When I was new to the idea that I may have an Ehlers-Danlos syndrome, I was convinced that I needed a firm diagnosis before I could receive treatment and finally find some relief from problems that had plagued me for years. I believed I had to “name it before I could tame it.” This belief was echoed by hundreds of posts I read on several EDS-related social media platforms.
It’s not in your head just because you can’t name it
For me, like so many others, I had endured decades of problems and was frustrated. I wanted help and it seemed that no one was convinced that I needed any because extensive medical testing had produced no explanation or validation for my problems.
I was told that the pain in my joints was likely from depression. Nearly fainting when standing up? Just stand up more slowly. Cardiovascular and gastrointestinal issues? They’re likely due to stress. All the other weirdness that could not be explained was likely due to stress, too, I was told.
But reducing stress and treating depression did not stop the problems, and instead of searching for more explanations, I was expected to double down on my efforts. I was made to feel like my lack of progress was my own doing. I was frustrated and resigned to my fate.
In the meantime, I moved across the country for my then-husband’s career and delivered my fifth child. I experienced difficulties with dislocated joints during and after my pregnancy and eventually saw a doctor about it.
So close to an answer
I first learned of genetic connective tissue disorders after reading a pamphlet about Marfan syndrome in my optometrist’s office. Many people in my family, myself included before I had children, have a Marfanoid habitus, a tall and thin body type with long fingers and a family history of aortic aneurysm. When my youngest child was born with a slight pectus excavatum, and I continued to dislocate joints, I knew something was going on. Then I read a post by an online acquaintance about her struggles with EDS, and suddenly, all the pieces of the puzzle came together. I discussed it with my doctor and showed her what no other doctor had asked to see: my very bendy joints. She agreed that EDS was something to look into.
Yet still so far away
Unfortunately, the final legs of the journey toward an EDS diagnosis can be painfully long and winding. Although any physician can diagnose EDS, complicating factors may necessitate a consultation with a geneticist. The goal is to genetically confirm EDS or rule out other conditions. But there are over 200 connective tissue disorders to sort through. If you are waiting for a final diagnosis to begin treatment, your wait will be tortuous!
Help is available along the way
Fortunately, a “working diagnosis” or preliminary diagnosis can secure some treatment and relief while a final diagnosis is being determined.
Some of the working diagnoses for my children and me were hypermobility of various joints and connective tissue disorder with generalized joint laxity — and because of accompanying dysautonomia and gastrointestinal issues, benign joint hypermobility syndrome. These working diagnoses allowed us to start treatment while pursuing a final diagnosis.
My new primary care physician was able to order physical therapy to help me with neck pain, core strengthening, and joint stabilization without a final diagnosis. She let me know that she would help me with pain management if I needed it. I have my parking placard thanks to her.
She also referred me to various specialists, including a great cardiologist who diagnosed postural orthostatic tachycardia syndrome and started me on treatment, and a rheumatologist who ordered occupational therapy for my hands and ring splints for my fingers. By the way, my ring splints did not require a final diagnosis of Ehlers-Danlos syndrome.
Due to my family’s medical history, genetic testing was needed to rule out certain conditions. An appointment with the geneticist was a year out. My rheumatologist reached out to the genetics department. They walked her through ordering my first round of genetic testing. By the time I had my first appointment with the geneticist, I was already beginning to see some relief from symptoms such as pain and fatigue.
The relief did not negate any of the symptoms I had previously suffered, and it did not disqualify me from receiving a definitive diagnosis of an Ehlers-Danlos syndrome. It did, however, help me push on for a final diagnosis.
I am not suggesting that anyone abandon the pursuit of a final diagnosis and settle for a working diagnosis, particularly if EDS is suspected. Just know that the process can take a long time, and it may be possible to get some relief while you wait.
Note: Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Ehlers-Danlos News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Ehlers-Danlos.
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