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Like most people with EDS, I have received my fair share of wrong diagnoses as well. I spent the months between August 2010 and May 2014 mainly in doctors’ offices and hospitals. I can pride myself on the fact that I have visited every specialty in Germany. I visited experts for the rarest of rare conditions, and many experts thought they had the answer, but none actually did. Soon after all tests came back negative, they dismissed my symptoms as being ‘all in my head,’ which I later learned is a shared experience for all people that don’t quite fit the description of the well-known conditions doctors get taught in medical school.
“If you hear hoofbeats, think horses, not zebras” is a phrase physicians learn during their training. This means that they should expect common diseases, not the rare ones, which prolongs the suffering for communities like mine. Fifty-six percent of all people with EDS receive a misdiagnosis – often a psychological one. And in all cases, getting a wrong diagnosis causes consequences, and like in John’s case, the most severe consequence: losing a loved one. The average time to actually getting diagnosed with EDS is 14 years. For many, it takes much longer than that; some never receive a diagnosis in their lifetime.
It only took me four years to get my EDS diagnosis. However, those were filled with self-doubts, anxiety, loss, and complete emotional exhaustion. At some point, if doctor after doctor tells you you are physically fine; if your family and friends start to belittle your symptoms and offer you advice, such as, ‘You just need to get out more and ignore your problems,’ you start believing them. Maybe you are just imagining your symptoms?
If I hadn’t followed my gut feeling, I wouldn’t know that I have EDS up until this day. I continued my search for answers, tried every possible treatment, from physical therapy to a healer. Nothing worked. My condition even progressed. What has started as a complex set of neurological issues with numbness and weakness of my arms and legs moved towards most of my joints in my body becoming unstable; I developed allergy-like symptoms to food and environmental factors; my blood pressure and heart rate started to fluctuate and made me faint; I had chronic pain in most of my joints; and my body was held together by braces and orthosis.
When no doctor in Germany would even take my case anymore, I decided to leave my home country behind and looked for help in the US. In the end, it was a mere coincidence that I ended up at a surgeon’s office who was a specialist for my medical condition. Four years after the onset of my acute symptoms and thousands of dollars later, I was finally diagnosed with Ehlers-Danlos syndrome.
Many people underestimate the severity of misdiagnoses. It’s not an isolated problem affecting ‘only’ the millions of people living with rare diseases. It can happen to anyone. Research suspects that more than 10 percent of all diagnoses given to patients are wrong, and the incorrectly diagnosed conditions are often not even the rare and complicated ones but diseases like lung embolism, reactions to medication, different types of cancer or strokes. In the US alone, this affects 12 million people each year. However, those mistakes are often not even documented anywhere. So the actual number might be much higher. 200,000 Americans die from diagnostic errors every year. Misdiagnoses are the global epidemic that is not talked about even though they can have severe consequences. Over 30 percent of misdiagnosed patients either had life-threatening or deadly outcomes or permanent disability.
Receiving a correct diagnosis might be an important step for people living with rare conditions, but it certainly is only the beginning of the process. Syndromes like EDS are not well-known, and experts are sparse. EDS also leads to so-called comorbid conditions and complications, which are itself rare and largely neglected. Especially in the US, this complexity leads to large hurdles in terms of access to proper care.
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The financial strain when living with a rare condition
“The medical bills are overwhelming” – Jaime
Jaime is a thriving artist who lives in London, Kentucky. She has had more surgeries than ten people ever have to together in a lifetime. Due to EDS, many of the vertebrae of her cervical spine are unstable, putting pressure on her spinal cord and brain – one of many dangerous complications of EDS. She developed this comorbid condition called craniocervical instability (CCI) even before she was diagnosed with EDS. CCI is a mechanical problem of the first two bones of the cervical spine. If they are unstable, being able to move much further than usual, they compress the spinal cord, nerves, blood vessels and the brainstem, which is the part of the brain that controls most of the body’s life-depending functions, like breathing.
