Ehlers-Danlos syndrome: A mystery solved

Laura Kiesel
Laura Kiesel, Contributor

I have always been accident-prone. It wasn’t unusual for me to suddenly lose my balance while walking down an even-paved path as though someone had slid a banana peel in front of me. I’d slam down hard on the ground, skinning knees and elbows. I once fell off a boardwalk on my bike into a swamp, my body casting an impressive outline in the reeds — like a cartoon character who has run through a wall. My body was often a landscape of bruises and scabs, while most of my dishes were doomed to break at some point, causing consternation among my roommates. The dishes were just some of the casualties of my clumsiness, for which I was sometimes scorned and scolded by teachers, parents, and boyfriends.

But I never connected this clumsiness to how my joints and tendons seemed as fragile as the glassware I sometimes shattered: ankles that twisted and sprained at the slightest misstep; wrists wrecked and inflamed for years from the first few attempts at downward dog during an introductory yoga class; a jaw that partially dislocated from the simple act of chewing on a tortilla chip. These incidences became less rare and more routine as time wore on, as well as more severe.

About six years ago, after helping a then-boyfriend move a couch up the three stories to our apartment, I could not get out of bed for a solid week. The discs in my back simply gave out, like a box of jelly donuts someone sat on. I remember my ex telling me even his mother could have accomplished such a simple task without injury, but I could not. This kind of disapproval about my body and its idiosyncrasies now lends itself to automatic distancing on my part. If I meet someone who is critical about my physical shortcomings, I expect to not speak with them again.

Clues to the reason for my clumsiness

In more recent years, my body was besieged by an incessant, widespread, bone-deep aching pain. In particular, my sacrum and hips felt as if they had been infused with bits of broken glass that ground against me as I walked and rubbed my soft tissue raw with too much sitting. Imaging results revealed a large labral tear in my left hip, and a spine riddled with busted disks and cysts swollen with spinal fluid. Physical therapists always asked what accident I’d had or which aggressive sports I partook in to sustain so many injuries, but I could only shrug and say there was no reason I could ascertain, that life was simply taking its toll on me — albeit a heavier one that it seemed to be taking on most others, and at an earlier age than many experience.

The mystery solved

This is why it was enormous validation when I finally visited a geneticist earlier this year, who revealed after a thorough two-hour evaluation that I had Type III of a rare connective tissue disorder known as Ehlers-Danlos syndrome, or EDS. EDS is characterized by hypermobile joints and a deficiency in collagen (connective tissue) that results in pain and repeated injury. Not only does this diagnosis account for my clumsiness and much of the bodily damage I have accrued over the years, it also helps explain some of my migraines and the frequent rashes on my skin, the trouble I have regulating my body temperature, and my bowel and bladder problems.

While I was relieved at the diagnosis, I was also resentful. I have been pestering doctors for the past few years about my chronic and often disabling pain. My geneticist told me that it often takes an average of 10 to 20 years to receive a diagnosis of EDS, with many people not receiving an accurate diagnosis until well into their 40s. As with many medical conditions, EDS disproportionately impacts women. This may account for the delay in getting a proper diagnosis and treatment, as studies have repeatedly shown the medical community is not as educated on — and therefore much more likely to misdiagnose and disregard — health issues that impact women. My geneticist told me many of the women she had diagnosed had at some point attempted suicide to achieve an end to their suffering, both the physical suffering from the disorder and the emotional suffering of having their pain ignored and even questioned for years or decades.

Now that I do finally have a proper diagnosis, I have taken the initiative needed to better manage the disorder and its symptoms, including avoiding certain activities and implementing aids to stabilize and protect my joints.

As EDS is not a widely understood or known disease, my greatest hope is that my experience can offer a guide to other patients who suspect that there is more than meets the eye when it comes to their chronic pain. I also want to spread awareness among the medical community, not only about EDS, but also that just because a diagnosis is not easily apparent, does not mean there isn’t one. Doctors owe their patients their curiosity and support, because the consequences for those patients left behind can be severe.

