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Stanford Medicine

Chronic Disease, Genetics

Zebras with different stripes: One patient's story

Zebras with different stripes: One patient's story

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases will share their unique stories; the latest comes from patient advocate Heather Pierce.

Though I’ve been impacted by Ehlers-Danlos Syndrome (EDS) ever since I was a child, I didn’t first hear of this genetic connective tissue disorder until I was in my 30s. A serendipitous meeting with a geneticist changed my fate.

In my nervous introduction, I promised the new doctor that I was not a hypochondriac, but really did have a funky body. Her curiosity piqued, she smiled a little and responded, “Try me!” After hearing my symptoms, she had her own questions, which initially seemed random, then slowly started to connect the dots of my life. Who else in my family was like me? What were my pregnancies like? What injuries have I had, and did I have any problems healing? She felt my skin and started bending my joints. Then she started talking about Elhers-Danlos Syndrome.

For the first time I made perfect sense to a doctor, and it blew my mind!

Lack of awareness about EDS and stories of it taking years to get a correct diagnosis have led us patients to call ourselves “medical zebras.” For me, my hoof beats were not those of the horses that doctors are asked to think of first; doctors who saw me would mention multiple sclerosis, lupus, and irritable bowel syndrome before settling on fibromyalgia. While I spent years seeing specialists and undergoing tests, EDS was not considered by anyone. After my misdiagnosis of fibromyalgia, I spent the next 14 years damaging my body believing my pain was a false indication of an otherwise functioning,  if neurotic, body. Well-intentioned doctors, seeing the horses they were supposed to look for, used my misdiagnosis as a dumping ground for my growing problems.

Eventually, the compiling effects of injuries, increasing dysautonomia, pain and joint weakness created a virtual checklist for a doctor educated in EDS.

EDS is a frustrating diagnosis – the disease exhibits itself differently in each person and has no cure or treatment outside of supportive interventions. Some people are mildly affected while others find themselves unable to function outside their beds. Genetic testing is not fully developed for some of the six types. And current imaging techniques don’t show the severity of the impacts on the body, especially the pain, which is both chronic and acute.

But looking for answers with my great team of current doctors, researching the ever-growing amount of information, and connecting with others with EDS keeps bringing home to me the fact that even medical zebras have different stripe patterns. One patient may be struggling with mobility issues from sudden dislocations of knees and hips, while another experiences more subtle impairment, as a joint slowly slides out with an activity such as walking. One person’s body may react to the hypermobility by locking in spasms, while another can do nothing effective to tighten up a loose joint. Someone may have severe gastric issues while another struggles with vision. The possible effects of faulty connective tissue are endless.

Last spring, I met with my new primary care doctor for the first time. Our discussion began with him reacting to my diagnosis by saying, “I see here you have EDS. How does it feature itself in you?” I wanted to hug him! It was so wonderful to feel like I had found someone who would treat me individually.

As EDS patients, our experiences are so different that all theories, symptoms and treatments won’t apply to all of us. But it’s important for people to understand that this doesn’t make EDS less legitimate or our experiences in it less valid. After all, zebras make hoof beats too!

Heather Pierce, of Baltimore, MD, is a married mother of two who co-leads an Ehlers-Danlos support group and is a volunteer for EDS awareness and education.

45 Responses to “ Zebras with different stripes: One patient's story ”

  1. Wendy Station / Encephalitis Global Says:

    I know from experience the challenge it is to raise awareness on a rare disease. Your dedication will make that difficult pathway a bit easier for others touched by EDS.
    High five to you Heather!

  2. Shani Says:

    Thank you, Heather, for so eloquently describing the unique stipe patterns of medical zebras with Ehlers-Danlos Syndrome. I have EDS-Hypermobility Type which is one of the types which does not yet have a genetic test available. Diagnosis for my type is done through clinical examination, medical history, and family medical history. For anyone wishing to learn more about Ehlers-Danlos Syndrome, please consider reading through Ehlers Danlos National Foundation at http://www.ednf.org. Here’s the challenge for doctors, Dr. Rodney Grahame, a reknowned EDS expert in London, has proclaimed EDS to be the greatest underdiagnosed condition today.

  3. Wendy Blackburn Says:

    Your experience with a non/mis-diagnosis is unfortunately so common in so many disease categories (even those less rare). You set an excellent example for other people seeking help and support for their conditions: Pay attention to your body. Seek out healthcare professionals that are willing to listen. Then communicate clearly with them for the best end result.

  4. Jennell Says:

    My experience has been similar with the exception of finding a good doctor. Unfortunately, with my insurance, I have to go to doctors within my network. I have been assigned to a Rheumy but he even admitted that he hadn’t read anything about EDS in about two years. He knows NOTHING!! It’s so frustrating to finally know what is wrong, and STILL get no help. His prescription pad is handy, but other than that he’s useless. I even asked to be sent somewhere for silver ring splints since I type all day for a living. He did it, but the occupational therapist he sent me to knew NOTHING about EDS and would only give me a splint for my middle finger & thumb. I’m so tired of fighting with doctors. I have fought my whole life and wasn’t diagnosed until I was 40! To top it all off, I’M THE ONE WHO FOUND IT. I was also diagnosed with fibromyalgia but didn’t feel it fit my symptoms. After much research on my part, I found EDS. Was sent to a geneticist and sure enough, I was right.

    Life is hard enough already trying to live halfway normal without the added frustration of the medical community knowing nothing about our condition. Some can actually no more harm than good if you are not treated correctly.

    I’m so very happy for you that you found a good doctor. That’s more than half the battle!!

  5. Anneliz Hannan Says:

    Heather;

    Thank you for sharing your story. I was unaware of EDS and now feel enlightened by your chronicle.

    It is welcoming to hear that you have found a PCP who sees you as a whole person rather than a group of symptoms. I especially like his phrasing of “how does it feature itself in you?”.

    Zebras are beautiful animals.

