I have Ehlers-Danlos Syndrome, the hypermobility type, and started experiencing costochondritis in adulthood.
Raising Awareness About Ehlers-Danlos Syndrome (EDS)
There is no cure for any of the Ehlers-Danlos Syndromes (EDS), but we "zebras" hope to spread the word and help others understand what this condition is and what we experience.
Generally, people aren't bullied or told they are hypochondriacs if they have cancer or heart disease or diabetes. That's because most people are aware of these diseases and the consequences.
But medical practitioners know little to nothing about EDS, and the general public usually has not heard of it.
With awareness comes understanding. And while we hope for a cure someday, right now what we want most is awareness and understanding.
I hope for a day when my daughter's school understands why she can't just push herself harder and harder. And when my other daughter's schoolmates don't make fun of her or tease her for needed crutches one day and not another.
So spread the word—even if you don't have EDS yourself, and even if you don't know anyone who does. Greater awareness helps everyone. Thank you!
How Common is Ehlers-Danlos Syndrome?
If you've never heard of these syndromes, you are hardly alone. They are a group of rare, genetic, connective tissue disorders that few people have heard of and even fewer understand.
There used to be six types, but now 13 distinct types have been identified. The types are quite general (like mine) to very specific centralized in the spine, eyes, or periodontitis.
The disorder occurs in about 1 in 3000 people. I have the hypermobility type (hEDS)—the most common—which occurs in about 1 in 5000 people.
To put that into perspective, Down syndrome occurs in 1 in 733 births, Parkinson's disease is about 1 in 300 people, and 8 in 100 people have some form of diabetes.
Weak Collagen Causes Hypermobile Joints
When people ask me what Ehlers-Danlos Syndrome (EDS) is, I have a hard time coming up with a satisfactory soundbite that won't be too technical but still includes enough information to help them understand what it is. But here goes.
Basically, my body does not produce collagen properly. Collagen is an important part of all tissue in the human body including muscle, skin, nerve, vascular, digestion, tendons, and ligaments. It adds strength.
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Although there are now 13 types of Ehlers-Danlos Syndrome, I have the hypermobility type (hEDS.) So in general, the ligaments and tendons that are supposed to keep my joints stable, don't. Therefore, I sublux (partially dislocate) and dislocate my joints easily. This causes pain and inappropriate wear of the joints which can lead to early osteoarthritis.
This inappropriate use also leads to poor proprioception - meaning my joints, muscles, and nerves have a poor sense of where they are in space and therefore are more likely to move any which way and far beyond where the joints were designed to move. I often bump into walls and furniture as I walk by.
This causes the muscles to do more work stabilizing the joints than they were designed for. This causes overall physical fatigue, often to the point of mimicking Chronic Fatigue Syndrome. In addition, as the joint begins to sublux, the body's natural response is to tighten the muscle groups around the joint to prevent further dislocation. The muscle fascia also gets stretched painfully, causing fascia pain much like fibromyalgia.
Dislocating a joint can more easily tear the weak tendons and ligaments.
If you've ever sprained an ankle or "put your back out," then you can understand how it feels. The difference is that this sort of thing happens frequently; often daily, and the joints "go out" much further than most people's joints go out. Once, my daughter sprang her ankle and the top of her foot became scraped from the driveway as the ankle moved under her leg so completely!
How Do You Cure Ehlers-Danlos Syndrome?
The short answer is, you don't. You are born with it and when you're symptoms start to appear, you must take care to support your body and general health in the way that works best for you.
Since this disease manifests so differently in each person, ten people with EDS will experience it in ten different ways. Many children show symptoms early on. Other people know something's not quite right but don't need support until later in life.
Some people will remain active all their life, while others will need the support of braces, crutches, and wheel chairs. Many people will have accompanying conditions like postural orthostatic tachycardia syndrome (POTS) dysautonomia, fibromyalgia, IBS, migraines, and nerve damage.
- Keeping muscles strong, using physical therapy and occupational therapy as needed are a great start.
- Eating well, getting enough rest and managing stress is also helpful.
- Some people find gentle massage, acupuncture, biofeedback, or manipulation helpful.
- Many people need some sort of pain relief.
How Is Ehlers-Danlos Syndrome Diagnosed?
Ehlers-Danlos Syndrome is notoriously tricky to diagnose. There are several reasons for that.
One reason is that it is so rare. Very few doctors are trained or have experience with the disorder. Even in a very large practice, it is highly unlikely that a doctor has identified and treated someone with EDS.