Related Information: Harvard Health Letter

Comments:

  1. sylvia Von

    My bodyworker suggested that I had ED years ago and I brought it up with my Dr. (Internal Specialist). All he did was test at my wrist to see if my finger would touch my arm. They didn’t. I took the 23andme test out of curiosity and it showed one marker for each of the COL5A1 rs numbers. Classical ED. The symptoms match what I’ve had since childhood, just not the extreme version other people have. Neck, ribs, hip easily get out of place. I think 23andme gives accurate gene results, but it may take someone else to interpret them. Either way, there’s nothing you can do to replace missing collagen. Recommendations are pain medication and joint strengthening; don’t lift heavy weights.

    • Sylvia Von

      Has anyone tried prolotherapy for joint hypermobility? I made an appointment with a Dr. who specialized in this procedure to see if it would help stabilize ribs and decrease back pain. He thought it would help, but also said that I am so thin he was afraid some of the fluid might get into my lungs. That didn’t sound good.

  2. Jen R

    Excellent piece. However, as there is no genetic test for EDS III, diagnosis will remain elusive for most people affected by it. I was shrugged off by doctors for 43 years until a keen clinician asked me the right questions and did the right examination — sure enough, I have VEDS, one of the most rare, and arguably the most dangerous type of EDS. The doctor said it was a miracle I had lived as long as I did without diagnosis, seeing as the average life expectancy is 50 years. Until then, we will just be doing “circus tricks” for residents and physical therapists will shrug their shoulders as to why we can’t make progress.

  3. BabyBoomerWriter

    So glad there was a diagnosis to confirm the symptoms and lead Laura to better management. What stands out for me is the process of figuring out what was wrong. For the most part, it relied on the patient’s dogged pursuit of answers, not once did she find a physician willing to take the time to research!

    After hearing about the multiple ways in which this illness was bombarding the patient’s body, you would have expected someone to contact their former medical school or local medical schools and ask for help in diagnosing this rare condition. Each doctor she saw missed a rare opportunity to improve this patient’s quality of life. Why?

    • Laura Kiesel

      I think one of the things that stood in the way of me getting a diagnosis was the emphasis of specialized medicine for different symptoms as opposed to looking at the body holistically. For my GI issues, I was referred to and examined by a gastroenterologist. For my bladder issues, a urogynecologist. For my skin rashes, a dermatologist. For my joint pain, a rheumatologist. For my hip problems, a physiatrist who focuses on hips. For my back and neck pain, a spinal specialist. So everything, a different doctor, for which the other ailments/symptoms were out of the purview. Which is why I think it’s important for more internal medicine/GP docs and PCPs to have EDS and other disorders that can act as an umbrella to a whole host of ailments, on their radar.

  4. Arlene Palmieri

    Excellent synopsis! I am just a barrel of laughs with predicuments that I get into. The added diagnosis of Charcot Maria Tooth…uggg.

  5. Caryn Testa

    This is a great article, thank you for sharing. So many symptoms it’s a relief to finally have the dots connected and to see that others have also had a similar journey. I’m coaching doctors, digging into support groups and willing to fly anywhere. I do not want my children to suffer like I have. Whatever it takes let’s keep the awareness growing! Thank you!

  6. Robin

    Thank you to all of you who have the bravery to express your thoughts regarding EDS. I was fortunate enough to be diagnosed at the age of 33. I am 51 years old and completed my second surgery for prolapsed pelvic. I am now in physical therapy to ensure I am getting the proper treatment. My doctors are great, however I feel they don’t understand how this diagnosis has caused many of the problems I’m suffering with. When I have dental work, a local anesthetic basically does not work, try explaining this to a dentist who is looking back at you with a contorted face. This is not a made up diagnosis. I feel often EDS is being dismissed. At least I know I’m not alone. It feels as though no one hears me. I highly recommend anyone who suffers with this diagnosis sees a Doctor who understands the repercussions of this disorder. Don’t hesitate to educate your doctor if they don’t quite understand your concerns. For those of you who want to give up, please know your story can help others. Don’t give up!