    Thank you
    Anneliz

  6. Louisa Says:

    I also went through the euphoria of finally having an explanation for a lifetime of pain, and the relief of finding a reason for the degeneration in my spine that started in my childhood. But the euphoria was quickly replaced with the realisation that my life will never be what I had hoped. To accept this challenge and to spend each day fighting for help, to explain over and over is exhausting. I can only hope that one day more people will understand EDS and see that someone who looks young, fit and healthy can be desperately struggling to live through each day. I deserve help, I deserve pain medication, I deserve to be heard. Thank you for helping to spread the word.

  7. Melanie Thompson Says:

    I have just about given up on doctors. I live in a small town and do not have the resources to see someone elswhere. I am frustrated and annoyed that it takes forever to get them to pick up a medical journal and learn about my condition. I am a mild case, however, my struggles are real and hard to face on most days. I am a single mom of one amazing daughter and I hate that even on good days I have to tell her I can’t do some things because of the pain. I am so thankful that awareness is growing. I pray for a day when we do not have to do the doctor’s job of figuring out a diagnosis and treatment plan. We are a small yet mighty group. If we can live and thrive with EDS, we can make a difference in the medical community. We can and will make a path for our children so they can live longer, healthier, happier, and eventually pain free lives. Thank you to everyone who fights for our cause.

  8. Tamara Fabian Says:

    Thanks Heather for sharing. I started having problems with joint pain at the age of 6. I was told I was just klutzy and just needed to deal with it. I was diagnosed with fibro at age 19 and wasn’t correctly diagnosed until I was 24. I have found a wonderful set of doctors. I have gone through 18 joints surgeries so far. It is nice to find someone who doesn’t think you are crazy and will help you control your issues. We need to keep informing others of this syndrome. Maybe with our stories we can help others get the correct dx. Keep your head up and keep smiling( even though it is hard to do when you hurt with every move). Zebras are beautiful and everyone is different.

  9. Nancy O'Bannon Says:

    Thank you, Heather, for a great article about living with EDS. You have been such a helpful, knowledgable member of our Inspire group. Like you, meeting with a geneticist for the first time was the ONLY time I had talked about all my symptoms with a doctor, and it all made complete sense to her. What a relief to feel so validated, after years of misdiagnosis after misdiagnosis! After my initial relief came the realization that I didn’t have ANY other doctors who knew anything about Ehlers-Danlos Syndrome. I was 40 years old when I was finally diagnosed with EDS, despite the fact that I had symptoms my whole life. Besides the lack of knowledge in the medical community, the hardest part has been living with unrelenting severe acute and chronic pain. Though we are all so different in our specific presentation & symptoms, the pain seems to be a common thread for most of us. Unlike the “typical” chronic pain, we also have repeated bouts of acute pain & injury, like you mentioned. If there was one thing I could change about the medical profession, it would be to have them really listen to patients when they describe and report pain. EDS pain is well documented as disabling, and too many EDSers have had difficulty finding doctors willing to adequately treat their pain. For me, the single most important aspect of symptom management, is pain management. I have been very lucky to have a doctor who was willing to learn about EDS, and willing to treat my pain. He undoubtedly saved my life! Thanks again, Heather, for spreading awareness that Zebras DO indeed exist!

  10. Jane Kohuth Says:

    Heather,
    Your story is so very familiar. I was diagnosed with EDS hypermobility type at 27 after a 6 year search for help, a diagnosis of fibromyalgia, and much dismissal by doctors who saw a “healthy young woman” and were unwilling or unable to go beyond the obvious. I became a detective, combing resources for a condition that explained my disparate symptoms, and found one in EDS. Sadly, my PCP rejected my query/plea for her to consider that I might have the condition. It took a few more doctors to find one who recognized EDS (I was too afraid to speak up again) and sent me to a geneticist who confirmed the diagnosis. Six years later I’m still struggling to find some kind of therapy that will help as my condition continues to get worse. I’ve been sent to physical therapy so often I’ve lost count, and believe that it’s done, on the whole, as much harm as good. I think that with EDS the protocol should probably be to order scans first, rather than trying physical therapy for weeks or months, since we’re more likely to be injured and less likely to respond normally to strengthening routines. I’m now at the point where some damage is clear enough to show up on MRIs, but may not be treatable surgically. The only really hopeful thing I have to report is that I’ve seen more and more familiarity with EDS in the medical community in the last few years (though some doctors will make me bend solely to satisfy their curiosity). The awareness efforts are working and patients are working together online to share information. I’m holding out hope that some real progress in treatment will be made in time for it to help me and others struggling today.

  11. Carmen Says:

    Hi Heather,

    Thanks for describing your world with EDS. I was struggling to understand one of the primary calling cards of your disease: increasing dysautonomia. After a search to Google, I can see how symptoms related to excessive fatigue, thirst, dizziness, and panic could be confused with other conditions. While I am glad you now know what you have, there is a clear need for more research to get to the bottom of this for all patients with EDS. Thanks for the education.

  12. Jennifer B. Says:

    EDS patients come in all shapes and sizes- some are normal size, but many are like me, tall and very slim (I prefer “slender” or “slim” to skinny)- just another confounding part of the condition.
    My biggest challenge with EDS (aside from pain and pneumothoraces) has been my size. I have been under 100 pounds for years and am 5′ 8″. Every time I see a new doctor, I am questioned as to whether I have an eating disorder. I have even had doctors check my arms for track marks under the guise of a physical exam (I’m a nurse, so I understood the fascination with my inner elbow). Coping with how the outside world views me has always been difficult; this difficulty is compounded when doctors believe you may be doing something to yourself!
    Please, doctors, don’t jump to hasty conclusions- people with EDS aren’t making themselves dislocate for attention, nor are some of us extremely thin for reasons outside of our diagnosis.
    Sometimes looking the way I do is a blessing, as some doctors immediately guess that there is something wrong with me. Other family members with EDS look perfectly normal, and doctors tend to discount their pain/suffering.

