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Harvard Health Blog
Ehlers-Danlos syndrome: A mystery solved
- By Laura Kiesel, Contributor
As a service to our readers, Harvard Health Publishing provides access to our library of archived content. Please note the date of last review or update on all articles. No content on this site, regardless of date, should ever be used as a substitute for direct medical advice from your doctor or other qualified clinician.
Just turned 45 and got the EDS diagnosis. Hypermobile for sure, with heart tests happening this week, which will determine what the geneticist does with the blood work he’s frozen. After a decade in a very physically demanding profession (including coaching for more than 20 years), my body is falling apart in a lot of areas. Still grappling with the diagnosis and mixed emotions of frustration over how all my years of prior injuries and surgeries never lead to an earlier diagnosis. Remembering my younger days (and “growing pains” diagnosis from several doctors) further adds to the despair about how I ended up where I am despite my best attempts to seek care. So I pushed through LOTS of pain and chameleoned my way through the pain each day. I got great at hiding how much I hurt until the last 5 years or so when I felt weak and ashamed for not being as “tough” as I used to be. Friends would say “you never stop” and “listen to your body,” yet when I did both, I wound up at the doctors with “anxiety,” “depression” or given a variety of medications and steroid injections that made things better temporarily, but caused long term damage.
So here I sit alone, managing this on my own. All of the things I used to do taunt me as I can no longer do, yet am surrounded by them in an occupation that is physically and emotionally splintering me. My dreams of traveling and meeting someone special have been replaced by debilitating fatigue and laying on the ground every day after work and all weekend just so I can work. BUT, I will have a better life than I can currently see. I won’t be dismissed by those who don’t understand my invisible illness and I will somehow persevere through this adversity. Life has a way of changing and sometimes I find that the anger/frustration/grief I have from years of misdiagnosis and insinuations of it all being “in my head” push and drive me to LIVE my BEST life remaining.
My new blog URL the old one will not work
Thank you for sharing your story – it literally sounds like my life. I have Ehlers Danlos III.
I have set up a new blog to raise awareness of EDS amongst many other physical and mental health conditions and food allergies. https://battlingbrokenmindsandbrokenbodies.wordpress.com/ Content is based on mine and others conditions. I have not made any EDS posts yet but would love if you could check it out and tell me how to improve etc. I hope you don’t mind me posting the link here. Thank you, Morgan.
Hello fellow EDS’ers/Zebras.
Do a search for Ehlers-Danlos and Low Dose Naltrexone.
Start learning about this discovery. It will eventually come into your life via a blog or a 53 y/o Chicago Zebra like me.
There is a book out about LDN as well.
No pain, no POTS, lots of energy.
My goal is to get the current doctors on the cutting edge of actually providing actual treatment that works.
YES, YES, yes, yes yes yes yes.
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.
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.
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.
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?
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.
Excellent synopsis! I am just a barrel of laughs with predicuments that I get into. The added diagnosis of Charcot Maria Tooth…uggg.
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!
We need u in Arizona….Tucson is home to huge UofA hospital but seems behind in the Auto-Immune INVISIBLE DISEASES as only 1 dr suggested recently I have EDS Hypermobile & in certain I’ve also got POTS & CVS too as I’m a suffering single mom with directions as to help me & my 2 son’s that have same issues plus EGID (which barely recognized here recently as my son was 1st few kids dx here with EGID Not EEG but in lower colon
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!
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! 💛
Lidocaine doesn’t work on a segment of EDSers. Thankfully, other locals do.
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.
Could you please tell me how I would find this Royal Ortheapadic course.
Live in Chicago area
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. 😉
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!
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).
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.
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.
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.
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.
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!
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.
You may have a male relative with EDS, but that does not change the fact that hEDS is much more common among women than men (by a ratio average of 8:1) and that the medical community in turn has a long noted history of overlooking or undermining health issues that tend to disproportionately impact women, as referenced in-depth in the article I hyperlinked in that section. As a health journalist who has been reporting on chronic pain and illness for nearly a decade, and who has often covered it in the context of demographic data, I did not approach my conclusion “emotionally.” However, your post illustrates how gendered stereotypes are often used to silence or dismiss women who attempt to share healthcare experiences, by denying the validity of their claims–even when definitive data supports their assertions.
For more resources on women and chronic illness/pain:
In the future, I’d advise doing some research before dismissing an author’s evidence-based post as “emotional.” Study after study has shown that women’s medical issues are far more likely to be overlooked, mischaracterized, downplayed, and underdiagnosed. This is demonstrably the case with EDS, an illness with nonspecific symptoms that are frequently written off as depression, anxiety, and hypochondria.
Additionally, there are currently no genetic tests available for the most common form of EDS.
Nobody’s arguing that men don’t suffer, too. But get your facts straight next time before jumping in.
Below is a bibliography for your reference.
“Women Hurt More Than Men, Due to Both Biology and Bias”
“Is Medicine’s Gender Bias Killing Young Women?”
“The Girl Who Cried Pain: A Bias Against Women in the Treatment of Pain”
Journal of Law, Medicine & Ethics
“How Doctors Take Women’s Pain Less Seriously”
“Women and the Treatment of Pain”
The New York Times
“Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study”
BMC Musculoskeletal Disorders
I agree with John that the medical community is in the dark but also believe it’s not because they stick their head in the sand (mostly). I heard a doctor that said she saw only one power point and about an hour on EDS during all her medical schooling – she has EDS now and is speaking up on this.
Also, I agree with the ladies (being one myself) that doctors will blame things on female issues. I had both a man and woman doctor tell me it was just hormones! I was having T.I.A.’s at the time – mini stroke if your a man, hormones if your a woman. (eye roll)
Personally I put a lot of the blame on pharmaceutical companies, EDS ppl can’t take meds easily however uneducated doctors tell them they have fibro or something else and you can give the patient all kinds of expensive drugs with a phony dx. Good kickback $ for the doctor, cash cow for the pharm business. EDS ppl pay the price with their bodies for the greed of many that don’t suffer.
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.
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.
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!
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.
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.
Hopefully the recently published 2017 diagnostic criteria will help more doctors give a diagnosis confidently.
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.
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 🙂
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.
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.
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.
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!
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!
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…
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”).
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.
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.
Site looks pretty inactive now. Only 2 comments in August & only a map with location markers but no other info. Is there an alternate site/portal? Thank you.
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.
we have been waiting 8 years finally on a waiting list for geneticist 2018. Ugh!
According to the CDC and NIH it’s still considered a rare disease.
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
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.
You are right. I think so.
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.
Who do you see at Brigham?
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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