Another reason is the varying nature of the disorder itself. Some days this joint is out, another day something else is out. In the morning my knees may feel normal, but halfway up the stairs the tenth time, the knee "goes out." Some people can function almost normally one day, need the support of a wheelchair another day, and be in bed after that.
I have had the experience shared by my almost all other EDS patients, of medical professionals listening to my complaints and trying to put the disparate symptoms into some familiar category. I've seen the polite smile as I describe highly variable pain and other symptoms. I've also seen the eye roll. It makes me mad but then, I admit that even I think to myself as I left the office, "Coo coo!"
If you know you have Ehlers-Danlos Syndrome and tell a new doctor, they may question the diagnosis. They may have out-of-date information about the Syndrome and may tell you the diagnosis is wrong because you don't exhibit all of the symptoms they learned about in medical school. As my current D.O. says, "We don't know what we don't know!"
For instance, my new cardiologist was uncomfortable with my non-diagnostic proof of hEDS. Though he wanted further testing of some sort, he admitted that he didn't know WHAT tests nor WHERE I should go.
There is also much confusion about the difference between Hypermobility Syndrome (HMS), Benign Hypermobility Syndrome (BHMS) and Ehlers-Danlos Syndrome-HypermobilityType. A quick search on the internet, including such trusted sites like the Mayo Clinic's site, still state HMS as something completely different than the rarer EDS - Hypermobility Type.
However, newer information has shown that the differences are minimal and should be treated as one in the same. Regardless of the semantics, the results and treatment are the same, although the perception by the medical community can be very different.
Although most other types of Ehlers-Danlos Syndrome can be identified with genetic testing, the hypermobility type can not. Experts know it's a genetic disorder, but have not yet isolated the gene that is malfunctioning.
For those of us with hEDS (previously referred to as EDS-HMS), we can be diagnosed using the updated Beighton Criteria or scale. In a nutshell, you score yourself on certain criteria of flexibility as well as the number of locations of repeated subluxation or dislocation. There are also skin-related symptoms that may or may not exist in this type, but are key symptoms in other types of EDS.
I Have Hyperflexible Joints: Do I have EDS?
Many people, especially children, are flexible. Certain populations are also more naturally flexible than others. So just because you are "bendy," you do not necessarily have EDS-HMS.
If you sprain your ankles or put out your back or have other related injuries often, you may want to check out the Beighton Criteria at the sites mentioned above (or do an internet search for it).
If you have always been flexible, you may not know what normal is—I certainly did not understand that most people couldn't scratch everywhere on their back or touch the floor with flat hands—at least not without years of yoga or ballet!
If you seem to fit the bill with the Beighton Criteria, then I suggest you do more of your own research. Again, the two websites cited above are great places to start.
Also, you can explore groups on Facebook by searching for hypermobility, Ehlers-Danlos Syndrome, and Zebras.
Just like the pink ribbon is the symbol of breast cancer, the zebra is the symbol of EDS. It comes from the concept that doctors are taught in medical school: If you hear hoof beats, think horses. But those of us with EDS-HMS are NOT horses. Although our hoof beats may sound like horses, horses we are not!
If you decide that you fit many of the criteria for EDS-HMS, I suggest printing out much of the information you've found, including information designed for medical professionals.
Make an appointment with your general practitioner to discuss this information. Be sure you are clear that the appointment is for a consultation, not a quick seven-minute check for the flu—so you will get more time with the practitioner.
Also, be patient and respectful of your medical practitioner. They will likely have no experience with EDS-HMS and have outdated information, which is why you've brought information to share with them. They may very well tell you that you don't have it and try very hard to make you a "horse."
Again, be patient and ask them to look over the materials before your next appointment where you can discuss the diagnosis further. Given time and more information, the practitioner can be your best advocate.
If your medical practitioner is disrespectful, doesn't want to read what you brought them, or refuses to listen, find another professional. Many people with EDS have good luck with pediatric specialists, rheumatologists, orthopedists, osteopaths who practice mostly manipulative therapy, or physical therapists.
You are not necessarily looking for someone with a vast knowledge of EDS-HMS—they are very rare—but someone who is willing to learn with you and become a team member.
My personal team consists of an osteopath, a nurse practitioner with PT experience, a physical therapist who also does acupuncture (he was the key to my discovering my own diagnosis at age 47), and a family practice doctor who keeps me on track with the rest of my health. I have also found a naturopath extremely helpful in supporting my EDS through pumped-up nutrition.
Why I Started Writing About This Rare Disease
It took me 47 years, many misdiagnoses, and lots of rolled eyes to figure out my diagnosis. I've known since I was ten that something was not right. But I was highly functional, albeit a total klutz!