  13. Lisa Says:

    Heather, you are a blessing. Thank you for sharing your experiences.

    Like another poster, I live in a small town too and a rheumy I saw was calling what mine is ‘Benign Hypermobility Disorder’ which is now, as far as I am aware, linked in with Hypermobile Ehler’s-Danlos Syndrome…. what was interesting to me is that he completely discounted a list I’d brought to him which outlined everything from childhood ‘growing pains’ on up to a horrid two deliveries that were severely problematic, to a surgery that normally would have taken four hours (took 10.5) and after which a normal patient would have been home in four days (I wasn’t even able to walk until four days later and then wasn’t sent home for a week)…. I hope I can find a better doc soon, because as I get older, the pain is increasing and none of the pain management I am trying is working (so far). SOME pilates helps, but I need guidance with it so as not to hyper-extend.

    Wishing you the very best.

  14. jill Says:

    hey heather
    well done! we definitely have some zebras in our house. carly and i feel like life has “begun” again since we found you and the eds group at the library! so may years of doctors telling us,it all was in her “mind”. all the years of invasive and unsuccessful treatments.

    it is so wonderful to have a “zebra” family to share this bumpy ride with. carly and i feel empowered when we listen to you, shani and other members of the eds tribe.

    you are truly helping families like ours, and we greatly appreciate you, shani and the rest of the gang.

    best, jill

  15. Non-stop crises Says:

    My 20 year old daughter was just diagnosed with EDS. I have to say, this is a disease that is not discovered unless you have a whole lot of money *and* great health insurance. And even if it you get a diagnosis, there’s little the doctors can do about it. It’s a horrible sentence for the sufferer and his/her family.

  16. Stephanie Says:

    The more we get the word out the better it becomes for us. I am part of a sub set of EDSers that also suffers from Osteogenisis Imperfecta. The doctors made that diagnosis early on. However, because OI also affect collagen any other symtoms I had were dismissed. Even when I started having serious heart problems the doctors just diagnosised me with a list of unrelated problems. It wasnt until I began to suffer from crippling intestinal complications that a serious look was taken at all the symptoms. Even then it took four years and a trip to the National Institute Health in DC. Over those four years the doctors did so much damage that it took years to some what recover. But in recent years more and more doctors at least recognize EDS even if they think all it consists of is loose joints. Trying to explain all the random symptoms I have is exhausting, but it is a step forword. We just need to keep pushing and educating.

  17. Rose Says:

    I have vascular Ehlers-Danlos. I am 53 years old and have the classic ascending thoracic aortic aneurism. I am now diagnosed with post-streptoccal glomerulonephritis after a year of illness. My VEDS complicates this, of course, because with my lousy veins, I am not a candidate for dialysis. For thirty years doctors have puzzled over my prolapsed organs, torn ligaments and tendons, ignoring the occult spina bifida which is a marker for EDS. My son developed jaundice immediately after birth–surprise! a marker for EDS! I have been transfused twice during surgeries (“gee, you bleed a lot!”). It was a doctor who had been trained by the Army who spotted EDS in me a year ago. I had never heard of EDS, but looked it up online. Wow. What a revelation that was. But here in suburban DC, no one knew what to do. They passed me from specialist to specialist this year until my kidneys failed. Now what do I do? Not sure. One radiologist was very matter of fact. He said, “Oh, you’re one of those crazy curly headed people with VEDS,huh?” Uh, yeah. “You’re lucky to have made it this far. By all rights you should be dead by now.” I also have osteogenisis imperfecta and inherited hypercalciuria from my dad. So I am a real genetic anomaly. The local doctors say, “no one has EDS. That can’t be right. I’ve never seen a case of it…” What follows is usually the office manager firing me as a patient. One doctor came right out and said, “you’re a boat no doctor wants to be captain of.” I hand them copies of the information from the EDS site, but they don’t want to be bothered. One said, “you’re going to die soon anyway. I don’t want to bothered.” That doctor admitted to me quietly that his “clinical knowledge was ten years out-of-date. My wife keeps me pretty busy. Maybe you really have cancer…”
    No what I had was meningitis caused by strep. But it went untreated, now the strep has spread to my kidneys and blood stream and here I am. If I sound frustrated, I am. I have had it with doctors and their callousness and willful ignorance. I used to carry a copy of the medical history I sent to the geneticist. But no one would read it. “We throw medical histories in the round file,” one told me. Thanks, loads. In my experience, doctors only want you if you’re easy. They take your money and pass you on…I’ve spent over $12K this year out of pocket (and I have great insurance) with these ignorant doctors, and now here I am with kidney failure and nothing can be done. The ascending thoracic aortic aneurism? “Gee, lots of people have that,” the cardiologist said. “Maybe lifting weights would strengthen your heart?” Or it might dissect, I said. “Oh is that what happens?” the cardiologist said….And he was the GOOD cardiologist. If I had a dollar for every time I had been told fibromyalgia or hypochondria, it would almost pay for all these wasted copayments. Yeah, I have had it with lousy doctors and their worthless diagnostic skills. You try to educate them, but they’re not interested.