    • Allison

      Robin. You write the words that tumble out of my mouth so often!! The moment you see the look on the doctor, dentist, PT or even a triage nurse that we recognize as they have no idea what you said you have is, honestly makes me crumble. Or the one off that actually says, How do you spell that? I want to Google it before we proceed is like the heavens opening up!!
      Keep up the brave fight wonky gene sister! 💛

    • Laurie Brown

      Lidocaine doesn’t work on a segment of EDSers. Thankfully, other locals do.

  7. Bianca Prasada Best MD

    Your story could have been mine. I was only diagnosed with EDS after 40 years of clumsiness dislocations bladder bowel problems and lots of other problems like autonomic dysfunction which means I don’t sweat and can’t regulate temperature and blood pressure. The list is endless and having been to the Royal Orthopaedic pain course for EDS patients last year really helped. I now excercise regularly and work on accepting and telling as many people about EDS to raise there awareness.

  8. TaraMundo

    I’ve seen 21 specialists and was told something else was wrong at each appointment until I saw my eye Dr. They never believed me when I’d say they’re missing something and begged them to connect the dots. My sight got better. Only happens with EDS. 😉

    • Linda Johnson

      Thank you TaraMundo for sharing that! My husband and I both have eye appointments with a neurological eye doctor in October and I just can’t wait to find out what she notices. Connecting the dots is truly an amazing thing to have happen and sadly it takes so long. Along my journey, I discovered a wonderful resource when referring to use natural wellness support so that the body doesn’t have more side effects to deal with. The last 5 – 10 years has been a life changing journey for me and I am so blessed, yet I still have not seen a geneticist to rule out EDS. My pelvic PT brought it up in my first hour when I met her this spring and unfortunately there’s a 12 to 14 month wait in my area to see an EDS geneticist. (I’m mostly concerned for my young adult daughter.) I was sure hoping my medical deductible could’ve been met in one year and actually get those other things covered. Perhaps my $7,000 (or whatever it is) deductible could be met if we were able to count the non-traditional/non-synthetic carbon-based natural medicines and foods that we use to best support our bodies, eh? Insurance hasn’t ever really benefited me and my family. Continued blessings with your wellness journey, Tara!

      • Caryn Testa

        Hi Linda, what do you mean by “natural wellness?”
        Thx
        Caryn

      • Racheal

        My vision got better too. I have a box of contacts in my cabinet that do not expire until 2018. Bought them four years ago, right before my eye appointment, where my optometrist told me that my vision improved! Only answer given, was that it sometimes happens at my age. 34, at the time. Now 38 and still no need for glasses or contacts. Sometimes I’ll use them for night driving. I didn’t know that this was EDS related? Where you given an answer as to why? I also get extreme dry eye. The ducts do not produce enough oil. So, many things are affected by EDS. I found this article very relatable. I could have written this myself!

  9. Collette

    I rarely ever comment on articles, however this time I felt I had to. I’m part of an online community for eds sufferers, but almost everything you wrote I have and do experience, it was like I was reading about myself. My husband found me rereading this, nearly sobbing, that you KNOW how it is for me. I have no one in my area that gets it, and the nearest support group is nearly 60 miles away. If ever you want to commiserate, give me an email (if you can access it).

  10. JohnP

    I am a guy, 58, who has EDS and so do my two daughters. I am convinced it came from my father’s side of the family as my mother and her sisters and her mother had no evidence of any symptoms. I think this genetic path needs further research.

    My father had a failed mitral valve, which was replaced then died shortly after from a brain aneurism. I have same mitral valve issue but i doubt I will have surgery. Have had joint issues all my life.

    Not sure if its related to EDS but tinnitus seems to run in my family, from father’s side, as well.

    EDS is complicated stuff, if only due to its subtleties, which makes it hard for doctors to “connect the dots.” And since a “pill” can’t cure it, few can be concerned enough to “try and want to care.”

    So, thank you Harvard for wanting to participate in solving this mystery.

    • JohnP

      Almost forgot… I think some vision issues are of EDS “origin,” specifically those related to muscular control of the eyes. A red flag is need for prism. This too needs further investigation.