However, CCI wasn’t Jaime’s first symptom of EDS. Minor problems have troubled her all her life. “I worked a whole lot when I was younger. As soon as I was old enough to work, I was working and going to school at the same time. And then weird things happened. For example, I developed pain all over my body.” She injured many joints by doing simple tasks, such as lifting a table, but none of her doctors could find anything wrong with her. It wasn’t until years later, when a car accident accelerated her downhill progress and forced her to search for answers.
It was a winter day with all streets covered in thick snow. Jaime texted her employer, telling him that none of her coworkers should leave the office because the road conditions were terrible.
At the same moment, while driving up a hill, a small red car was coming right at her in the middle of the street. Jaime tried to dodge it, hit ice, and crashed into an embankment three times before shooting up in the air and slamming down on the driver’s side. “I instantly got the worst headache of my life,” she remembers. Jaime’s doctors told her she had a simple whiplash injury and would feel better soon, but she never did. After trying various therapies that all made her feel even worse, Jaime visited a physical therapist who pointed out to her that she was severely hypermobile in her joints and told her she might have a connective tissue disorder.
Jaime was finally diagnosed with EDS in 2013. Shortly after, she visited one of the few experts for CCI in the US, who was located in a different state, meaning no insurance coverage for her. “He told me I was one of the most severe cases he had seen in his practice to date,” Jaime says. Additionally, she was also found to have a condition called Chiari malformation, where a part of the brain shifts into the spinal canal – another comorbid condition of EDS. Jaime needed an urgent brain surgery followed by a fusion of her upper vertebras – a major operation, but only her first of many. She remembers as if it was yesterday when she received this life-changing diagnosis. “It was Thanksgiving, and I didn’t know if I was going to live through Christmas. My surgeon ended up saving my life on January 21st, 2014.”
Right before surgery, Jaime was bed-bound. She endured constant seizures and mini-strokes; she couldn’t get up or walk. “I was having a severe vertigo. It was so bad, I couldn’t think or do anything. So my life was basically just laying down, not moving.”
Jaime’s brain decompression and neck fusion seemed to have solved those problems at first. She felt much better and was even able to go back to creating artwork. However, the success didn’t last for long. She was found to have another condition associated with EDS, tethered cord, which means, as the name suggests, that the spinal cord is tethered, causing neurological issues with walking, urination and more. Jaime lost the feeling in her legs which also started to curl up. Consequently, six months later, in June 2014, she went in for her next surgery: tethered cord release.
Her neurological issues improved, but more and more other symptoms appeared. For Jaime, it never stopped. If one problem was fixed, another arose. In 2015, the bones below her neck fusion started to become unstable, requiring further fusion surgeries. Since her first fusion in 2014, she had not gone one year without an operation. “I think the hardest part for me is having known what it’s like to be able to do certain things, and then all of a sudden, it’s impossible to do those. Not being able to go to places I want to go, and not being able to see things I want to see, not being even able to work.”
One of the biggest challenges for everyone living with a rare condition and only a few experts that can help in the whole country is being able to afford the treatment they desperately need. “The medical bills are overwhelming. When I had the brain surgery and the craniocervical fusion – even though I had been working – we still couldn’t afford it. You’re going to spend a couple of thousand dollars, just for a few days. If it wasn’t for all the people supporting me and for fundraising, I couldn’t have done it.”
Jaime isn’t alone with this. Many people from all across the world fundraise to see one of the experts in the US. “It has been a big financial strain and really drained us. But the one thing we try to remember through everything is that you can’t put a price on your health.”
Overall, she has had more surgeries than birthdays, she says: Jaime just turned 41. “Last year, I had four. And the one before, I had 17. Yes, 17 in one year.” And there are more already planned in the future.
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Even in a country as big and diverse as the United States, only a hand full of doctors dare to operate on patients like Jaime. Neck instability, especially in the upper regions of the cervical spine, is dangerous or even life-threatening, and adding an underlying connective tissue disorder to the equation makes it more complicated. The situation in Europe is even worse. Some countries do not have a single neurosurgeon taking those cases, forcing the patients to raise large sums of money via fundraisers to afford traveling abroad and getting surgery in the US.
On the other side, the US has one of the most expensive health care systems in the world. Paying out-of-pocket for complex fusion surgeries can lead to tens of thousands of dollars in debt, or, if those people don’t get the treatment they need, to death. So some patients die from a lack of access to care that does exist – just not in the right country.