  18. Susan Says:

    Hi Rose,

    I too have VEDS and have mild kidney failure. Hemodialysis is not the only way to receive dialysis. I too was told it could not be done through the veins. If you need dialysis now, there is peritoneal dialysis that is done through a port in the abdomen……there are portable machines that can be used at home…usually done overnight. Hopefully this is something that can be done for you. I do not need dialysis yet (hopefully I won’t ever…). Do not lose hope….my emial addy is smgiley@aol.com. I run a very large emial group through yahoo especially for people with VEDS and their families….just search VEDS. Take care….my prayers arewith you.
    Susan Ginley

  19. Susan Says:

    Oops…email smginley@aol.com error above

  20. Kim Lawhead Says:

    Thank you so much for the opportunity to help educate the medical community about EDS and how it presents individually. I was diagnosed in St. Louis in elementary school. However, neither my parents nor I understood what EDS meant or did to your body. I just thought I was double jointed and would experience some pain – and I got a “Get out of PE Free” card – so I was happy and didn’t pursue any further knowledge. My individual list consists of 7 pregnancies with only 3 making it to delivery (and even those I was on bed-rest, meds and had cerclage but delivered pre-term); diverticulosis; IBS; insufficient heart valves; spontaneous rupture of small veins/arteries; severe bruising; headaches of every sort; vision issues; the list goes on… I never contributed any of this to EDS. However, last year I was tired of going to my PCP and saying that I hurt and being told it was a part of getting older. I took myself to contact a Rheumatologist who confirmed my diagnosis of Classical EDS and started me on the road to knowledge. I now have a team of doctors: my PCP, a Rheumatologist, an Ortho, an Opthamologist, a Geneticist and a Physical Therapist. I am on pain meds to help my chronic pain so that I can function. I have compression gloves to assist in typing so I can stay employed. I use a cane as needed when my hips are not cooperating. In addition, I can educate my children who appear to have this as well with different presentations. My son is like me: joint hypermobility and pain with an MVP. My daughter, however, has significant GI issues and even had growth concerns for a bit due to the inability to absorb nutrition correctly from her food.
    While my current medical team is interested in helping me and will listen to me when I state I have a new symptom/manifestation, it took a long time and many appointments where I felt like a hypochrondiac. My own family would say that I was making things up or that everyone hurts once in a while, or that my bruising was normal…many bruise easily. Most recently, I had shoulder surgery of a SLAP tear, rotator cuff tear, my bicep was fraying, they clipped my clavicle and put in two anchors to tighten my tendons so that I wouldn’t continue to sublax and cause more damage. Others would ask how I injured myself. I would tell them – just by living. It is a tough disorder, mainly because it is not a common one and for the most part stays invisible to the rest of the world. By far, the worse part is trying to prove to others that something is just not right or to try to explain it to others who wonder why a perfectly healthy looking 43 year old women wears those gloves and uses a cane. Thanks again Heather for your wonderfully written description of the life of a Zebra and the chance for us to tell our story.

  21. Barb Says:

    Thank you for doing such a great job of representing us zebras!!! I am 48 and have HEDS. Finding a good medical team is paramount to battling this disease… I am one of the lucky ones and have had a superior team for the past 14 years!

  22. Ted Eytan MD Says:

    Heather,

    The Inspire team sent me your story via Twitter and asked me to read it, I am a fellow mid-Atlantic-er in Washington, DC.

    Our training in health care to look for the horses and not the zebras can cause people to not listen to the cues of things that aren’t like everyone else.

    I am curious about whether your new physician team has better listening tools – e.g. availability of your health care data online, ability to e-mail you back and forth, and would this have made a difference in your previous brushes with the health care system, if people could “listen” outside of the in person visit?

    Second question would be about social media / social networking – do you think these tools are an opportunity for more doctors to connect with patients and learn about the types of illnesses that they may only see once or twice in their careers?

    Thanks again for the post,

    Ted Eytan MD
    Washington DC USA
    @tedeytan

  23. Ben Says:

    Thank you for posting this story. I’m 37 and wasn’t diagnosed with hypermobility due to EDS until last December, and it completed a huge puzzle for me. I thought that being 6’2″ and overweight was the reason I’ve had back and neck problems my entire life, but they persisted when I began losing weight. I was fortunate enough to injure my hip and end up in the office of a doctor who was able to properly diagnose me. And now everything makes SENSE. This is why I have gastrointestinal problems. This is why I have flat feet. This is why I get canker sores if I eat anything sharp, spicy, or salty. This is why my skin tears and bruises so easily. This is why I can barely go anywhere if there’s not a comfortable place for me to sit, why I get so exhausted, and why everything I do just hurts like hell. Up until then I thought it was the Multiple Sclerosis, which I learned about in 2006. So I’m sick. I’m going to be sick for the rest of my life, and most people will never have any idea how badly. It’s already cost me a job, relationships, and friends.

    Now I’m fighting. I was in physical therapy for five months, doing my stretches and playing with the medicine ball while meeting dozens of other patients. People would have surgery, come in, work out for a few weeks and recover, and I’d still be there when they left. Sometimes people in their 70’s. And they’d ask me what’s wrong because I look FINE. But in physical therapy I learned that I can exercise if I pace myself. I started biking after my divorce last year. I really started enjoying it until I hurt myself. Then I could barely walk for a few months. Now I can ride 20 miles, which should be physically impossible because of the Ehlers-Danlos, in 95-degree weather, which should be physically impossible because of the MS. Because I have to. Because nobody can fix this for me. Nobody can give me a pill, brace or shot that does anything to make my body work better. I could medicate and fade away into a narcotic haze, but it’s not worth it. Instead I get on a bike trail and go 10 miles in the heat. Some days I don’t go that far. But I’m always conscious of the fact that I might not have the energy to make it home. And if I don’t? Too bad. I still have to make it home.

    And along the way I might pass some ‘normal’ people, ones whose joints probably aren’t all in burning pain. Those of us affected will always live with chronic pain, chronic exhaustion, and frequent injuries. Facing this problem head-on has become the only way I can keep from giving into it. Sometimes it’s uphill both ways, and that’s okay.

    Understanding what I’m dealing with has helped arm me against it. The doctors helped me understand it, the physical therapist helped even more because now I’ve taken responsibility for my own health. I spent YEARS letting my health degrade because the MS made it nearly impossible for me to exercise. It’s hard to explain, but accepting that I’ll always be in pain has helped me start embracing it, and using it to make myself stronger. Thank all of you for sharing your stories.

