What is Ehlers-Danlos Syndrome?

May is the month that an increasing number of states have officially set aside to help create awareness about all kinds of Ehlers-Danlos Syndrome. Won't you help out by sharing this information with friends and family and maybe doctors?

Although the statistics show that this is a rare genetic disease, Physical Therapists, Chiropractors and Osteopaths see much more of this than the general medical community. The often feel EDS is just not recognized and diagnosed properly and that it is far more common than the statistics reveal.

Spreading the word can help people get properly diagnosed sooner and get more support for awareness and valuable research!

Thank You!!

I have Ehlers-Danlos Syndrome which is a rare, genetic, connective tissue disorder that few people have heard of and even fewer understand.

There are six types. Over all the types, the disorder occurs in about 1 in 3000 people. I have the hypermobility type - the most common - and it 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, 8 in 100 people have some form of diabetes.

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 six types of Ehlers-Danlos Syndrome, I have the hypermobility type. So in general, the ligaments and tendons that are suppose to keep my joints stable, don't. Therefore, I dislocate and sublux (partially dislocate) many of my joints easily. This causes pain and inappropriate wear of the joints which can lead to early osteoarthritis.

The 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 as well as way beyond the norm.

It also causes the muscles to do more work stabilizing the joints than they were designed to. 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.

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.

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 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.

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 half way up the stairs the tenth time, the knee "goes out." Some people can function almost normally one day, need the support of a wheel chair 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 admit that even I would 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.

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 EDS-HMS, we can be diagnosed using the updated Beighton Criteria or scale. In a nut shell, 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.org or EDNF.org.

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.

It took me 47 years, many misdiagnoses, and lots of rolled eyes to figure out my diagnosis. I've know since I was ten that something was not right. But I was highly functional, albeit a total klutz!

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 tail bone, 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.