In Jaime’s case, she lives in the US, but without proper health insurance, seeing those experts out-of-state can be just as expensive. In 2006 alone, 26,000 Americans died from a lack of health insurance. And these days, due to COVID, many more families lost their job, and, therefore, their insurance as well. One study found that from all causes of bankruptcy in 2007, medical debt accounted for 60 percent.
This is an ongoing problem in the US. Adding a rare condition many doctors don’t know anything about exponentially increases the financial burden. Almost for all medical procedures, the US is at the top of the list in terms of costs. Now, many people with EDS have not only one comorbid condition, but several, for which they need to find experts all across the country, adding a stack of medical bills on a constant basis, since those conditions are all chronic and need permanent care.
To name just a few of the comorbid conditions and symptoms that require long-term care: mast cell activation syndrome (MCAS), craniocervical instability, tethered cord syndrome, dysautonomia, small fiber neuropathy, gastrointestinal problems, chronic pain and fatigue, heart or blood vessel complications, and many more. Most of these lead to a myriad of full-body symptoms, and they also influence each other, making it necessary for the person to have a medical team consisting of specialists all across the country or even the globe.
Personally, I have traveled from Germany to Maryland, and then later from California, where I relocated to, several years in a row, paying doctors visits, medical tests and all the travel expenses myself since neither my German insurance nor my California insurance would cover the experts I had to see, even though there were none in my state. A single trip can quickly add up to a few thousand dollars. So my yearly medical trips were somehow also my imaginary Hawaii vacation at the same time.
In the greater context, EDS isn’t too different from other neglected chronic illnesses in terms of getting the right care and being able to afford that care. However, people living with EDS deal with additional challenges. One of those is facing gender bias, because most of the diagnosed population is female.
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Gender bias in medicine
“Medical trauma is a real thing.” – Brianna
Brianna is a 31-year-old physician assistant professor living in LA. She was diagnosed with hypermobile EDS when she was 20, but her symptoms started a decade earlier. As an avid softball player, she noticed her knees constantly moving out of place. “I was also kind of a chubby girl growing up. So for the longest time, everybody told me my knees just hurt because I was a bit overweight. A nice way to shame a child for being obese,” she says.
Shortly after her knees started to cause issues, her shoulders dislocated as well, leading to her first shoulder surgery at the age of 16, followed by a knee surgery at 18. Doctors prescribed her strong pain medication, which hid her symptoms for a while, so Brianna went back to being an athletic training student in college. When other body parts started to cause her pain, a physical therapist she visited noticed her hypermobility. “‘You are too young to have all of this,’ he said,” Brianna remembers. “Most of my doctors told me I was depressed, and when you are a young person, you just believe what they say. It took literally only one person to give a shit,” she says.
Fortunately, after finishing physician assistant school, fewer doctors doubted her symptoms. “Healthcare providers treated me significantly differently because I was able to speak their language. When you drop medical jargon, they ask if you are in the medical field. If you say yes, you’re a human worthy of their time. Obviously not how things should go in the medical field, but that’s how they do,” she says.
However, being dismissed based on our symptoms isn’t the only hurdle women with EDS going through the medical system have to overcome. Brianna isn’t only a woman with EDS, she also has Hispanic roots and identifies as bisexual. “Getting healthcare as a woman of color in the United States is hard. Having those intersectionality issues – whether somebody is LGBT, a person of color, or disabled – it changes the care that you get,” she states. In the past, Brianna experienced severe discrimination because of her gender and ethnicity when she visited the emergency room for a spinal fluid leak, causing her arms and legs to contract uncontrollably. “The paramedics told the nurse, ‘Don’t worry, it’s just Hispanic panic.’” And they refused to do any diagnostic tests or treatments.