Per information from the Ehlers Danlos Society, it takes patients an average of 12-14 years to be diagnosed.
As I got older, I started having more pain and was fortunate enough to surround myself with extremely talented Osteopaths who put me back together as needed. Although they knew that I was delicate and would "fall apart" easily, we never could figure out why. My health is very strong by all traditional standards.
The pain increased in my 40s, as did migraines that fell out of the normal realm of extreme. I could feel my bones and joints were involved and experienced two-day "structural migraines" twice a month!
In my desperation, I widened my search for practitioners that could help. When my Physical Therapist said I was super flexible and it wasn't a good thing, I did research and more research. Come to find out, "winning" at competitive yoga wasn't due to my expertise, but my unusual genes! And EDS explained why I did things like dislocating my hip, reversing the direction of my tailbone, and making my pelvis and lower back go in opposite directions—not to mention wake up in pain every day.
As I talk to people now, I find a few that say, "I know someone who's like that" or, "Hey, that sounds kind of familiar." I'm always hopeful that, in my little sound bite, I can perhaps set them to researching and finding some help.
The other reason to talk about this is that EDS-HMS is inherited. If you have it, there is a 50-50 chance your kids will have this too. Now that I understand how my body does and doesn't work, I can better communicate to practitioners about my children. I can also make sure they get physical therapy when needed and that I validate the aches and pains they have. It's also important that the school know as certain accommodations may need to be made.
We Zebras also have to give ourselves needed rest and self-care and not think ourselves unmotivated, lazy, or klutzy. I no longer feel guilty about the naps I have always needed. It can be a struggle to get your friends, family, and work associates to understand too.
I hope that I have helped at least a few readers to understand Ehlers-Danlos Syndrome, if not for your own good, perhaps that of a friend or relative.
Update: More Research Being Done, Clearer Standards Set
After 20 years, the experts in the field of connective tissue disorders have met again. Much has changed, especially with more awareness by patients on social media.
The criteria for determining the different kinds of EDS have become more clear and more clinical. And the number of types has grown from 6 to 13. There is also more information to help tell the difference between Hypermobility Syndrome (HMS) and Hypermobility Ehlers-Danlos Syndrome (hEDS).
Statistics show that EDS is much more common than previously thought, but it is still considered a rare genetic disease.
With the new criteria for diagnosis, the hope is that more people will be properly diagnosed and treated. The new information is also meant to help insurance companies as well as disability criteria (of which EDS is not included.)
While there is no cure (yet) for any of the types of EDS, the experts assembled see more research being done and hope the clearer standards make it easier for an even larger increase in research to come. They have also agreed to meet and update the information every other year!
Where Do I Find a Good Book or Other Resources?
While there is more information on EDS all the time, the selection of books available as resources is still a bit slim. While Ehlers-Danlos.org is still the most comprehensive source of information for keeping up with the newest studies, research, and information you can take to your practitioner here are some books that either I have read or my "Zebra Herd" has approved:
- Living Life to the Fullest with Ehlers-Danlos Syndrome: This is a book and method of PT that many in my "herd" swear by.
- Joint Hypermobility Handbook: This is a great starter book written by Brad Tinkle M.D. Ph.D of the Peyton Manning Children’s Hospital who is of the few experts in the United States.
- Pilates Without Tears: I love this thoughtful look at the "tough-it-out" method of Pilates. The author also struggles with hypermobility and has done webinars for EDSWellness.org
There are also many blogs, vlogs, Facebook groups, and newsletters to help you learn more about EDS!
This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.
Andrea on August 03, 2016:
Thank you for this article! I cried...I am nearly 40 and have just thought myself really flexible my entire life. I have always been so clumsy...Absolutely no balance and constantly hurting ankles, hips, knees and wrists. Now that I am older I am in so much pain every day and could never explain the cause.
MaryBeth Walz (author) from Maine on May 19, 2015:
I would agree that many doctors have probably had EDS patients in their practice but never knew it. But I do have to ask you, when was the last time a doctor spontaneously checked your flexibility? I was 47 before anyone ever noticed that I was too flexible. And because I did not know such a thing could be possible (aren't we all supposed to stretch and work on our flexibility? LOL) I had never thought to tell anyone. And it was only after I started to piece together the seemingly disconnected "symptoms" that make a syndrome difficult to diagnose, that I realized being able to turn my leg around or scratch my entire back, etc. was not what everyone could do. My PCP at the time had several practitioners who had all practiced for many years. Their clinic was fairly large and I was only the 2nd person who ever had been identified with EDS (and only after I brought the diagnosis to them).
