Increased awareness is helpful for those of us with EDS
When I was diagnosed, not many doctors even knew of this syndrome
I’ve been thinking lately how awareness of Ehlers-Danlos syndrome (EDS) has changed over the years. Growing up, I’d never heard of it. The first time I did was as an adult, when a doctor at Georgetown University, where I’d been sent to search for a diagnosis, told me he thought I probably had it. He referred me to the Cardiovascular Connective Tissue Disorder Clinic at Johns Hopkins University, where a few months later I received my official EDS diagnosis at the age of 22.
After that, I went years without meeting another person who has EDS. I always joked that if I had to have something, at least it was “fun” enough to be on the rare diseases list. It was a relief to have a name for the set of symptoms I’d been managing for as long as I could remember.
While most medical practitioners I met after my diagnosis still hadn’t heard of it — and those who had heard of it often hadn’t met a person with it; they only knew of it from medical texts. At least it was a starting point. I eventually found a physical therapist who’d never treated someone with EDS, but was willing to dive in and learn about it.
That therapist listened to me, and as we progressed, we adjusted my program along the way. I was also lucky to find a massage therapist who took the same approach. Between those two modalities, I finally started to get my pain levels under control — after spending my whole life not being entirely aware of how much pain I’d been in!
Finding my tribe
After that, I mostly carried on with my day-to-day life and never made any connections with other people who have EDS. Then a friend who works at Bionews, the parent company of this website, asked if I wanted to write a column for Ehlers-Danlos News. Sure, why not? Suddenly, I was connected with other people who manage issues similar to mine. I learned from them how EDS can manifest quite differently for each person. Still, we all do our best every day to minimize the effects it has on our daily lives.
Just hearing from other people with EDS was great for me. Then, a few years ago, I met someone who has EDS in person for the first time! It was great chatting with her and learning about her experiences, which were both similar to and different from my own. I’ve also discovered in the past few years that most practitioners have now heard of the disease, and some of them are even familiar with treating it.
Awareness about EDS has grown over the years, which in turn leads to more diagnoses. And that helps to create greater awareness in a snowball effect. Today, it’s not unusual for nonmedical people to also have heard of EDS, and some have even shared that they know someone who has it. Years ago, when I was diagnosed, I never could’ve imagined that would be the case.
I now know several people who have EDS, and I have access to an amazing online health community. I hope that despite our different experiences and levels of disease severity, simply knowing that others are out there who understand us will bring comfort, whether you’re a newly diagnosed patient or an expert at managing EDS. We’re all in this together!
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 another 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, and are intended to spark discussion about issues pertaining to Ehlers-Danlos.
About the Author
margaret
I am a retired/disabled family physician finally diagnosed with hEDS after seeing daughter and grandkids working through my stuff, but worse, and a ct angiogram mentioning anyurism.....grandma had one. I think it may be related to metals.....
Emily
Hi Karen. I am 49 with a diagnosis of hEDS.
I was always told I had growing pains as a child and struggled though my teenage years with stretchy bandages from wrist to shoulder and ankle to thigh to support my joints and endless physio for flat feet and TMD.
At 26 my pelvis detached on both sides from my pubic bone during my first pregnancy and an orthopaedic surgeon diagnosed me with JHMS. My second pregnancy five years later with twins was not much better and at 37 a disc collapsed in my neck rendering loss of the use of my arms until specialist surgery took place with further surgery 20 months later. At each pregnancy and both spinal surgeries I haemorrhaged despite doctors reassuring me this would not be the case and finally got referred to a specialist unit for a hEDS diagnosis. I always appear to do the opposite the medical professions expects and the small number who have severe complications. This year I went to have knee reconstruction surgery and felt unheard and everyone ignored specialist EDS opinion I had sought to inform the knee surgeon and anaesthetist. I didn’t get my surgery as my femoral artery was cut through at the start of the surgery and veins taken out of my calf for bypass were unusual due to our tissue fragility. I have been left with permanent vascular and mobility issues that I am still adjusting my life to. God and my church have supported me through this process but more challenges are to come as I am about to have my job contract terminated for ill health and ongoing issues limit daily living. Five times I have undergone surgery now and each time I bleed like a pig and end up in ITU. I am sure many of us feel despondent that it’s never simple with us. I have the gift of evangelism and my voice and mind are intact so God has a plan for me. I have only met one other person with EDS but strongly suspect one of my three sons has it. I also met a rheumatology advanced practitioner last week who specialised in EDS!!! There are specialist units in London (private) and Stanmore and some health professionals who are aware of this but it really needs to be in the medical training curriculum with people like us teaching it. More awareness is needed but like you I’ve seen progress in my lifetime and pray my son gets properly diagnosed and supported.
