Rare Disease Education: Ehlers-Danlos Syndrome
Editor: Kelsey LaFayette, DNP, RN, FNP-C
"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people, each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.
To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.
When building a house, every material used is carefully planned for and chosen for its specific properties. Some building blocks, such as concrete for the foundation, have to be sturdy while others, such as hinges for doors, must provide flexibility and movement. In our bodies, collagen is one of the major structural components that play a role in strengthening connective tissue (think bones) and providing flexibility where needed (think cartilage).
The Ehlers-Danlos Syndromes (EDS) are a group of related disorders caused by different defects in collagen, each subtype resulting from a distinct genetic change. The collagen of people with Ehlers-Danlos Syndrome may either be of poor strength or be present but in amounts insufficient to fulfill its intended function. This disease primarily involves the skin, muscles, skeleton, and blood vessels. Symptoms may include excessively flexible, loose joints that can be easily dislocated as well as fragile blood vessels leaving patients experiencing easy bruising, and even an increased tendency to serious episodes of bleeding. Signs of the disease usually become apparent during childhood.
Meet Alberto and his family
Alberto’s Ehlers-Danlos Syndrome was so severe he was told he would be in a wheelchair by his twenties. Defying all odds, he is now a martial arts instructor. Alberto, his wife Karly, and his two stepchildren all have Ehlers-Danlos Syndrome, with differing manifestations in each.
Despite the daily struggles with dislocations, joint instabilities, and the risk of dangerous complications this family has still found ways to adapt and overcome. For instance, they take a wheelchair in the car with them everywhere they go, not knowing who may end up using it. Watch them tell their inspirational story above.
Organization Taking Strides
The Ehlers-Danlos Society, founded in 1985 by Nancy Hanna Rogowski, is a globally significant non-profit organization committed to supporting, educating, and advocating for individuals affected by Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD).
The Society offers extensive support services such as dedicated helplines, online communities, and support groups, addressing the needs of various demographics. It's planning to introduce a smartphone and web-based app with various features like a diagnostic questionnaire and symptom diary.
The society is also involved in extensive research collaborations, having funded over $6 million in research since 2016. An integral part of this is the DICE Global EDS and HSD Registry, aimed at facilitating further research. On the education front, the Society's EDS ECHO program is an education initiative for healthcare professionals worldwide, aiming to reduce the delay in diagnosis and improve treatment. The Society also organizes EDS ECHO Summits and Global Learning Conferences, fostering education and connection within the global community of individuals affected by EDS and HSD.
More Information on Ehlers-Danlos Syndrome