Monday, January 31, 2011

My brother is nicknamed "Gumby"

I feel relieved. Upon researching a genetic condition that affects collagen, which two of my friends have, I realized that I probably have it too. Yes, I am known to be a hypochondriac, and a wee bit psychosomatic. However, I cannot make my skin stretchier or my joints partially dislocate (sublux) just by imagining that they do. I can, however, make my joints sublux by something as simple as shrugging, rolling over in bed, or standing still. Tonight at Stitch & Bitch, people remarked at how often and loudly my joints cracked. Last week, we discovered that my jaw clicks loudly enough for others to hear. Awesome.

Here are some characteristics of this disorder, called Ehlers-Danlos Syndrome. I have bolded the symptoms that I have, as well as symptoms that my eldest brother and my mother have, as I am suspicious that they have this too. I've taken this from Wikipedia. Not a medical source, to be sure, but still helpful.

  • Highly flexible fingers and toes
  • Loose, unstable joints that are prone to: sprain, dislocation, subluxation (partial dislocation) and hyperextension (double jointedness)
  • Flat feet
  • Joint pain without inflammation
  • Fatigue, which can be debilitating
  • High and narrow palate, resulting in dental crowding
  • Vulnerability to chest and sinus infections
  • Easy bruising
  • Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
  • Velvety-smooth skin which may be stretchy and is often translucent, with blue veins clearly visible on limbs and particularly in the hands
  • Abnormal wound healing and scar formation (scars may appear like cigarette burns)
  • Low muscle tone and Muscle weakness
  • Early onset of osteoarthritis
  • Cardiac effects: Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse
  • Unexplained "pins and needles" or numbness in extremities
  • Difficulty regulating own body temperature, resulting in a vulnerability to the cold and heat. Many patients suffer fatigue and dizziness when exposed to hot conditions, eg. having to sit outside on a hot day
  • Severe mouth ulcers. Many patients complain of having several mouth ulcers at any one time. This is believed to be due to tissue fragility and vulnerability to infection
  • Food allergies and intolerances are very common
  • Sensitivity to medications. One of the cruelest aspects of EDS is that many patients experience bad reactions to medications, such as pain killers, making it very difficult to find safe, effective pain management
  • Migraines and headaches
  • Fibromyalgia symptoms: Myalgia and arthralgia
Other, less common signs and complications may include:
And now, for the fun bit. Photos!

I use my pinky to scratch my ring finger.
I usually do this unconsciously.



This is what a friend has dubbed "The EDS Gang Sign"

Apparently hypermobile fingers. Seems normal to me.
Thumb at rest.

Indent = Sulcus Sign. Partially dislocated shoulder.
Notice the road map of veins due to thin skin.


If I were you, I wouldn't trust my bendy fingers,
but that hole is where my shoulder bone is supposed to be.

How I usually stand to feel stable. Partially dislocated knee, unstable ankle.
That blue tinge is from my veins showing through my skin. I also thought that was normal.
This is how I hold a pen because my index finger is super bendy.

Holding a thick marker is easier than holding a thin pencil

I can use my stable thumb to support the marker.
My fingers are "boutonairre" and unstable.

Arm is more than 90 degrees backwards from my torso. I can extend it backwards to about 145 degrees.
Shoulder is partially dislocated at the back.

Inside of elbow up, palm up, dog up.

Inside of elbow up, palm down (and rotated to the right), dog down.

Inside of elbow up, palm up, fingers extended.


Right thumb touching forearm. (Other hand holding camera)

Right arm straight at 180 degrees. It's hard to hold it steady here.

This is how my right arm usually bends - past 180 degrees.

Left thumb touching forearm. This wrist might be partially dislocated. I dunno.
 I have what is considered to be abnormally stretch skin, too, but photographic evidence will have to wait until I

A: get photo booth to work again
B: fish out my awesome DSLR, tripod, and remote, or
C: Solicit someone to help

So. Yeah. According to medical sites, both genetic and orthopedic, I definitely exhibit signs of hypermobility, which isn't necessarily Ehlers-Danlos Syndrome, but add in my stretchy see-through skin, which scars oddly, and it's more likely that I have EDS. Probably a mild case of Type 3, which classified as the hypermobility type (confused yet? You should be.) rather than a classical type.

The hypermobility type, unfortunately, doesn't have a particular genetic test that can be done to get a positive diagnosis, unlike the other types, which do. Even without a positive EDS diagnosis, I'm definitely hypermobile and walk funnily, so I should at least be able to get a referral to physio to learn how to build up my muscles in ways that don't aggravate my joints.

1 comments:

Unknown said...

Okay wow, I just stumbled across your post after googling some EDS symptoms - thank you so much for your post, it's very helpful, especially the images. I just recently got a diagnosis of EDS type 3 and I'm trying to learn more about it. You mentioned that type 3 doesn't have a genetic test. Do you know if there is a general one in case you have symptoms in other types as well?

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