  24. Nancy O'Bannon Says:

    Good questions from Dr. Eytan (& thanks for commenting!). I think social media creates a great opportunity to increase dialogue & information between healthcare providers & patients. Another comment I wanted to make was how important it is for doctors to admit when they don’t have the answers! As most of the zebras on our Inspire site will tell you, a doctor who “thinks” they have EDS knowledge is usually much more dangerous to us, than one that is admittedly unaware, but willing to learn, or refer to someone like a geneticist. I saw FOUR Rhematologists in ten + yrs. The last one knew enough to know that my previous diagnosis was incorrect, but was humble enough to say, “I’m not sure what you have, but I know someone who might be able to figure it out”. She referred me to my beloved geneticist who diagnosed me with EDS during our first appointment. That referral led to the single most important doctor’s appointment of my life…..and there have been MANY!

  25. |Pollyanna Says:

    To my eternal parenting and professional Physiotherapy embaressment it took me 14 yrs to take a long hard professional look at my own dtr now aged 15 and for the cogs to connect….. GP stared at me in incredulous disbelief at my theory she had EDS with POTS and only referred her to a paediatrician to re-assure me there was nothing wriong with her. Paediatrician confirmed my suspicions and referred her to Guy’s Hospital genetic clinic for identification of sub type. So even when professionals are trained to look for Zebra’s, our own prejudices can blind us from seeing what is infront of our eyes. learning to look and listen without prejudice is an essential skill as is admitting you dont know but will find out as fast as you can how to help. thank you for posting and raising awareness for all EDS ers

  26. Shani Says:

    Dr. Eytan,

    Thank you so much for taking the time to read Heather’s article and for asking questions.

    As you may know as a “local” doctor, here in Maryland there has been a wonderfully successful effort to make electronic medical records.

    It is very possible this will lead to more individuals to be accurately diagnosed. Patients frequently see different doctors in this medical world of increasing specializing. So a person may see an orthopedic doctor for a problematic shoulder and a GI specialist for their gastroparesis and an opthamologist for a detaching retina. Well, all of these doctors are like the blind men describing the tail, ears, trunk…never realizing it is an elephant. So the digitized records are more likely to illustrate an elephant rather than its disparate parts. The caveat of this is if the medical community is aware of a given condition, such as EDS. A doctor cannot possibly be expected to know about every single illness, disease, injury, genetic condition ect. So the presence of digitized records does not negate the need for doctors to learn about our condition of EDS so they are able to look at those records and put together the puzzle pieces.

    As to the value of social media, I believe it to be an important tool in the arsenal of both doctors and patients. Doctors can learn about more conditions or more about specific conditions through social media. They can also see a plethora of ways different patients with a condition present symptoms and describe those symptoms. The value to the patient is the opportunity, if the doctor takes the time to participate, to learn how to best communicate with doctors and to be able to see how their condition is viewed through a physician’s eyes.

    Finally, I feel the most important aspect with my team of doctors is that I respect every one of my practitioners for their knowledge and experience and they respect me of being the expert of my body. We are teammates in my care, conversing, learning, and developing treatment or management plans together. Physicians who believe the relationship is hierarchal are not welcome. We listen to each other as a true partnership mandates. I did not start out as an expert of Ehlers-Danlos Syndrome nor did my doctors, but we are taking this journey together and learning more continuously.

    Again, thank you for taking the time to ask questions. Heather is away just now, but will respond to your questions as soon as she returns.

  27. Jess Says:

    Thank you Shani, Nancy, Heather ( for the wonderful letter) and all who responded. Dr. Eytan, I would like to see more data on-line for physicians to access. I have EDS Hypermobility, and it took 4 years, a trip to the Mayo Clinic, ( where only part of the puzzle was solved: diagnosed with myofascial pain) and my own research, along with my PT’s and Internists knowledge and willingness to consider something “not as obvious”.

    On-line records where doctors, PT’s and specialists would be great where they can also communicate with each other. I find that when I was seeing X number of specialists, they were not communicating and discussing my case, it was just another visit that was to be a separate problem to be filed. How many times could I have achille’s tendonitis, bursitis, joint dislocations, without all of these separate injuries or illnesses considered separate entities instead of doctors looking at the bigger picture.
    I initially, had acute pain and injuries, when if caught earlier could have lessened the amount of trigger points or tight bands I have, or possibly lessened the amount of symptoms.
    I think that e-mail and accessibility to patients is important, and find it very successful with my physical therapist. I update her with emails, any questions or concerns and she gets back to me in a timely manner.
    I feel, finally, after 4 years, I have a good “team” but also feel that one has to be proactive as a patient, as many of the things you speak of,that can be beneficial, social media, e-mail are not in place quite yet.

    Thank you for your reply, Dr Eytan.
    Sincerely,
    Jessica

  28. Liz C Says:

    This encounter with the geneticist matched mine almost word for word. Suddenly all of my medical dots were connected. After the initial sense of relief that I wasn’t imagining all these oddities, the hard work of accepting and managing the chronic issues of EDS began.

    It is a challenge to find health care providers who are familiar with EDS. Thanks to Heather for such an eloquently written piece, and thanks to Stanford for working to raise providers’ awareness of EDS and other rare diseases.

  29. Shani Says:

    Hello again, Dr. Eytan and any other doctors reading,

    I would like to take exception to the idea that you may ever see 1-2 patients with EDS in your career.

    Dr. Rodney Grahame, a world-reknowned rheumatologist at University College Hospital, London, UK, has frequently stated that EDS is the most underdiagnosed condition in the world of medicine today. Does that sound like you will only see 1-2 patients with this condition in your career?

