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It Took Me 26 Years to Be Diagnosed With Ehlers-Danlos Syndrome

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In the early days of our relationship, my then boyfriend (now husband of 14 years) would laugh when I stumbled during our walks. He assumed I did it to get closer to him. “You’re such a klutz,” he’d tease. As the stumbles became worse, his laughter turned to concern. We’d be out for a walk when my ankle would suddenly invert, the bone hitting the ground before the rest of me followed. Sometimes I could catch myself before the inevitable fall. Other times I’d hit the ground. Hard.

• What is Ehlers-Danlos Syndrome?
• What Are Common Ehlers-Danlos Syndrome Symptoms?

I have struggled with chronic pain, subluxations (partial dislocations) and dislocations since early childhood. I can clasp my hands together and skip using my arms as a rope. My shoulders move around so much they cause tears in my rotator cuffs. My right hip is similar, causing tears in my sacrum. My elbows are so painful that I can’t use my arms to lift the bed sheets off my body. You’ll often find me using a variety of aids – from wrist, elbow, knee and ankle braces to a sling, crutches or a cane to help me stay stable.

woman using walking devices and standing in front of large building

When I turned 20, new symptoms cropped up. Sometimes my heart races for no reason, leaving me breathless. I feel nauseous, sweaty and dizzy when I stand up from sitting or if I stand still for more than two minutes. I become bloated after eating even the tiniest of meals and consuming certain foods will cause me to vomit, have diarrhea and get horrible abdominal pains.

Sound like the musings of a hypochondriac? You’re not alone if you think that. Every doctor I saw for 26 years dismissed my complaints with phrases such as: “You look fine,” “You’re just a bit clumsy,” “Your x-rays are clear,” “Your EKG is great” or “You have a touch of IBS. It’s nothing to worry about.”

I knew they were wrong, but didn’t know how to prove it.

Finally, a Diagnosis

My frustration continued until I was 27 and met a GP in Toronto who was able to finally fit the pieces of my medical puzzle together. After taking an extensive history and performing multiple tests (including asking me to place my hands flat on the floor while bending over with straight knees and pull my thumb back to touch my wrist) he diagnosed me with the hypermobile form of Ehlers-Danlos syndrome, also known as hEDS.

EDS is a group of multi-systemic genetic disorders that affect connective tissues (collagen, in particular). Like glue, these tissues provide strength and support to our skin, bones, digestive system, blood vessels and other organs. They also support the tissues (i.e. ligaments, cartilage and tendons) in and around our joints.

woman standing outside near her home

What Are the Symptoms?

Each affected person suffers with hEDS in a different way, but the following symptoms are common for many:

– Dislocations
– Subluxations
– Smooth, stretchy skin
– Chronic pain
– Chronic fatigue
– Gastrointestinal disorders
– Rupture of large arteries (this can occur in hEDS patients, but is more
prominent in the vascular form of EDS)
– Immune system complications
– Gynecological issues
– Autonomic dysfunction such as postural orthostatic tachycardia syndrome (POTS), which causes low blood pressure, increased heart rate, dizziness and fainting episodes

Who Gets It?

According to the Hypermobility Syndromes Association, hEDS is inherited and affects one in about 5,000 people worldwide. In a recent paper published in the American Journal of Medical Genetics, researchers claim, “hEDS is likely the most common systemic inherited connective tissue disorder in humans.” They say hEDS affects 255 million people worldwide, 10 million of whom live in the US. That’s a huge number of people affected by a disorder the medical community knows little about.

How Is It Treated?

There is no cure for any of the Ehlers-Danlos syndromes. Since hEDS affects so many parts of the body, each symptom must be treated separately. Physiotherapy is important to strengthen muscles around the joints to reduce the risk of dislocations. I do special exercises daily and attend in-clinic sessions numerous times a month. In some cases, surgery is also advisable to repair (and possibly tighten) damaged joints. I’ve had four surgeries so far (one on each shoulder, my right ankle and my right elbow) with another to my left elbow on the horizon.

Altering your nutrition regimen can be beneficial for those with
gastrointestinal complaints and can help reduce joint pain and inflammation. I eat a special diet (high in salt and water (for POTS) with no wheat, garlic, dairy or leeks and little sugar) to help reduce inflammation and keep my stomach issues at bay.

Pain medications can also be useful, but it’s important to see a medical
professional to find out which meds work best for you. I’ve tried a ton (including celebrex, pregablin, diclofenac, hydrocodone, tramadol and lidocaine patches). None seem to work for me, but that doesn’t mean they won’t for others.

How Is EDS Diagnosed?

This past March, an international consortium of more than 90 EDS experts published new diagnostic criteria (for the first time in 20 years) along with management and care guidelines in the American Journal of Medical Genetics. Diagnosis includes measuring the hypermobility of multiple joints based on the Beighton Score, discovering an immediate family history of the disorder and finding widespread symptoms throughout the body, among other qualifications. Hopefully this new criteria and increased awareness will help prevent others from struggling for decades without answers.

Despite being told for years by doctors, friends and family members that my symptoms were nothing to worry about, I knew something was
seriously wrong with my body. Like so many others who have EDS, I felt frustrated, unheard and often depressed by my condition. Finally getting a diagnosis helped me to heal emotionally and allowed me to gain more knowledge about this disease so I could better manage my numerous symptoms.

As many who struggle with EDS will tell you, the worst part of living with an invisible illness isn’t the chronic pain, dislocations or exhaustion; it’s being made to feel as if your complaints are unfounded. If you think something’s wrong with your body, you’re most likely right. Believe in yourself and never stop searching for answers.

Originally published: June 2, 2017
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