Last week we challenged our CureClick Ambassadors to share important clinical trials that supported research for lung cancer, prostate cancer, high cholesterol, diabetes, and asthma. For their share efforts, CureClick donated to the following non-profit organizations:

CureClick Click-for-a-cause

 

 

CureClick also made an additional $250 donation on behalf of an Ambassador who won the challenge:

Donation to EDNF to support Ehlers-Danlos Syndrome (EDS) awareness

The winner of our Click-for-a-Cause challenge was Emily Evert, who generated the highest number of clicks to help increase awareness for medical research. By winning the challenge, Emily can choose to have CureClick donate $250 to any non-profit of her choice on her behalf and she chose to support EDNF – The Ehlers-Danlos National Foundation.

Upon speaking with Emily, we wanted to learn more about EDS as a rare condition and we asked Emily to share why she chose EDNF and to speak about her experience with EDS. Read more below!

 

What is Ehlers-Danlos syndrome (EDS)?

Ehlers-Danlos-syndrome-EDSEhlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility.

Individuals with Ehlers-Danlos syndromes (EDS) have a genetic defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in patients with EDS are the result of faulty or reduced amounts of collagen. You can learn more about What is EDS from EDNF.

Getting diagnosed with Ehlers-Danlos syndrome (EDS)

In her own words, Emily shares with us her experience with EDS —Emily Evert

My journey to getting diagnosed with Ehlers Danlos Syndrome started after I learned that my half-sister and her daughter were both diagnosed with Ehlers Danlos Syndrome. I learned that most popular symptoms of EDS are hypermobility (which is often referred to as being “double jointed”) and stretchy skin. I had both of these, as did my father (who I share with my half-sister) and I knew that it was hereditary so with my sister and niece having been diagnosed I thought I may have it as well. I read online that a geneticist visit is required for a formal diagnosis, so at my next appointment with my primary care doctor I mentioned that I thought I may have ehlers danlos syndrome and was curious if she would give me a referral. She said she remembered hearing the term before, but she couldn’t remember what the diagnostic criteria for EDS was. She had me re-schedule so she could research EDS and when I came back she ran through the beighton scale with me, which is a physical test or exam that tests for hypermobility. I scored high enough that she thought a geneticist referral was in order, and at that geneticist appointment I was formally diagnosed.

It’s believed that most contortionists who used to be in circuses probably had EDS, which causes their faulty collagen (connective tissue) to give them the ability to bend and stretch in ways that most others cannot. There are still documentaries or YouTube videos made showing “tricks” that people with EDS can do, and they are neat to watch. However, it’s unfortunate that the world primarily only sees EDS mentioned as a syndrome that allows people to do weird bendy tricks, because for most people with EDS it causes chronic pain.

I am one of the lucky few who has EDS while remaining pain-free for the most part. My primary symptoms right now are hypermobility and having my joints snap, crackle and pop when I move around, and the snapping is only painful on rare occasion. I’ve read countless stories from others with EDS who are in constant pain, who suffer dislocations on a daily basis, who have days where they cannot get out of bed. Some people with EDS lose the ability to walk while still in their teens. Others stay mobile for most of their life and then suffer an intense onset of problematic symptoms in the 40s or 50s.

Unfortunately, my experience with my doctor being unaware of EDS is fairly common. It’s a rare condition and the symptoms of EDS often don’t seem connected because connective tissue is in so many parts of the body.

It’s not uncommon for someone with EDS to have their symptoms present in a range of ways – such as having severe pain in their hand joints, dizziness upon standing, slow wound healing and a tendency to get cysts. As a result of these symptoms being seemingly “random” and wide-spread, it’s common for the individuals themselves and their doctors to not “connect the dots” between their symptoms.

For people with EDS who have problematic symptoms, they often face social struggles because so few people understand their condition. Pain from EDS can come and go, so it’s not uncommon for someone to be wheelchair bound for a few days, and able to move around with ease just a few days later. For friends or family members this can make it seem like the individual is faking their symptoms on their bad days, and for sufferers who haven’t been diagnosed with EDS, it can appear to doctors that they are dealing with a psychological problem instead of a physical one because symptoms can change so much from day to day.

I believe that awareness for EDS is important because I have heard from countless individuals on EDS forums about how many years they went to the doctors for their varying symptoms before even hearing about EDS or getting a referral because their doctors had never heard of the condition. Having more doctors aware of this condition can dramatically improve the lives of those with EDS if they get diagnosed earlier. Awareness among society is also important to help remove the stigmas that people with EDS experience from their friends and family members who don’t understand their condition.

 

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