    As a preface, Benign Joint Hypermobility Syndrome is now seen as indistinguishable from Ehlers-Danlos Syndrome-Hypermobility Type (http://www.ednf.org/images/stories/pdfs_medical/2009_11/2009_Tinkle_AJMG_PartA.pdf)

    Now Dr. Grahame has released findings conducted from a study of all patients that came into his Rheumotology Clinic in London from 2003 to 2005. If you do not have time to read the article, I will summarize: 45% of the people that walked through those doors over three years actually had BJHS/EDS. The most common misdiagnosis is Fibromyalgia, followed by Chronic Fatigue Syndrome, Irritable Bowel Syndrome, and Multiple Scelrosis. (As a side note, there was a recent study that found a group of 88 females with Fibromyalgia, 50% of them actually had EDS.) Here is the article about the study conducted in Dr. Grahame’s Clinic: http://www.thefreelibrary.com/Joint+hypermobility+syndrome+underdiagnosed%3a+in+a+series+of…-a0172645161

    So make a decision as a practitioner to not add to this epidemic of misdiagnoses. If this truly is the most underdiagnosed condition of our time, then you should be seeing hundreds if not thousands of patients with EDS over the course of your career. Familiarize yourself the aspects of EDS appropriate to your specialty (http://www.ednf.org/index.php?option=com_content&task=view&id=1175&Itemid=88889260) and feel pride in turning the tide.

    I sincerely appreciate any doctor who remembers this condition and takes it into practice with patients.

  30. Ted Eytan MD Says:

    Hello again, and please, call me “Ted” – The Inspire Team knows that in my patient centered-ness I am uncomfortable being called “Dr.”

    Thank you so much for your replies, they reinforce each other, where Nancy says, “how it is for doctors to admit when they don’t have the answers!” and then Shani, you point out that it’s not true that a physician will only see 1-2 patients with EDS in their careers.

    It’s the perfect time to say, “I admit I don’t have the answers” and “I want to learn more about you, because you are the expert of your body,” as Shani said.

    I completely agree. Physicians in my generation trained in the era of HIV/AIDS where we learned that it would never be possible for us to be the experts of their bodies, or even of the medical care we were learning about. I also trained in family medicine, which is one of the newest medical specialties, with a focus on understanding people and health environment around them – “a good family doctor knows what they don’t know.” I’ve written a lot about this in my blog (self titled, http://www.tedeytan.com)

    This is exchange is an example of the benefit of social media in many ways – connecting physicians to better information about patients’ health that they might not get in an exam room, even from patients they don’t take care of themselves.

    I notice, Jessica, that you say you are corresponding with your physical therapist over e-mail – is your doctor also available that way?

    I ask about these things because I feel these types of healthy exchanges will happen more often if doctors can “listen” in more ways – it could be a forum like this, it could be a twitter stream, but it could also be an e-mail from their patient a few days later, saying, “you know, I have more questions, because things aren’t getting better.” The physician can assist this by letting patients know, “I know a lot about medicine but I am just learning about you and I want each of us to know what the other does. Please let me know how you’re doing in 1-2-3-4-10 days or if you have other ideas. I don’t know what’s causing this for you; I don know that we want to understand it better.”

    Something like that…

    One last link – I gave an “Ignite” (20 slides in 5 minutes) presentation about listening in health care – it’s here at

    http://www.tedeytan.com/2011/11/17/9413

    Comments welcome, thank you for allowing me to participate, thanks Team Inspire for the referral, and for all of your support in changing the medical profession, it’s what we came here to do,

    Ted

  31. Ted Eytan MD Says:

    Oh one more thing…I wanted to be explicit in response to your statement, Shani – exception accepted and warmly welcomed :), thank you for improving my knowledge,

    Ted

  32. Kelsie Says:

    Thank you Heather or validating the herd and turning up the volume for more to hear our hoofbeats…

    Thank you again

  33. Increation Says:

    Thank you for getting this information out to the medical community. I have not been officially diagnosed yet and just beginning the family history journey, but when I developed a Spontaneous CereobrospinalFluid Leak, I was misdiagnosed by three medical professionals, one in the ER. My PCP, who is wonderful, sent me to a Neurologist who diagnosed my leak and I am still working on getting it repaired. I will be heading to Stanford in August and to a Genetcist in Portland, Oregon also in August. I had no idea the problems I have had and the new problems which began in 2011 could be genetically caused. The leak led me to EDS where I read for the first time, my life history. I do not fit in the EDS medical journal box either and my Rheumatologist refused to listen to me or read my medical history which I put together after spending hours on PUBMED researching at the request of my Neurologist. My family is showing two different zebras and I hope to get confirmation soon. My PCP has already started treating me because she knows me and believes this is what I may have. Thank you so much for what you are doing and I hope to also help inform the medical community in my area once I am up and mobile again. Blessings to you and your family and all those with EDS.

  34. Tracy Says:

    Heather – Thank you so much for this article. You have written a wonderful piece, with clarity and grace, and have helped educate so many people by sharing your story! I hope others will learn from your journey. It shouldn’t be as hard as it is, but it is information like this that can help spread the word.

  35. Tracy Says:

    Dr. Eytan/Ted – You ask some very interesting questions. My son is 12, and was diagnosed with EDS when he was 7. I happen to live in an area with a connective tissue disorder clinic, and when he was 6 I emailed them to find out when a child would be evaluated if there was just a suspicion of a connective tissue disorder (I did not relate all of the characteristics that he had; I knew they couldn’t diagnose in email). I was concerned because some of the things I was noticing , but it also seemed through my cursory research that many times issues didn’t manifest until adolescence so I expected them to tell me to wait until he was 12 or so. I was very surprised that they responded back within 24 hours, with very thorough answers to my questions, including suggesting a baseline evaluation.

    While we did get an evaluation (though the pediatrician didn’t really want to give the referral), the times when we have heard “it’s growing pains” (throughout the years, with multiple doctors, before and after diagnosis) have already begun to wear negatively on my son, though I’ve tried to keep it positive and tell him he has to clearly communicate to the physicians we see, and that some doctors don’t know a lot about EDS, so we have to help them learn more. The diagnosis made times when he had pain, joint, or fatigue issues a little easier to deal with since as a parent I wasn’t dealing with a complete unknown. It doesn’t change the fact if he subluxes a rib or a shoulder, or is suddenly at a no-energy moment for no apparent reason, but it does make it a little easier to understand.