  11. Melissa

    I got teary eyed reading this. Sometimes I can’t believe there are so many of us out there but until the last few years I felt so alone. I’m so grateful to not be alone anymore. My EDS support groups saved my sanity. Article’s like this reminds me I’m not alone or crazy.

  12. Kathy Zyrlis

    Great article! Really resonated with me as I have used the ground glass description to explain the pain and I have always been terribly clumsy as well.

  13. Kim R

    Thank you Laura for sharing your story. My heart aches for you and my daughter and everyone else with EDS that were discounted for so long. I make sure every provider I talk to hears about the all too obvious signs and symptoms. I even went back to all of my daughters childhood providers and spoke with them, not to blame, but to possibly save the next EDS kid they see from the same looooong journey. God Bless!

  14. John McGrath

    I understand your frustration regarding your diagnosis, but please don’t jump to an emotional conclusion regarding the medical community and gender bias. I have a close family relative (male) who was recently, at the age of 62, FINALLY diagnosed with EDS. It is a pretty rare disease and very difficult to diagnose. It is frustrating for most patients because, until cheap genetic testing, it was extremely difficult to determine a diagnosis quickly and with any certainty. The people that treat you are highly dedicated to curing EDS. Lets not shoot the warriors.

  15. Jayne Jessop

    Just found out first cousin on husband’s side had positive result for genetic marker COL1A. Our 24 year-old daughter has had episodes throughout her life where something flares, we try to figure it out, symptoms lessen, shoulders are shrugged and we go on. In the past 4 years my daughter has been diagnosed with fibroadenomas of the breast, Hashimito’s thyroiditis, and atypical PCOS. In March started with strange symptoms in her left thigh. Swelling above the knee, pressure, pain, lack of coordination, feeling a deep pain/feeling of a “rock” in her leg, incredible fatigue. She had an episode of erythema multiforme in 2012, cause never actually determined for sure. She suffers with skin issues as well. Switched primary care doc in May. Just had MRI of cervical and lumbar spine come back with “changes” (disc related I think), for which they want to have her take Gabapentin. Going to pass on that. Benefit to risk not worth it to her at this time. Thank you all for sharing your histories. I think we might be on to something here. Sending in her 23and me sample today! Any doctors out there, listen to and work with your patients. It is not a contest. I just want my child to be able to get on with her life. I have worked in pharmacy for 35 years and our previous Dr. told me I was not qualified to look anything up on-line regarding medical issues. A mother is qualified to do whatever she has to to help her child.

    • Lori Fowler

      Get a referral to a geneticist, forget 23 and me. Seek care and referral to a physician who is knowledgeable regarding EDS and related co existing conditions. I was recently diagnosed with EDS and co existing conditions at 50 after Chiari and intracranial hypertension entered my life. There is help, best wishes for your daughter.

    • MissMagic

      23andMe cannot diagnose or even give the slightest clue as to whether you have any of the Ehlers-Danlos Syndromes.
      “COL1A” isn’t even a complete gene reference. COL1A what? 1? 2? 3? 5? and its even more complicated than just seeing “a mutation” on a gene, its specific mutations at specific points on that gene that can do specific things. Mutations on the same collagen gene might produce Osteogenesis Imperfecta of several types, Ehlers-Danlos classical type or Ehlers-Danlos arthrochalasia type.
      There isn’t even a gene known as yet for the most common type. Please see a geneticist!

  16. Donna

    It is encouraging to see this blog on a Harvard site since Boston hospitals have unfortunately been behind the curve in recognizing and properly treating children with EDS and its many co-morbid conditions. The number of young women with eds-related gastroparesis in our support group that were forced into eating disorder programs and treated as anorexics is a real tragedy. Thank you for writing this blog and sharing your experience. Awareness and education is the best way to improve access to effective treatments. Something the EDS community desperately needs.

  17. victoria

    Will Harvard begin to provide more information to medical students so that they are aware and able to diagnose Ehlers-Danlos? As far as I can tell the only thing rare about it is getting diagnosed. That old saying about hoofbeats are horses not zebras, caused my diagnosis to take 40 years. This is a complete failure by medical schools.

    • MissMagic

      Hopefully the recently published 2017 diagnostic criteria will help more doctors give a diagnosis confidently.