This incident shouldn’t remain the only time she was discriminated against. Even her professional environment wasn’t free from gender and ethnic bias. When Brianna told her former employer about new symptoms she had developed, including weight gain and feeling nauseous all the time, he responded, “Well, are you sure you’re not pregnant? Because when pretty Latinas start getting nauseous and having their bellies grow, it’s always because they’re pregnant,” she remembers. As a medical professional, of course, she had excluded the possibility of a pregnancy before approaching her boss. “I was raised from a young age to know that racism does exist. I remember even going back to when I played softball, my dad told me, ‘You’re going to have to be twice as good as every other person on your team because of the color of your skin.’”
Being misdiagnosed for so long and dealing with many situations of discrimination and, as a consequence, a neglect of care have left deep wounds. “I turned a lot of that anger onto myself. I didn’t even have the energy to advocate for myself anymore because I just saw myself as such a low self-worth. And I didn’t realize that all of those lifetime-long microaggressions contributed to the way I saw myself.” Brianna is working with a therapist to get over this trauma. “It really made me scared to go to the ER. We just went to a hospital yesterday, and the whole time, I was in this slightly triggered state. Just hospitals, in general, carry a lot of concern and provoke a lot of anxiety for me,” Brianna explains.
Brianna uses her trauma to incorporate it into her teaching, so that other medical professionals and PAs don’t cause more harm to chronically ill people. “I tell them medical trauma is a real thing. It really affects and shapes how the people are going to sit in that chair across from you. And you need to be extra kind to your chronic illness patients, because it’s guaranteed they had some type of encounter where they were mistreated, and it’s important that you go that extra step to help put them at ease.”
Brianna’s experiences made her the person and professional she is today, and now she uses her knowledge to help and treat other newly diagnosed EDS patients, especially those who belong to a minority. “It horrifies me to think, ‘How many people with EDS that have darker skin are going to go their whole lives not knowing that this is a thing?’ So yeah, that’s something that really keeps me up at night and makes me fired up to advocate.”
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Discrimination based on gender isn’t a new problem in health care. It’s widespread, and there are many studies confirming that women who state their symptoms are more often dismissed than men. Stereotypes such as the ‘typical woman’ is hysterical, complaining, emotional and sensitive to pain have fed into those biases, and it’s hard to eradicate them. Women also get prescribed less pain medication than men when presenting in the ER with severe pain. And in case of serious, life-threatening illnesses such as coronary syndrome, they have to wait for much longer than men for appropriate care.
Chronically ill women experience this discrimination even after getting a diagnosis. And this constant gaslighting, belittling and dismissing their symptoms, leads to trauma and self-doubts, like in Brianna’s case. Every person I have spoken to that has been misdiagnosed over years at some point doubted their own perception of their body and whether it was really ‘all in their head.’ For some EDS patients, this led to complete avoidance of medical care out of the fear of not being taken seriously all over again.
As a white woman from Germany, I have had a certain privilege in the US that other women don’t have. However, I have experienced gender-based discrimination on many counts; the most obvious, when I visited a male doctor while accompanied by my husband. All of a sudden, the medical professional wouldn’t talk to me anymore, but to my husband, who doesn’t know nearly as much about my health than I do. My chronic pain has also been dismissed on many occasions as me exaggerating. As a consequence, I wasn’t given proper pain medication. At the same time, when I told doctors that I am currently not taking any pain medication (because I didn’t have access to those), they would tell me that if I can cope with my pain without treatment, it can’t be that bad.
Not only women experience challenges when they live with a rare condition. Having EDS as a man comes with its very own hurdles.
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A rare male perspective
“What people think about you isn’t important” – Dakota
Dakota is a young man who calls himself “social in other ways outside of the norm.” I wasn’t able to meet him in person, even though we spent time in the very same room. He attended a film screening of my documentary about Ehlers-Danlos syndrome, which mainly featured females, as the condition seems to affect more women than men. Eager to share a male perspective, Dakota approached my friends and offered to lend me his voice for an article showing his side of the condition.
Dakota is 18 years old and studies history. Unlike most people with EDS, he was diagnosed early on, at age 4. “My mom was very avid about telling doctors that I wasn’t a normal baby. My skin was super soft, and I bruised easily. A lot of doctors would turn her away and say, ‘Oh, he’s just a baby. Babies hurt themselves.’ But I had a lot of digestive issues and other injuries too,” Dakota says. His mom’s persistence paid out, and he was sent to a geneticist, who eventually diagnosed him with classical EDS.
