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Ehlers-Danlos Syndrome

I have a genetic disorder that occurs in 1 in 10,000 to 15,000 people. Turns out Daniel does too. Doctors often ask if we met in a support group. It’s called Ehlers-Danlos Syndrome Hypermobility type.

This condition is rare (or rarely diagnosed), and many of the symptoms can be lessened with early intervention. I’m hoping that by sharing my issues and photos here I might help someone else get a diagnosis before they’re in their thirties.

My soft connective tissue is looser than it’s suppose to be. It made for interesting party tricks back in the day, but started causing me chronic problems a few years ago.

From the Genetic and Rare Diseases section of the National Institute of Health:

Hypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. Although hypermobile EDS is thought to be a genetic condition, the exact underlying cause is unknown in most cases. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

The signs and symptoms of hypermobile Ehlers-Danlos syndrome vary but may include:

  • Joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints
  • Frequent joint dislocations and subluxations (partial dislocation), often affecting the shoulder, kneecap, and/or temporomandibular joint (joint that connects the lower jaw to the skull)
  • Soft, smooth skin that may be slightly elastic (stretchy) and bruises easily
  • Chronic musculoskeletal (muscle and bone) pain
  • Early-onset osteoarthritis
  • Osteoporosis
  • Gastrointestinal issues
  • Dysfunction of the autonomic nervous system
  • Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)
  • Pregnancy may be complicated by premature rupture of membranes or rapid labor and delivery (less than 4 hours)

I hurt more often than I’d like to admit or discuss, I have stomach issues, I sublux knees, hips, shoulder, elbows, fingers, and toes on the regular. I have a rib sublux’ed more often than not these days. I’m also 36 and less wrinkly than expected, so… that’s something at least.

ammi embry updated august 30, 2017