      • Kay W.

        This will not be the case at ALL…the new criteria are awful, and have been rejected by many professionals in the field. They were created, and are being PUSHED, by the Ehlers-Danlos Society, a shady “patient advocacy” group. As many as 85-90% of previous hEDS patients will lose dx to the nonsensical “HSD” diagnosis based on these new criteria.

        They claim that the criteria are so rigid because they want to “find the gene,” but picked COMPLETELY random criteria, excluding most hEDS patients (though strangely, NOT excluded was their co-executive director, who is a CO-AUTHOR on the study, despite having no medical background…conflict of interest, much??). Classification (or research-level) criteria are meant to help find genes, while diagnostic criteria, which are looser, are what are typically used in these circumstances.

        Yet no diagnostic criteria were released, nor proof for how or why they chose to include certain criteria (that are more Marfan related), and not others (which have been associated with EDS for YEARS). They also did some MAJOR back-tracking on their understanding of the fact that those with hEDS stiffen with age, and stated to say that hEDS was OVERdiagnosed, instead of UNDERdiagnosed!!

        At their conference in 2016, they talked about not having people suffer from losing the name recognition that EDS finally started to attain (but they did this anyway, with their “HSD” dx), and about how the Beighton score that is used to measure hEDS was too limited (but then went on to use that exact same system, UNCHANGED, as the main basis for diagnosis).

        If you are looking to help share information, or just break a large genetic scandal story, Harvard, just try looking into the new Classification Criteria, how they were formed behind closed doors, how many walked out and chose not to participate, and how many have been protesting these criteria. Have your people peer-review the study, and ask why a hEDS patient (with no medical training!), with a STRONG VESTED INTEREST in keeping her dx (as the “face of EDS” for the Society) was allowed to be a co-author, and why she has so much power in that organization. She is even on the “steering committee” that reviewed what was being released!!

        Someone needs to break this story, and fast – people are ALREADY losing diagnoses. All of this is, disgustingly, to make EDS seem more rare, and to help the Society gain more “rare disease funding,” and to lend more prestige to their doctors, and that very same co-executive director.

  18. Hannah @Sunshine and Spoons

    Thank you for helping to raise awareness of EDS!! All 4 of my children and I have it and while they have all been diagnosed as kids, I waited 30 years for a diagnosis and spent that time thinking I was a a huge wimp. I am now working hard to raise awareness for EDS both for my kids and for others who are looking for answers to their seemingly random health problems.

    • Avril B

      I’m sorry all your kids have EDS but at least they’re diagnosed which is Kudos to you and your Doctors. Like you I’m now seeking diagnosis, after my daughter was diagnosed in London UK aged 16 following a lifetime of pain symptoms. Then a further diagnosis as a young adult by Prof Rodney Graham UCLH London.

      I was called an over anxious mother at first, then she was told it was a psychosomatic illness. All in her mind!
      I’ve also spent a lifetime of feeling a wimp, I have a bewildering myriad of symptoms and I just got on with it best I could. But now over 60 and facing far more daily pains than I should.
      They’ve diagnosed osteoarthritis (30yrs) ago extensively, fibromyalgia years ago. I was even told to look up help on the internet for Fibro!! I didn’t think it was such a serious Chronic Fatigue.
      In my late 30’s I also had CFS but of course my GP called it IBS instead, because in the UK they didn’t recognise Chronic Fatigue Syndrome.
      I know I have EDS. Have asked for diagnosis so at least my workplace might understand better.
      Good luck to you and your children, my daughter was better for being more active (gym mostly), but not to do contact sports. She also had to give up study of violin. But is semi okay apart from the myriad of weirdo health conditions. She’s hanging in there. Hope your kids will do too 🙂

  19. Michelle Newton

    I have a mutation that is benign for Vascular EDS and a dx of HEDS. My mutation was passed from my mom and to my daughters. I married a man with a mutation for Classic EDS and his mutation was passed to our youngest daughter whonis deemed a hybrid. Over the course of 8 years I have met several who have EDS yet didn’t know it until I shared and encouraged them to get referred to a specialist.
    I think it is not a rare as once thought.