Growing up with EDS as a male was hard on Dakota, especially at school. Every time his friends wanted to play basketball or football with him, he had to decline. “If I was on the playground, I would just constantly get hurt and end up in the health office,” he says. In middle school, he was forced to take PE, but without having to participate. So while all his friends played games, he would sit on the sidelines, keeping score. “I remember one day, I was like, ‘All right, I’m just going to do it.’ I played soccer with them, and I tripped and totally messed up my arm; got bruises everywhere. After that, I realized it’s fine not to participate. I would just get hurt anyways.” He learned to compromise and became more interested in photography and technical theatre.
Being a growing young man with a chronic illness causing chronic pain is challenging. “It makes you feel fragile, and that’s something you don’t want to be known for. I’ve had friends joke about me being fragile, and this really doesn’t make you feel good. So I try not to tell people unless I have to.”
On top of EDS, Dakota also lives with anxiety and depression, which makes coping even harder. He recently started to date, and doesn’t want to constantly have to explain his condition to others. “One date was really strange. This girl thought my condition was really weird and just wanted to play with my double-jointed fingers. And then there are these people who want more of a muscle-type guy who can go to the gym with them. And I’m just not that.”
As a young, shy man with EDS, Dakota was hesitant to connect to other people with the condition. In fact, the first time he saw someone else with EDS was at the film screening. Since then, he has joined a support group. However, the lack of male voices does bother him. “It’s different if you talk to another guy that’s affected versus to a girl, because there are specific ‘men problems.’ Men and women’s bodies aren’t alike, and EDS affects us differently.”
When I ask Dakota what the hardest part about being a man with a chronic condition is, he explains that he hates those stereotypes emphasizing that men have to play sports and are generally unemotional, or don’t show how they are feeling. “I’m a normal, average guy; nothing is different, except for the EDS. But that causes a lot of people to make assumptions about whether I am into boys or girls. It’s really offensive to even ask that question, because it doesn’t matter. And it’s also a personal thing that shouldn’t be anybody else’s business, but people make those assumptions when you are a drama kid instead of a football player.”
Dakota always finds ways around his limitations, so he can still be involved in his college community. Recently, he became a community service officer who patrols campus and keeps everybody safe. “It’s a nice way for me to be able to have a positive impact on the community and a good job, where I don’t have to be standing or running around.”
Dakota’s main advice to other young men with EDS is to get connected and not let gender norms control you. “You are who you are. You don’t have to be 6’1 and super muscular to be a man or to be a person. You can be 130 pounds and totally skinny. What people think about you isn’t important; what you think about yourself is important.”
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The ‘typical’ man is described as ‘stoic, tolerating pain, denying pain, autonomous, in control, not talking about pain,’ says a publication about gendered norms in chronic pain patients. And as Dakota confirms, these stereotypes are deeply rooted in our minds and quite hurtful for young men living with a chronic condition. So while women are dismissed as being hysteric and weak, men are made fun of and expected to keep their pain to themselves, contributing to neglected care and a decline in their health as well. They must be ‘brave and manly,’ therefore they might avoid care overall. The same study also found that men who live with chronic pain are often viewed as being less masculine. So gender bias works both ways and is always harmful to the patient – whether it is a woman or a man.
Now, adding another intersection to the picture, such as living with a rare condition and belonging to a minority, for example, being a person of color, exponentially increases the challenges faced.
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Ethnic bias in health care
“I know for a fact that she would never say that about a white person“ – Nia
Nia is a 30-year-old TV reporter who lives in Boston, Massachusetts. She has been diagnosed with EDS two years ago and lives with several common comorbidities of EDS.
Her journey with EDS started in 2014 when she developed severe digestive issues. “It was as if overnight my life changed completely. My whole gastrointestinal system shut down,” she says. Nia experienced symptoms like reflux, pain, loss of appetite, and hair loss from malnutrition. “I lost a lot of weight; I was very fatigued and tired all the time. I could hardly walk upstairs,” she remembers. Additionally, she lived with bladder issues, as well as with a dysfunction of her autonomic nervous system.
