What Is Ehlers-Danlos Syndrome? My Story
May Is EDS Awareness Month
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 or anything 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!
My Hypermobile Joints
I've never heard of the Ehlers - Danlos Syndromes!
If you've never heard of these syndromes, you are hardly alone. They are a group of a 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 quiet general (like mine) to very specific centralized in the spine, eyes, or periodontitis.
Over all the types, 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 sound-bite 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.
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!
More Photos of My Hypermobile JointsClick thumbnail to view full-size
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. (See Is Your Migraine Really a Cervicogenic Headache?)
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 if 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. This year, 2020, there is a big global push for patients to participate in new studies to help nail down the bad gene.
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 number of locations of repeated subluxation or dislocation. There are also skin related symptoms which may or may not exist in this type, but are key symptoms in other types of EDS. For more information on the Beighton Criteria, see Hypermobility Syndromes Association or The Ehlers-Danlos Society (formerly ENDF.org.)
A Zebra friend's design to raise awareness!
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, than I suggest you do more of your own research. Again, the two web sites 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 for breast cancer, the zebra is the symbol for 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 you 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 out-dated 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 did you write about such a 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 an 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 of 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 dislocate my hip, reverse the direction of my tailbone, and make 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 clinical. And the number of types have 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!
- 2017's New Information on EDS Types and HMS
2017 brought our community with new information and definitions of the 13 types of Ehlers - Danlos Syndrome as well as better information about Hypermobility Syndrome.
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 are 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:
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.