  20. Delilah Victory

    I have EDS (ultraflexible dancer, double jointed, dislocating hips, translucent skin etc…) in my teens Drs said my stomach flares of cyclic vomiting unable to process food were psychosomatic, in my twenties my heart palpitations due to studies stress and anxiety, and finally my persistent csf leak and spine and brain neuro symptoms following a botched traumatic spinal tap 18 months ago disabling me just “nonexistent”;

    I don’t think EDS is that rare, both my parents have it, and i even had periods of my life with no flares whatsoever, coping with my differences, it’s the ignorance of the medical community putting us at higher risks not acknowledging that EDSers bodies just react differently, (and it’s not psychological or because am a woman or an artist) that is a shame on medicine.

  21. Sara Woody

    Unfortunately it took a spontaneous spinal fluid leak in my spine to not heal to learn I have EDS. Despite four CT Myelograms, 5 blood patches and 2 surgeries, I leak thanks to the damage EDS has done to my dura. I’ve been to the country’s experts. I was so excited to see this in a Harvard blog, but disappointed not to see any science closer to a cure. The genes responsible for EDS need to be identified so we can cure this horrible disease which has stolen life from me at 37.

  22. Larry Leach

    After a lifetime of misdiagnosis and doctors that couldn’t connect all the dots, I was properly diagnosed with Ehlers-Danlos Type 3 or more commonly known as as HEDS and Hyper – POTS. After taking testing with 23andme several years ago and researching online, I came across Ehlers-Danlos Syndrome and Postural Tachycardia Syndrome. The symptoms fit me exactly and I had the sudden realization that I finally had the answer. I joined a local Facebook EDS support group and found both a Cardiologist and Geneticist that were very familiar with EDS and POTS. Both independently clinically diagnosed me and I took the further step of having my full genome tested by GeneDX to rule out any similar conditions like Marfans or Stickler syndrome. Just knowing was a huge relief. Surviving day by day!

  23. Erin Rowland

    Great article! Your experience mirrors my own. If you are having bowel and bladder problems, that could be a sign of tethered chord, all too common in the EDS population… and rashes could be related to mast cell activation. Wishing you (and all of us) the best!

  24. Camille

    Hope you don’t mind me asking, where are the cysts located on your spine? I have suspected EDS, need to get tested official but a neuro friend unofficially tested and speculated I do. I also have csf filled cysts and I have noticed others with this condition almost always have a connective tissue disorder. The dura, part of the spinal cord sheath is made of connective tissue. Wonder if there is a link with the EDS and the cysts…

    • Laura Kiesel

      I have two Tarlov cysts, both in my sacrum, with one on my S3 and the other on my S1–the latter contributing to nerve interference along my right leg on the S1 nerve pathway. I’ve read that Tarlov cysts are much more common among those with EDS than the general population, so finding out I had them was yet another clue I had EDS (the first one being years of injury doctors ascribed at least partially to being “so hypermobile”).

  25. April

    I have heard of Ehlers-Danlos syndrome from autoimmune disease support groups. A lot of autoimmune disease issues occur in clusters, so rarely do you have only one problem. I have yet to find one particular condition that connects all my symptoms, but maybe one day I will, as you did.

  26. Laura Wrede

    Thank you for sharing your story.

    It took 56 years for my diagnosis after a lifetime of illness, injuries, and seemingly random events like an early age stroke, cataracts, and pulmonary embolisms.

    When you have 40 different things wrong and a doctor is forced by an insurance company to spend 10-20 minutes with you, they get a deer-in- the-headlights look when you recite all your problems. They begin thinking “it’s all in her head,” send you to psych and close the door.

    Ehlers Danlos syndromes, of which there are 13 sub-types, are barely beginning to become known by doctors, if at all. 95% of patients don’t even know they have it, according to EDS experts. And most doctors have a vague memory of it mentioned in med school.

    In 2017 an international panel of experts changed the types and EDS type III is now called hypermobile EDS (hEDS) and is the most common of all and often the most painful in musculoskeletal symptoms .

    It’s only through articles like these that get the word out and help the medical community and patients to learn about it.