After seeing many experts, – even visiting the Mayo Clinic – ruling out conditions such as lupus, and spending most of her income on doctors and therapies, she almost gave up hope. “I’ve had doctors tell me there’s nothing else they can do for me; there is nothing wrong with me,” Nia says. At this point, she was continuously losing weight until she was only 117 pounds. “Doctors would say, ‘Well, you don’t really have to eat three meals a day, you know.”
Then she moved to Boston and made a last attempt at finding answers for her diffuse symptoms. By coincidence, she found a gastroenterologist familiar with connective tissue disorders, who immediately diagnosed her with hypermobility disorder, sending her to a geneticist to confirm the exact underlying condition, which was hEDS. “I wanted to cry because he knew everything that was wrong with me, and why it was wrong with me. And he’d been studying these things for years, and the heavens opened up. I just couldn’t believe it after all of this time,” Nia remembers.
From there, Nia joined support groups and immediately noticed that there aren’t many people with EDS who look like her; who are women of color. “So few doctors even know about EDS, and then on top of it, there are these misconceptions about African-Americans or black people. The US health care system has a long history of bias towards African Americans,” she explains. “On the flip side, there are a lot of black people in the United States who have various misgivings about medical practitioners and the health care system, because of the way black people have been treated historically.”
Even though Nia calls herself more ‘privileged’ than other black people because she has always had good health insurance, she still faced discrimination herself. “Doctors believe black people less compared to non-black people. I definitely think my treatment in some instances was consistent with the way many black people in America are treated in the US health system.”
One of those instances happened in the hospital where she received a false treatment for a misdiagnosis. When Nia rightfully questioned her nurse’s directions in a respectful manner, the nurse reacted by calling another department, telling them Nia was a pain in the ass. “And I know for a fact that she would never say that about a white person,” Nia says. “Imagine if I’m going through that, and I have good health care, what other people are going through that either don’t have access to health care or don’t have good health care, you know?”
When I ask Nia about a good advice she has, especially for ethnic minorities seeking a diagnosis, she responds, “Whenever we are navigating the health care system, we must be really diligent; we must always do our research and always believe in our bodies. If you feel like something is wrong, trust your instinct. If you go to the doctor and the answer isn’t satisfying, get a second and a third and a fourth opinion, till it works.”
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Historically, people of color have faced bias in health care on many levels. They have been left untreated for medical conditions due to the misbelief they were immune to certain viruses or bacteria; infections like HIV affected black communities at a disproportionally higher rate than other ethnicities. Even today, ethnic minorities die at a much higher number from COVID than any other population. Their access to care is inferior compared to the care white people receive, and the quality of care they receive, as well as the outcome are worse as well. Apparently, this also leads to differences in life expectancy. Moreover, people of color more often die from heart disease and strokes than other populations, and the infant mortality rate is increased. Research has also shown that a low to moderate amount of implicit racial bias was identified across most studies that have been conducted on this topic, and this obviously contributes to disparities in health care for people of color.
One of the most dangerous parts of this bias is the many misconceptions medicine still has about the bodies of people of color, for instance, the wrong belief that people of color feel less pain. It has been found that even to this day, medical students often believe black bodies are biologically different and stronger than those of white people. Apparently, this leads to black people not receiving appropriate care, often in the form of a lack of pain management. Other harmful beliefs are, for example, that black people’s blood would coagulate faster compared to white people’s, or that their skin is thicker. Obviously, none of these are remotely true, but even a percentage of medical professionals do still believe those. And then, of course, there is just plain racism that some people of color face when they seek care.
Sooner or later, all people living with EDS will experience a harmful interaction with health care professionals – some more significant, others less. Medical professionals around the globe aren’t knowledgeable about the rare condition, and as the people in this article described, this can cause severe consequences to their physical and mental health. However, this lack of knowledge can go even further: families with chronically ill children facing child abuse allegations.
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Wrongful child abuse allegations
“These people can come in and do whatever they want.” – Jennifer
Jennifer is a 52-year-old stay-at-home mom, who lives with EDS herself. She has nine children, of which three are hypermobile. Her 14-year-old daughter, Christine, is the most severely affected and has several comorbid conditions of EDS.
