“As far back as I can remember, i was told pain was normal, or in my head, and to keep going”
Welcome to the life of Dawn Michelle Shepley…and, unfortunately, so many other people living with rare and chronic conditions.
Dawn lives with EDS, or Ehlers-Danlos Syndrome, a group of disorders that affect the connective tissues in the body.
These tissues support the skin, bones, blood vessels, and other organs, essentially holding them in place.
Because the connective tissues are compromised, a wide range of symptoms may present themselves. In Dawn’s case, there was delayed walking and a lack of fine motor skills as an infant. She often cried when she was learning to walk, and begged to be carried instead.
As she got older, she began experiencing severe migraines, tore her Achilles three different times, and experienced the first full dislocation of her right shoulder when she was 15 years old. In her early 20s, Dawn had two pregnancies–each causing so much pain that she spent the majority of time on bed rest. And yet, Dawn might actually be fortunate.
There are at least six different types of EDS: classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis. Those with vascular EDS may experience organ rupture, including tearing of the intestines and a rupture of the womb during pregnancy. These can be life-threatening complications.
Depending on the type of EDS, other symptoms may include:
- increased range of motion in the joints/loose joints
- likelihood for joint dislocation
- chronic pain
- weak muscle tone
- soft, velvety, elastic skin
- skin that sags or wrinkles
- wounds that split open and leave scars that widen over time
Other, more serious symptoms include:
- tearing of blood vessels
- tearing of organs
- progressive curving of the spine, which can interfere with breathing
“I spent the better part of 19 years in regular pain, with no answers, due to a lack of education and awareness on this rare and disabling condition.”
Because EDS symptoms are often similar to symptoms of other conditions, it can be very difficult to diagnose. In Dawn’s case, she didn’t know what she was dealing with until she was 27 years old. By that point, her mother had been diagnosed with fibromyalgia, so that’s what Dawn suspected she had as well. She referred herself to a rheumatologist, and after two hours of consultation and poring over medical textbooks, the culprit was identified.
EDS is caused by gene mutations–either inherited from the parents or sporadic mutations not linked with family history. The affected genes disrupt the collagen in the body–a protein that provides structure and strength to the body’s connective tissues.
Those affected (like Dawn) are often referred for physical therapy (to help strengthen the muscles around their joints) and surgery (to repair joints that are damaged over time). Unforunately, there is no cure for Ehlers-Danlos Syndrome, but there are resources (like Patient Worthy!) that can help.