    Thank you for blogging about it. It takes a degree of courage to share your medical history with the world 🙂

    To find out more about EDS I like to refer people to the site that helped me the most: http://www.chronicpainpartners.com . They have amazing videos and so much helpful information.

  27. Robert Simonoff

    Ehlers Danlos is rarely diagnosed, but I doubt it is rare. Current estimates are that incidence runs about 1 in 2500 to 1 in 5000. I keep meeting more and more people who have the symptoms but need to wait 6-8 months for diagnosis. So many don’t get diagnosed due to insurance issues. Many have POTS and are “double jointed” – I think they should at least explore it. Most doctors don’t know about it so just diagnose women with anxiety, so they just give up the search.

  28. Nancy russo

    I have VEDS and suffering so much with hips and spine and no one helping I’ve hit suicide point. I pray for help daily. My Brigham Drs have been great but pain never ends

    • Janice

      Keep looking for something new. DONT GIVE UP!!!!!THINGS ALWAYS GET BETTER. Yell an scream if u have to but look for help. Don’t to anything perminate.

    • shahed jakir

      You are right. I think so.

    • Anna

      Nancy and Caroline I have been there (and still am sometimes)- please hang in there, and if you haven’t yet heard of it, look up the muldowney protocol and get yourself an appointment at their PT practice, no matter how far it may be from you. My visit to them was priceless, and I am finally on a trajectory that feels like it will end in getting my life back. The best thing about them is that, while they are pts first, they also know tons about all of the related issues that come along with eds and will screen and counsel you on them. The (actual) best part is that you do not need a geneticists diagnosis to go in, only a suspected diagnosis (even if the suspicion is only from you). If you need hope back, please visit them. They have worked with 100s and 100s of eds patients, and they know what they are doing and who they are dealing with. (I have no affiliation with them except for the amazing experience I have had with them). Also, on a seperate note, Johns Hopkins has worked on and is perhaps already using a drug treatment that specifically helps with Veds and the unique challenges that come along with that. There is hope out there, keep your head up and keep advocating for yourself and others.

      • Bernadette

        Anna, can a person even get physical therapy covered or approved to see the Muldowney expert PTs? My insurance requires a referral for everything (their new plan to be rolled out to all plans in 2018). To cross a state line can take four months to get approval and it has to come through a doctor.

        If I were to travel all the way out there can the protocol be done locally at or near one’s home after one visit with them? I have given my PT a copy of the book and we are both reading it. She, like all others, does not understand the finer aspects of the disease. Though she is very open to learning more to help me. I wish we could have a visit and bring our PTs.

        As for hooves… I still have almost three months until I can see a rheumatologist. And I don’t even know if he knows what EDS is. My geneticist appointment is in January 2018 and Dr Clair Francomano’s staff is supposed to call this month to give me an appointment for next July (2018–it has been a 23 month wait to get in to see her–and I have no idea if I can afford to see her.) The geneticist doesn’t even accept insurance. $450 to review documents before first apt. Another $450 for first visit. If I have a thousand dollars where do I get a thousand or two more for likely recommended testing? I even wonder what does getting officially diagnosed mean with no real treatment available. We all can’t move to be near the Muldowney clinic or Francomano’s hospital. With the war on opioids and no alternative pain management option what do Zebras do?

        I have lost absolutely everything and I am tired of having to try and educate doctors, nurses and surgeons who really don’t want to be educated or made aware the condition shouldn’t be taken lightly. It is exhausting.

        I do hope some doctors read this article and at least take some time to educate themselves on the basics. They all need CCUs, is EDS ever an option? A high profile option.

    • Brenda

      Who do you see at Brigham?

  29. Caroline Merkel

    This is totally me. I played sports growing up and was constantly in the Doctors office or ER with splints given to aid in healing for “sprains” and “strains”. I have not yet seen a geneticist. I know what I have. My. Ack and hips and shoulders are toast. I am afraid if I obtain the diagnosis, I will be dismissed as needing these surgeries. I’ve had other diagnosis, which caused MD’s to write me off as a Psycological issue. Good for you!

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