Most patients present with a sprained ankle and so are treated for a sprained ankle. If the shoulder has become damaged from multiple injuries, then surgery is done. The fact that the surgery may not "take" is just an unfortunate risk. If the same person presents with low blood pressure, they are given medication. Perhaps now they've seen doctors for each symptom.
So seen patients with EDS, probably. Properly treated, not likely - especially as there is no actual protocol for them to follow.
Ginny Ickle on May 19, 2015:
Nice, especially the photos!
I disagree about one thing, though:
- Given that at least one patient in 3,000 has EDS;
- and given that folks with EDS tend to need more medical care than average, sometimes lots more;
- and given the number of patients per day most physicians now see ...
I would think that most doctors will have seen and treated a number of patients who have EDS.
What they won't have done is diagnosed or properly treated the EDS.
MaryBeth Walz (author) from Maine on July 18, 2013:
Thank you Bobski606! I agree that it was such a relief to have a name put to it - even if there's little to do to help the condition. I'm glad that you found someone that listened and did the tests!
It does seem weird to me, some times, that it was such a relief to have a name. But now I say with pride as I go into a new practitioner, Hey, I have EDS, let me tell you about it! So I just feel good teaching and have been happy to be received so graciously!
And thanks so much for the link!
Bobby from U.K on July 18, 2013:
Such a great article so thank you very much for writing it. I'm so glad that I found this article because you've basically just described a day in the life of me, especially when you got to the part about your lower back and pelvis going in opposite directions!
I've so far been diagnosed with HMS from a rhuematoid specialist who originally thought I had junior arthritis but after scans there was no damage and my blood work was showing up as fine too. He actually got me to perform the flexibility tests you mentioned above and I could do them with no difficulty. After a long time and many many doctors saying that it's all in my head it was wonderful for someone to sit down with me, perform relevant tests and say actually you've got x, y, and z(ebras) and you're not cuckoo whatsoever.
I've written a couple of blog posts on what it's like to have HMS but now that I've read this information I'll be adding a link into those articles to point them over to here because it'll be important for them to read it.
Once again thanks for writing this brilliant article.
MaryBeth Walz (author) from Maine on March 04, 2013:
Thank you Leilabarda!
Rosa Lea Acerimo from Marikina City on March 03, 2013:
Thank you for a very insightful article. It's an eye opener and a good guide for those people who might have this kind of problem.
MissJamieD from Minnes-O-ta on March 01, 2013:
MaryBeth Walz (author) from Maine on March 01, 2013:
MissJamieD - I'm glad you found this article helpful and hope it helps your bff! I know lots of zebras suffer from the same doubts as she, as well the kinds of opinions others have of her. Good luck to her and kudos to you for being so supportive of you!
AccumulateAmerica - Thank you!!
April from Catawba, NC on February 28, 2013:
Excellent article! If you read my articles you will see I suffer issues as well, but I never everything. My entire life I was extremely flexible! It wasn't until later and after a couple of on the job injuries I began to feel for you. You are right in your article on so much! I am now a follower of your work. Great article.
MissJamieD from Minnes-O-ta on February 28, 2013:
This is so crazy that I just ran into this article because my best friend has been suffering from similar issues as this, her entire life. She is always in pain and suffers on a daily basis. People tend to judge her because they think she's a pill-popper and all these other judgements. But I've been going through this with her for several months, she's been explaining her hypermobility to me, she showed me how she can lie on the floor, lift her feet above her head, and lay her knees behind her head on the floor! It's unbelievable. But the difficult part is that she's always tired, as I said, she's always popping joints out of place, and this causes her to get sick at times with anxiety and she has a hard time keeping a job. She's depressed right now because she doesn't know what to do, her boyfriend needs her help paying the bills but she's always in pain and getting sick, she's in a huge slump right now.
Thanks so much for writing this article, I've already sent my bff this information so I'm hoping she'll find what she's been looking for. This was a lifesaver of a hub for me, thank you so much!
MaryBeth Walz (author) from Maine on December 18, 2012:
Debz, I'm so glad this article helped! This is such a complex syndrome, it's really no wonder that our practitioners don't understand or know about it. Feel free to share this and be sure to share other resources to help educate your doctor. They can't know about everything, especially these rare things. It's nice to be a teacher and help them!
Debz on December 17, 2012:
I think reading this has just saved my sanity. Recent diagnosis by a physio and podiatrist of having jhms but but my own doctor says I'm just flexible that's it. I have all the other associated symptoms with Eds. I've learnt more from your article than my doctor. Thank you
inmyfeelings from Annapolis, MD on February 21, 2012:
very interesting, thanks for sharing.
