EHLERS DANLOS SYNDROME (EDS) often goes undiagnosed…untreated
For Louisa family, illness has been a mystery for years
By Dorothy Nelson
When my oldest was first diagnosed with hEDS we had been to five doctors that had no clue what was wrong with her. Her legs were turning blue and the best they could tell me was they suspected lupus was the cause.
April 14, 2014 changed our lives forever as we met with a rheumatologist at Cincinnati Children’s Hospital who said she had Ehlers Danlos Syndrome.
Ehlers Danlos Syndrome (EDS) is a connective tissue disorder that can affect someone from head to toe. The common saying is “if you can’t connect the issues think connective tissues.” There are several types of EDS but the most common among them is Hypermobility EDS (hEDS.) This also happens to be the only one that is diagnosed entirely based on clinical presentation. There is no mutation that has been found yet.
In March of 2017 new criteria for diagnosing hEDS was released by a panel of knowledgeable doctors. The new diagnostic criteria of Hypermobile Spectrum Disorder (HSD) includes three criteria that must be met for a diagnosis of hEDS. Previously, it was diagnosed primarily by looking at the flexibility of certain joints using the Beighton Scale.
ON April 14, 2014 we met with a rheumatologist at Cincinnati Children’s Hospital who said she had Ehlers Danlos Syndrome. As we started physical and occupational therapy we discovered just how much we thought was normal wasn’t.
You see, my whole family is flexible and so the struggles she had I had chalked up to “normal”. She didn’t have the core muscle strength to ride a bike, the strength in her hands to open bottles or button buttons. Her anxiety, ADD, OCD, complex tics, bladder issues, gastroparesis, MTHFR mutation, dislocations, chronic fatigue, chronic pain, low vitamin D and iron, venous insufficiency, and poor proprioception were all to blame on hEDS. We are also now looking into autonomic dysfunction.
Thankfully, we have been blessed to meet many other EDS families. They each suffer in their own way. EDS is a lack of collagen and you have less collagen, as you get older. One EDS patient, also known as “zebras” can have collagen deficiency in one area that is completely different in another person
Currently three zebras in our EDS group from Louisa are getting ready for surgery caused by damage caused by lack of collagen. Two of which have to travel over two hours to go to doctors that are just vaguely familiar with EDS.
We want to change that. With the new criteria recently published by The Ehlers Danlos Society we hope that more doctors will read up on it and the misconceptions about hEDS can stop in their tracks.
Here are a few interesting facts about EDS:
1. Ehlers Danlos is not rare, it is a rare diagnosis.
2. Yes you can go your whole life and only have arthritis like pain and no further complications.
3. There is no cure but the earlier diagnosed the better quality of life you can possibly provide for yourself/kids.
4. EDS doesn’t discriminate. You can be any age, race, gender, size and shape.
5. The most common misdiagnosis for EDS is fibromyalgia.
6. There is no one size fits all treatment for EDS patients. The saying among the EDS community is that no two zebras have the same stripes.
Imagine spending your entire life in pain. Now imagine for a brief second finding out that wasn’t normal. Then stretch a little further and imagine that doctors that you trust with your life have little to no knowledge and depend on you to do your research and tell them what is wrong.
As a parent this has been a wake up call that doctors don’t know everything (yes I truly believed they did before this.) My husband Kevin and I want doctors to acknowledge that EDS is not rare and to do research. I don’t want to have to travel four hours one way for my 3 kids to get to doctors that understand EDS. Our plea is for someone to care enough to listen, research, and help.
For more information you can go to: https://www.inspire.com/groups/ehlers-danlos-syndromes-and-related-disorders/ Feel free to contact me thru the Lawrence County Ehlers Danlos page as well.