Ehlers Danlos Syndrome and Me

On 6/11/2009, doctors at Cesars-Sinai officially diagnosed me with Ehlers Danlos Syndrome, Hypermobility Type, with suspicion of another type of Ehlers Danlos.

This post explains what EDS is, how it affects me, how I initially learned about EDS, and how I eventually got my diagnosis.

What is EDS?
Quoting the Mayo Clinic site on Ehlers-Danlos syndrome:

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. With EDS, genetic mutations disrupt the production of collagen, a chief component of connective tissue.

Ehlers-Danlos syndrome is uncommon and occurs in six major types. All types affect your joints, and most also affect your skin. Some of the more prominent symptoms of Ehlers-Danlos syndrome include flexible joints that extend beyond the normal range of movement, and skin that's especially stretchy or fragile.

EDS comes in a large number of types of EDS, many with similar symptoms, therefore we are performing further tests.

Many people misunderstand EDS because individual symptoms might exist in other people, but individual symptoms alone do not indicate the syndrome. For instance, when someone hears that EDS patients present a symptom of hyperextensible limbs, they assume that anyone they know with double-jointedness has EDS. Someone might hear that EDS patients have stretchy skin, and then assume anyone with stretchy skin has EDS.

While someone with hypermobile limbs or stretchy skin might have EDS, they must have several additional qualifying symptoms before they have EDS. Definitely read the additional symptoms before making assumptions about what at first appears to be a benign syndrome.

How EDS affects me - Symptoms
EDS symptoms are not apparent, meaning they are not readily visible to other people. I stand up straight, walk normally, have apparently normal strength, and talk normally. I find it frustrating when people assume an EDS sufferer leads a normal life, other than having hypermobile limbs and stretchy skin.

The May Clinic Ehlers-Danlos syndrome Symptoms page describes many symptoms of the syndrome, separated by category. As it states in the introduction paragraph, symptoms vary widely. Looking back on my life, I can see how many of these symptoms affected me, with the symptoms increasing in intensity as I age.

Basic symptoms
Stretchy skin: Both Doctors Ishimori and Weisman determine that my skin is more stretchy than most, but not as stretchy as extreme cases.
Fragile skin: My skin tears easily.
Abnormal wound healing: My skin heals slowly, scars for atrophic scar tissue rather than healthy skin.
Flexible joints that extend beyond the normal range of movement: My wrists, several fingers, shoulders, back, neck, and kneecaps all extend far beyond normal range. To some extent, my ankles and hips also extend further than normal. Finger joints are lax. Flexible joints are very easy to injure, and heal very slowly and incompletely. Several of my injuries occurred much more severely due to this syndrome, and healed incompletely.
Dislocations of shoulder, knee, fingers, and wrist: My wrists are in a permanent state of semi-dislocation. I can push them back into location, but they slide out again immediately. I can dislocate and relocate my shoulders at will. My kneecaps move around enough so that the knee joint can dislocate partly. Fingers have dislocated several times during sports and relocated.
Muscle weakness: Muscles are very strong for their size, but reach a state of weakness after extended usage that lasts longer than normal.

Hypermobility type symptoms
Loose, unstable joints: Ankles, wrists, and fingers are all loose and unstable. Knees would be unstable if not for the fact that legs build muscle tone easily.
Elastic, velvety skin: Some may not view this as a negative symptom, but leads to the next item.
Slow and poor wound healing leading to wide scarring: Massive scars on my nose, back, and hand due to relatively mild cuts that should not be this bad. Surgery scars on eyes healing slowly.
Chronic degenerative joint disease: Many of my joints have hurt for most of my life, and have been getting worse as I age.
Advanced premature osteoarthritis with chronic pain: Occurs in my wrists, ankles, toes, neck, hips, and knees. Pain also occurs a bit in the fingers.
Heart valve problems (mitral valve prolapse): So far, EKGs show my heart to be healthy.
Many of these symptoms are similar to the Classical type symptoms. Classical type, however, includes hernias.

How EDS affects me – Lifestyle and day-to-day

In 2009, EDS means that a surgery on my back last year, a surgery on my eyes this year, the re-injury of my ankle last year, the re-injury of my wrist two years ago, and the collarbone I broke in 1986 are all causing me extreme pain or discomfort on a daily basis.

The surgery spot on the back and the ankle have the highest “spikes” of hurt, several times a day causing a lot of sharp pain with a throbbing ache around them.

The collarbone I broke in 1986 playing basketball aches, and makes finding a position to sleep in very difficult.

The wrist makes extended typing difficult; I must take frequent breaks even typing this article.

Pain often interrupts my sleep; I wake with pain in my back or collar, sometimes the ankle. I get my best sleep when I take a vicodin right before sleep.

In 2008 and early 2009, had I a definite diagnosis on my condition, I might not have had the eye surgery or used the different steroidal eye drops prescribed by the eye doctor. Other treatments would have gone differently also.

EDS means learning some things about my body, and learning how to express them to people at the right times. For instance, when possible, I need non-surgical solutions, as wounds heal poorly, and deeper surgeries heal even more poorly. Another example: Steroids (such as cortisone) are not good for EDS patients; they do something to the protein or collagen formation.

The Mayo Clinic site on Ehlers-Danlos syndrome has a page on Coping and support. It suggests that we tell others:

Explain your condition to family members, friends and to your employer. Ask your employer if he or she can make any accommodations that you feel will make you a more productive worker. It is up to you how much information you divulge to your co-workers.

That describes why I wrote this article; to help my friends, family, co-workers, and others understand what I am going through.

I know co-workers have had some misunderstandings about what I am going through; it is tough to ask questions and discuss these things. I hope this helps.

Friends who have known me for years may find that this explains a lot.

To learn how I discovered I had EDS, see: How I learned I might have EDS and got my diagnosis

Resources: EDS on medscape, EDS on Mayo Clinic