I had a relatively healthy and normal childhood, I thought. However, I had an awful lot of emergency room visits for dislocated elbow, fainting episodes, injuries requiring stitches, broken bones, head injuries, etc. I also had frequent stomach aches since I can remember, and chronic nausea starting early teens. Chronic fatigue also started early teens. I learned to live with it. After various work-ups, I ended up having surgery to remove nasal polyps when I was 14 years old. That was supposed to help with sinus issues, and hopefully fatigue as well, if fatigue was related to decreased ability to breathe freely through my nose. It didn't help with fatigue. It didn't fully resolve sinus issues and I was informed polyps were back again ten years later. I chose to avoid surgery.
Fast forward a few years, and I injured my Achilles tendon just reaching to wash off the top of something. It would not heal. I limped off and on for years, confused as to why it would not heal, but no idea what to do.
Another several years later and a car accident (I was rear ended, it totaled the car), introduced me to constant, never-ending neck and back pain. I could not figure out why my body would not heal. I could not figure out why the pain would not go away.
It took another 15 years, more surgeries, tons of testing, lots of work-up by numerous specialists, to finally be diagnosed with EDS. That is the very brief summary, presented as dramatic understatement. There was so much discouragement, frustration, even despair at times during those years. Multiple misdiagnoses. I was incorrectly diagnosed with fibromyalgia (this was later ruled out by a different physician). I was tested for myasthenia gravis, glycogen storage diseases, mitochondrial disease, multiple sclerosis, etc. I lived many years with no diagnosis, but with my medical team knowing there was something underlying the numerous symptoms.
How is EDS typically diagnosed? It is often suspected by physical therapist, orthopedist, possibly primary care physician. Referral is made to a geneticist. Based on clinical signs and symptoms, the type of EDS is determined, then confirmed with genetic testing for most types. The most common type of Ehlers-Danlos syndrome, the hypermobile type, does not have the gene(s) identified yet. Thus, there is no genetic test for it. Classical EDS is second most common, vascular EDS is third most common, but is rare, more serious.
How is EDS treated? This varies dramatically. For some people with EDS, a rheumatologist manages things. For others, their primary care physician is the one who manages things. What are the treatments? Essentially trial and error. Physical therapy to help strengthen to support the joints is important. There is no cure. There is no specific treatment plan that works for all.
How did I come to be diagnosed? My orthopedic surgeon for my hips suspected I had EDS, recommended I be evaluated. I knew he was familiar with EDS, trusted him, so followed through on this recommendation even though I was convinced I was not hypermobile, could not have EDS. I saw a rheumatologist who said I was not hypermobile, not worth referring to genetics, dismissed concerns. However, she had told me she was not familiar with EDS. I knew my hip surgeon was. My physical therapist encouraged me to keep pushing for answers as she knew there was something. I ended up seeing a family medicine physician who was familiar with EDS. It turns out she has EDS herself. She easily found my numerous characteristics, determined that although it is subtle, I do have hypermobility. She diagnosed me with classical EDS. This was 2017, shortly before the new diagnostic criteria were released. Thus, at the time, genetic testing for classical EDS was considered 50% accurate, I was told it was not worth the expense. When the criteria changed, it was stated genetic testing for classical EDS was then 80-90% accurate, was recommended to be done. However, a negative test did not rule out a clinical diagnosis. Since in my case we needed to know what we were dealing with to better inform surgery decisions, genetic testing was never pursued.
We are pretty sure my orthopedic surgeries are a result of the EDS. Both hips have had surgery, both shoulders have issues. These are a mix of laxity, instability, with structural abnormalities.
Over a year after diagnosis, I am still grateful to finally know what was causing so many different issues. I am still learning how to manage all of it. Using compression clothes, kinesiology tape, gentle bracing to help support joints. Working on strengthening in physical therapy. Managing mast cell activation syndrome (MCAS) with antihistamines, mast cell stabilizers. MCAS seems to be driver of flares in most instances with me.
Resources
March 2017 special edition of The American Journal of Medical Genetics devoted to EDS
2017 classifications of EDS types
March 2017 Classical EDS
MCAS & EDS
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