    I have been able to email my son’s geneticist to update when there was a joint issue, and tell about our next steps after traditional physical therapy didn’t work, and he responded agreeing to our plan, so that has been reassuring. Also, my son’s PT was available to answer a question on email even when he wasn’t seeing her anymore, and that was also a positive. Right now, in the children’s hospital he goes to, all of his records are electronic and each doctor has access (pain management, physician, PT, genetics, ophthalmologist etc.). Even with that, doctors who don’t know much about EDS (such as the few orthopedic doctors we’ve come in contact with, among others) don’t have much more to offer if there isn’t a traditional resolution of an issue, which just means that there is a lot more education that needs to take place. And, doctors outside this network (pediatrician, dentist, etc.) don’t have that extra knowledge that the electronic network at the children’s hospital has and frankly it’s a constant discussion in my brain whether or not to stick with someone who doesn’t have a lot of knowledge about the disorder, and hope that they want to stick with us and learn more, or to just try to find another doctor who has more patients with EDS, which narrows the opportunity to spread the network of knowledge.

    I also agree with Shani – EDS is not a condition that is as rare as the medical books make it out to be (we’ve had more than one doctor become condescending and dismissive, saying “EDS is rare” –even after the diagnosis). Considering that Classical-EDS and Hypermobility-EDS are autosomal dominant there is probably a much larger population out there, as Shani pointed out that research is now starting to reflect. Granted, because the issues that each person can have can vary greatly, even within a family, it’s not the first thing a doctor might look for when a child/teen/adult comes in for multiple complaints that seem unrelated. Pain, though well documented as a large issue with EDS, is not considered a factor for EDS by many doctors, though it is a common complaint among those who are affected by EDS. It’s the extreme stretchiness and extreme contortions that are rare, but that’s what doctors focus on as the “hallmark” of whether someone has EDS or not.

    Forums have several purposes for people with medical conditions (a sense of others finally “getting it” being a big part, as well as sharing and receiving information), and I understand why doctors may hesitate to visit them, but overall, I think a doctor could use forums, if not to directly connect with patients (which might get tricky), but to learn about and understand the manifestations of this disorder (as well as other disorders). A doctor only has so much time – and we all know that. Forums can be a way for a quick path to understanding, even if it means getting a little bit of information, and then going on to other resources. I think the greatest take-away from people who share their journey about being diagnosed with an unfamiliar disorder (whether it be EDS or something else) is that the patient really does want to be taken seriously by the doctor and not blown off. A doctor can thank a person for the pages brought in from the Internet, or the history a patient brings in, and tell the patient that the information will be reviewed (and actually review it), and can still deal with the issue of the moment for the time allotted appointment, and there is a least a feeling that the doctor and patient are working together. I know there are a lot of doctors who do work this way, but unfortunately, for many people it takes a long time to find one that does.

  36. Increation Says:

    Dr. Eytan,

    I recently experienced the positive effects of the electronic records system sharing information with doctors treating the same patient. The system I experienced, followed the patient so every doctor the patient sees, gets reports on what was done at each visit with each physician. I think it is wonderful!! For me personally, my battle has unfortunately been the doctors who are unwilling to learn, listen, explore, or believe me. I have even been judged my one female rheumy, I assume, by the way I look. I work in Mental Health and I am aware that even doctors can bring their own personal issues to work with them which can ultimately affect the patient. So, I wonder why these doctors are even in the medical profession to begin with. My Rhuemy, who I fired recently, refused to even look at my medical history except to nit pick and pull out individual sxs which he proceeded to minimize instead of looking at the whole picture which screams loud and clear what is wrong with me. I am all for electronic medical records and anything that will improve the healthcare system without overwhelming the medical professionals. But how to make a doctor WANT to learn or want to care or want to look outside the box? That is my question. Thank you so much for being one who cares and actually posting on this article. We need doctors like you.

  37. Sanj Says:

    This is a great discussion. Ted, I like that shared electronic records make it possible for practitioners to see the whole picture, but sometimes they also allow one doc’s poisonous comments to pollute the views of the rest of the caregivers. We’re not really safe until all medical care providers agree to uphold their vows to do no harm – which should mean a commitment to learning about the diseases that their clients have, and refraining from attack.

  38. Tracy Says:

    Ted, I’d have to agree with Sanj.

    One of the orthos I spoke about took it upon himself to “undiagnose” my son. We were there for a base-line xray/evaluation for slight scoliosis, which I repeated many times during the evaluation, as residents and interns both were involved and did pre-evaluation, etc. before doctor arrived. All, including the doctor, told me EDS was “rare” – that my son had benign joint hypermobility syndrome (as they bent him in ways I had never seen before), and then the doctor told swept his had, saying “I don’t care what those doctors in genetics say.” (this was in the same children’s hospital). It was his opinion that if a child had pain that was not consistent or did not have hot/inflamed joints, then it was “all made up” — no matter that my son had been waking at night several times a month for years – in tears – even before he could talk. His report, which I happened to read later when I changed pediatricians, totally denounced the EDS diagnosis, which confused the new pediatrician (this was about 2 years later, and I had to explain the situation to her – in front of my son, too). The ortho treated the appointment as a “second opinion” (and said as much in his report), though I told him repeatedly the purpose of our appointment. I’m all for second opinions, when warranted, but this was just very odd to me, and unfortunately was not the best experience for my son, either.

  39. Heather Pierce Says:

    Thank you all for connecting with my story! Each comment and story you have shared shows the courage of people with EDS and why I am so grateful for a community of supportive and resilient friends! Last week, I was in rural Vermont, away from technology, visiting family and enjoying a different pace of life. To come back to such a warm response is wonderful! Thank you also to Inspire and Scope for this privilege and an unique opportunity to increase awareness of Ehlers- Danlos Syndrome!

