Doctors missed my debilitating condition for 20 years – I diagnosed myself

Doctors missed my debilitating condition for 20 years – I diagnosed myself

How did no one connect the dots and diagnose before me? (Photo: Punteha van Terheiden)

Most evenings I browse TikTok to unwind from the stress of the day.

One night last summer, instead of my usual dose of stupid cats and Karen in the wild, a video slipped onto my FYP that made my hair stand on end.

In it, a 30-year-old woman talked about the unusually flexible things that her body could do.

“This,” she said, pointing to her bent knees, “is not normal.” She continued to pull her little finger and thumb back more than 90 degrees, moving her shoulders forward towards each other, stretching the skin on her hands, placing her hands on the floor with straight legs. None of them were normal, she explained.

I stood in front of the mirror and reproduced her movements during the video playback. I could do almost everything that she did.

The video explained that her hypermobility – overflexible joints – and other symptoms such as reflux, joint pain, daily dislocations, unusual injuries and increasing immobility were caused by a genetic connective tissue disorder called Ehlers-Danlos hypermobility syndrome.

I immediately went to the NHS and EDS UK charity websites and looked through the symptom and patient information pages. I watched more TikTok #heds videos, made a list of all unexplained injuries and symptoms, found a GP checklist, and hid the hEDS clinical criteria deep.

The more I researched, the more the last two decades of debilitating, increasingly immobilizing and as yet unexplained pain in my body made more sense.

My hip cartilage tears during pregnancy, my wrist tendons bulge an inch when I write or lift a small suitcase, my spinal disc bursts while helping someone up stairs, my knee tendons “wear out” from driving a car with a manual transmission, my jaw joint falls out, the coccyx twists to one side, the pelvic joints slide off …

I showed the list to my husband Andy and his eyebrows shot up. “That might explain everything. As my daily de facto guardian; helping me dress, cook, lift, drive, and more, no one understood my failing health better than he did.

I couldn’t bend over, sit on the floor, stand long enough to boil a kettle, pick up or even sometimes hug our daughter, walk a lot, even with a cane.

After our intensive research, Andy and I concluded that EDS caused by defective collagen—the molecular building blocks of the body—explained all my pain.

So why has none of the dozens of therapists, consultants, surgeons, physical therapists, or chiropractors who have treated me since my early teens put it together? How did no one connect the dots and diagnose before me?

Instead, I was given strong anti-inflammatories, opiates, and a host of other medications to relieve my symptoms, but none of them helped.

Now I firmly took everything into my own hands.

I put together a thick folder full of my family’s medical history, which showed that one side of my family was afflicted with the classic signs of hEDS – it turns out it’s genetic.

Speaking for 11 years before I was diagnosed with endometriosis, I knew I had to be fully equipped to have doctors listen to me about this.

If I hadn’t stumbled across this video on TikTok, I still wouldn’t know I have the disease (Photo: Punteha van Terheiden)

I became a member of EDS UK which gave me access to online support groups at international, national and local levels. As I read the posts, I was shocked to see that almost all of the health issues I struggled with were apparently due to hEDS and, unlike the general public, are prevalent in the hEDS community.

I am honored to be able to pay for private healthcare so I started researching which specialist I should go to by asking online who is doing well in the Midlands.

My search eventually narrowed down to rheumatologists specializing in hEDS and connective tissue diseases. Otherwise, my hEDS may very well be missed as I have heard stories from other people with the condition who found counselors who did not believe it was a real illness.

Finally, armed with my clinical criteria notes, GP checklist, complete family history, and the name of one particular private rheumatologist I wanted to see, I booked a double appointment with one sympathetic GP in our surgery.

She struggled for some time to deal with my immense pain, and although it took two months to see her face to face, I happily waited.

When I met her in November and told her my hEDS theory, she said gratefully, “I think you’re right.” She gave me a referral, and four months later—because even privately the demand for hEDS specialists is high—I visited the rheumatologist I had sought out.

She listened to everything I had previously told the therapist, took a detailed medical history, including 13 surgeries I had, and performed an extensive full body examination.

Then she sat me down and said, “You’re right. You have Ehlers-Danlos Hypermobility Syndrome.

I felt relief, sadness and anger at the same time.

Relief that I have an answer to all my suffering, sadness at the lack of a cure, and anger at the fact that this progressive disease was not diagnosed 20 years ago.

If that were the case, I would have known that some of my pain is due to daily joint dislocations, so I wouldn’t have done certain things or looked for strength to strengthen my body when my pain and inflammation weren’t so debilitating yet.

I wouldn’t spend 20 years overcoming pain or ignoring trauma.

Ironically, the unofficial EDS slogan reads: “When you can’t tie problems, think connective tissues.” And not a single doctor that I saw did this.

EDS has 14 different types, one rarer than the other. The most common of these is hypermobility – estimated at 1 in 5,000 – but the only one that has not yet been genetically tested. The scientists are coming.

In May, EDS Awareness Month, I’m adding my voice to the #enoughisenough charity campaign, advocating for earlier diagnosis and better care and management for the future.

I fall into the category of unfortunate patients who cannot endure even the mildest physical therapy without further injury, so I am holding on to straws to find a way to improve my health.

I am only 36 years old and sliding into increasing disability and immobility, and I fully understand why hEDS patients so often feel left out and left to fend for themselves in their medical care.

Ten years ago it was nearly impossible to draw attention to my endometriosis, but now the media is bringing tangible change and hope to sufferers, including increased public funding for research.

Patients with SED need the same. If I hadn’t stumbled upon this video on TikTok, I still wouldn’t know I have this disease. The burden of diagnosis should be on doctors, not patients, and we need better care.

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