When Christine was six years old, she developed first signs of EDS. She would constantly sprain her ankle simply by walking. Her symptoms increased with age, but no doctor took her seriously. “She was constantly dislocating. She was continuously vomiting. She kept passing out when she’d stand up. And nobody could figure out why. They just kept telling me, she’s depressed,” Jennifer remembers. While walking through a grocery store, Christine would pass out 10 to 15 times – every couple of minutes.
Christine experienced a severe childhood trauma, which her doctors used to dismiss her physical symptoms. When the young girl couldn’t cope with her symptoms and the neglect of medical help anymore, she tried to take her life. “It’s overwhelming when you can’t get anyone to hear you. She told me, she’s tired of throwing up. She was tired of never being able to do anything without dislocating. And she was tired of passing out nonstop.”
As a consequence of those events, a doctor turned Jennifer in to child protective services. Even though she saw dozens of medical professionals with her daughter to finally get help for what she knew was Ehlers-Danlos syndrome, she was accused of child abuse for ‘a lack of medical care.’ On the other hand, another doctor assumed Jennifer had Munchhausen by proxy, a condition defined as a caregiver causing an illness or injury to the person under their care – two very contradicting accusations. “When the CPS worker came to my house, she said, ‘What is going on? I have one hospital telling me this child is obviously hypermobile and not getting proper care, and then I have the doctor in the clinic saying the mom has Munchhausen by proxy.’”
Fortunately, Jennifer found a sports medicine doctor who examined Christine properly, and found her to have EDS. The EDS diagnosis started a chain reaction leading to finding all the other diagnoses, such as POTS, gastroparesis and more, that doctor had been dismissing as depression or anxiety.
However, the child abuse allegations were only resolved after Christine’s therapist got involved and showed them that Jennifer, as well as Christine, have been working on the girl’s mental health problems, as well as on her physical symptoms. It’s been the doctors that had been dismissing mother and daughter.
It took seven months for the case to be closed. “The therapist told CPS that there is something else going on and somebody needs to just listen to this child because she has seen her over and over again. And the one thing the child keeps saying is, ‘No doctor hears me. No one hears me. My mom hears me. You hear me, but no doctor hears me.’ And I think it’s partly because they look at her file and see she has anxiety and depression. So they conclude that must be what’s wrong before they’ve ever stepped foot into a room.” Those allegations left deep scars in Jennifer’s family. The children are scared. “These people can come in and do whatever they want. They have full control.”
Today, Jennifer and her children at least have a diagnosis and doctors who are willing to listen. However, for Jennifer, the worries never stop. “To watch your child go through what you went through is a lot harder than going through it yourself.”
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Sadly, this isn’t the first time I have heard a story like this. When I traveled through Europe to produce a documentary about Ehlers-Danlos syndrome, every family I visited – whether it was in the Netherlands, Belgium or the UK – who had children told me they were at least once questioned about child abuse when they brought their children in for an injury due to EDS, especially with bruises, a common symptom. Child abuse allegations have severe consequences on the mental health of the child as well as the parents and might continue even after receiving a diagnosis of EDS due to a lack of knowledge of how the condition presents. This is always the same: Doctors just don’t know enough about EDS.
After I got severely ill, I made it my main goal to raise awareness for people with chronic illnesses and disabilities. I quit my job as a research associate and transitioned to journalism to better support my community. People like us deserve to be seen and to be heard, because nothing will ever change if we don’t speak out.
This article features a diverse group of people who can in no way represent our whole community since we all present so differently from one another. But they certainly can highlight challenges that count for all of us, and they bravely shared their stories with me to make all of you readers aware of what we have to deal with every single day. For us, nothing ever comes without a fight. And this will continue until every last person has heard of EDS. This article is a start. Share it. Spread the word. Educate people on EDS. Support us to get the care we deserve. You can literally help to save a life.
Learn more about EDS: https://www.chronicpainpartners.com
EDS Documentary We Are Visible: https://we-are-visible-film.com
Karina Ulrike Sturm