  40. Heather Pierce Says:

    Hi Ted!  

    Even though so many have responded so well to your questions, I just wanted to share my thoughts as well:

    My new doctor does seem to follow many of the practices you are advocating in your blog, including emailing test results and answering questions via email.  And although none of my specialists do, I think having a PCP who does makes a huge difference in my overall quality of care.  Patient-centered medicine creates partnerships that are especially important when dealing with a disease as complicated as EDS.  I feel less at the mercy of the tides of EDS and the healthcare system with a doctor who listens, collaborates and then advises.  

    I believe 14 years in misdiagnosis for me was not just because of limited listening opportunities, but a combination of lack of awareness of EDS and lack of trust by those examining me.  I looked young and healthy, and presented positively even when in high amounts of pain.  When I told doctors I felt my joints move in certain ways, I was told that it wasn’t possible.  My fluctuating blood pressure and GI symptoms were seen as evidence of my inability to handle stress and pointed to poor coping skills.  My descriptions of pain were too broad, irregular, and the severity not backed up by MRIs.  And the label of Fibromyalgia reinforced a high-maintenance and over-sensitive patient to many doctors.  Eventually, my symptoms evolved to a point that it was obvious something more was going on and thankfully, I had a doctor able to identify EDS.

    Identifying zebras not only takes increasing listening opportunities, it takes a willingness to truly listen to the patient and a trust in their ability to be partners in their own care.  It takes a humbleness to admit what isn’t known and a dedication to continue to consider new options that would otherwise slip through the cracks (even ones found on google searches).  I love your partnership description in which the doctor brings the knowledge of medicine, while the patient brings the knowledge of her body. I have had those experiences and they have led to my best care.  Unfortunately, they are not the standard of care yet.  So glad for doctors such as you who are working to change that!  

    I am very encouraged by the potential social media/networking creates to connect both practitioners and patients in a variety of ways.  My own significant improvements are the result of connecting with others with EDS, initially through social networking.  Not only have I found understanding and validation; I have been referred to excellent doctors, been given numerous treatment ideas and creative tips to functionally improve my life.  Being connected with a community of people with EDS is a priceless opportunity that social networking has made possible.  And thanks to Inspire and Scope, has also provided me with an opportunity to share my experience as a learning opportunity for others. 
       
    Thanks for your response and for your work on improving patient care!

  41. Amy Gleason Says:

    Excellent article! Thanks for your story. My daughter was diagnosed with a rare disease, and it also was a difficult journey to get there and sometimes remains one even now. I also agree that sharing that information across providers is very important, but it must be accurate. Often data shared is not accurate which can cause even more problems. Patients need to be validating the information that is being shared.

    Thanks again! Zebras are important and need more attention.

  42. Catarina Dahl Says:

    Thank you, Heather, just thanks…for sharing your knowledge ´n´ embodied zebra experiences and stripes of “drs.horses”. I feel much some of that as well.
    Best regards,

  43. cyntia Lee Says:

    This article serves as a huge boon to those of us who have spent years searching and being called hypochondriacs etc. We have been told ware lazy, etc. Thank you for publishing this as it puts credence to what we have been looking for for years!! I would like to see genetics break out of the mold that only certain things show HEDS. Some of us don’t have the skin issues, etc. zebras strips are different in each animal!

  44. Jennifer Greenbaum Says:

    Thank you Heather for your courage and strength. I have now lived with EDS for many years. I was diagnosed with it about 7 years ago. Throughout my life I have been shunned by my friends and my family, as I was labeled as a hypochondriac. In fact, my own brother, who is a physician, did not really have any empathy for my debilitation. Even today, I don’t think my family truly appreciates or understands the disease. I was quite depressed until I met a really optimistic primary care physician who specializes in women’s health in the portland,oregon area. She help me focus on LIVING with EDS and concentrating on LIVING a normal life. That is, I realized that if my own brother who i was so close does not empathize, then who would. The reality is that the world is not going to ever understand our disease despite how much education is out there. Those with EDS are the only ones who understand. To this end, I have made it a point to overcome my pain and turn my symptoms into my strengths. Now, I am at the point where I ride my bike 3 times a week, swim in the ocean, run with my kids and go kayaking with my husband. I have come to a junction now that I feel that I am in control of my symptoms and not the reverse. I have a greater relationship with my kids and husband now. In the event my kids are diagnosed with the disease, I am stronger and more prepared to teach them to overcome it too. I commend you Heather for your strength to educate this cruel world as we are often treated as strange zebras. The fact is, many people live with illness. But it is people like you Heather that inspire us to define our lives, not by our illness, but our strengths.

  45. Jen Greenbaum Says:

    Thank you Heather for your courage and strength. I have now lived with EDS for many years. I was diagnosed with it about 7 years ago. Throughout my life I have been shunned by my friends and my family, as I was labeled as a hypochondriac. In fact, my own brother, who is a physician, did not really have any empathy for my debilitation. Even today, I don’t think my family truly appreciates or understands the disease. I was quite depressed until I met a really optimistic primary care physician who specializes in women’s health in the portland,oregon area. She help me focus on LIVING with EDS and concentrating on LIVING a normal life. That is, I realized that if my own brother who i was so close does not empathize, then who would. The reality is that the world is not going to ever understand our disease despite how much education is out there. Those with EDS are the only ones who understand. To this end, I have made it a point to overcome my pain and turn my symptoms into my strengths. Now, I am at the point where I ride my bike 3 times a week, swim in the ocean, run with my kids and go kayaking with my husband. I have come to a junction now that I feel that I am in control of my symptoms and not the reverse. I have a greater relationship with my kids and husband now. In the event my kids are diagnosed with the disease, I am stronger and more prepared to teach them to overcome it too. I commend you Heather for your strength to educate this cruel world as we are often treated as strange zebras. The fact is, many people live with illness. But it is people like you Heather that inspire us to define our lives, not by our illness, but our strengths.

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