Robyn
I was Dx with EDS at age 60. My daughter and a niece have been Dx in their thirties and probably two of my mother's sisters had it as well (undiagnosed in their lifetimes, but with many of the same issues we are having )
Looking back I have had symptoms all my life. As a ten year old mum took me to the family doctor who Dx "growing pains".
When I complained that the compulsory Star Jumps were causing a lot of pain in my knees and ankles I was told "no pain, no gain".
I have always been flat footed and when I was eighteen I stopped playing Netball because I "felt like my feet had been cut off and replaced by two socks full of gravel", I could literally feel the bones grinding against each other as they moved around. I went through my entire schooling thinking that I was just a big whoos with a low pain threshold, no one else seemed to be troubled by things that caused me pain ( and the Dr said there was nothing wrong with me).
When I was 29 and in labour I asked the nurse how long before I reached the pain level of the woman screaming in the next delivery suite. "Don't worry. you are in a lot more pain than she is, she's Mediterranean ! ". A short while later , in the final stage of labour, My right hip was dislocated (when my knee was up near my ear)
It was around this time that I started to think that , in fact, I had a high pain threshold..
At age 55 my left foot started to roll in and the front part of my foot twisted out , I was literally walking on the inside of my ankle. The foot surgeon said it was the first complete dislocation of the subtalar joint that he had ever seen. I had a triple arthrodesis fusing my foot.
Age 57 a spinal fusion from L3-L5.
Age 60 complete dislocation of my right subtalar joint, Only the second my foot surgeon had ever seen . I reminded him that the first one was my left foot. He fused my right foot too.
Age 64 rotator cuff pathology, both shoulders dislocating, I was booked for a left shoulder reconstruction which was cancelled the day before the surgery when the surgeon rang me and said I really needed reverse shoulder replacements. He didn't perform them on anyone aged less than 70 because there is no long term data on results.
Age 65 my right foot collapsed and I required a complex foot reconstruction. I spent three months p/o in a wheel chair and when I was given the go ahead to weight bear again I couldn't stand up . My centre of gravity had shifted forward and if I didn't hold onto something I would fall flat on my face. The spinal surgeon confirmed that I had "flat back" , my lumbar curve had straightened out above the L3-L5 fusion and my upper spine was indeed leaning forward. He could fix it , he assured me, with as little as three separate spinal procedures.(1) going in through the abdomen he would insert a wedge above L3 to tilt the spine back. Then (2) going in through my left side he would remove all the hardware currently fusing L3-L5. Finally , a week later (3) go in through my back and fuse everything from T10-pelvis.I asked for a realistic prognosis and he said " I can fix your back, surviving the surgeries is the tricky part". I decided that the potential benefits didn't outweigh the risks.
I have been using a three wheel walker to walk around . Last April my little dog tripped me over, as I went over my knee caught on the side of a cupboard and twisted my leg out about 90 degrees . It tore the cartilage around the head of my femur and since then I have had pain and instability . I had an appointment to see an orthopaedic hip and knee surgeon and was having weekly physiotherapy. The day before the appointment I fell in the carpark as I was leaving the physiotherapist and broke my femur. So instead of a consultation regarding my hip I had a titanium rod inserted in my femur.
The gerontologist told me I must have osteoporosis to have broken a femur after a standing fall and when discharged from hospital I should have a bone mineral density test and start taking 1000 iu of Vitamin D daily. I told her that I have been taking 4000 iu of Vit D daily for the past 12 years.
I had the BMD test which revealed that I have the readings of a healthy 40 year old, (I am 68) upper range of normal. Nowhere near the osteoporosis levels.
The FRAX assessment (estimating my risk of future fractures) rated my 10 year risk of fracturing a hip at 0.1%.
How then did I fracture my femur from a standing fall? I went to bed wondering how, and woke up with the answer.
I will use the analogy of a brick wall. The bricks are my healthy bone minerals, but unfortunately the mortar holding the bricks together is my dodgy EDS collagen.
I think I am glad that I had a late diagnosis, I didn't know what was likely to happen in my future. I feel sorry for my daughter and niece who can see very clearly what may be in their futures.