MaryBeth Walz (author) from Maine on February 19, 2012:
Thank you Amy. That is exactly what I was hoping for. This is a very confusing condition. If you'd like more help or support and are on Facebook, there are several support groups. I'a one of the administrators of Holistic EDS. But there are others that discuss EDS from a more conventional perspective. Although the "herd" can be very emotional (frustration and pain can do that to you,) they are very supportive and you can learn a lot. There are many parents involved too.
amy on February 18, 2012:
This has been the most helpful thing i have found online so far. My 5 yr old son was diagnosed by his geneticist in december of last year. I am having a difficult time getting info on this condition, thank you for this info.
MaryBeth Walz (author) from Maine on February 17, 2012:
Thank you Mala!
Mala Srivastava from India on February 17, 2012:
I never heard of this syndrome.Interesting hub. Voted up and useful.
MaryBeth Walz (author) from Maine on February 15, 2012:
Thanks Carol, that's a great explanation. Sometimes I just reference Gary Larson's "Boneless Chicken Farm" picture. Often, laughter is what keeps you going!
Carol L. on February 15, 2012:
Very well written and informative. I have also HEDS. I have found it very helpful to explain my condition as so;
I have a genetic disorder that causes faulty collagene. I am like a worn out rubber band. If you keep stretching a rubber band over and over again; it will lose it's elastisty. Our ligaments are worn out rubber bands. Collagene is in bone and muscle fibers as well as ligaments, etc. If you were to put the old worn out rubber band over something it would no longer grab ahold. This is what is happening to my body.
It sounds rudementary, but most people will understand to a certain level. People are visual and need something to relate to.
I hope this helps
MaryBeth Walz (author) from Maine on February 15, 2012:
Why thank you Leanne! Thank you for sharing the article, I hope it helps people. I'm so sorry about how your EDS has manifested, but I can see what an amazing family you have. And congrats for to your son!!
Leanne Thompson on February 14, 2012:
This is a great article, which is why i have posted it on my facebook, in hope that it helps others to become more familiar with this rare genetic disorder! It also took some years for Doctors to diagnose me and after going down the, test after test and then the must be in your mind, see a psychiatrist route, I eventually by chance was seen by a geneticist and initially after, examination, history and a first skin biopsy, was diagnosed with the hypermobility type 3, but following surgery when I haemorrhaged severely and nearly lost my life, Further skin biopsies showed I had a lack of collagen 3, which is in line with vascular type 4, so I was told I overlapped onto type 3/4! I have since spoken to other Zebras, who also overlap more than one type. I also like many have POTS and other related conditions, I have very severe gastric/oesophagus problems, caused by the EDS and as a result I now have a hickman line, for IV feeding and medication, as I can't have anything by mouth! Our son has inherited the disease, but thank God his symptoms are not as severe. Incredibly he is an exceptional tennis player and despite fighting through lots of injuries and terrible pain, he reached international standard at 15! He has to work much harder to keep his muscles built up, to support his unstable joints, but he is so determined to reach his goals and at 16 now, he is hoping to achieve his first world points, this year! He is truly inspirational and despite his own pain and suffering, he is an amazing son, who always supports and helps his Dad, with me. We are so proud of him and really wanted to share this story with others, who suffer with EDS, to encourage you never to give up, because who knows what you can achieve, through determination and desire, like our son Lewis! God bless you all, gentle hugs to all fellow Zebras much love Leanne Thompson x x x x
MaryBeth Walz (author) from Maine on February 14, 2012:
Thank you Toni. I hope you found some useful information here, and maybe info to pass on to others. :)
Toni H. on February 14, 2012:
I just found out this runs in one side of my family. Great article, and inspiring how long it took for you to find answers.
MaryBeth Walz (author) from Maine on February 14, 2012:
Thanks Connie! The familial denial thing is common in families for anything that's chronic, I think. I was adopted so I only know about my own kids.
Connie on February 14, 2012:
EDS is a family thing for me (though I'm the only one who excepts it. My doc said remember stretchy on the outside means stretchy on the inside, i.e. heart... What you've written should at least cause curiosity. I learned something, thanks!
MaryBeth Walz (author) from Maine on February 06, 2012:
Thanks! Are you a Zebra or know someone who is?
RTalloni on February 06, 2012:
Interesting, again, and will be helpful to many, both those who are zebras, and those who love them. You have a good perspective on dealing with Elhers-Danlos.