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Why I Cried Tears of Joy After Being Diagnosed With a Rare Disease

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My whole life, I thought I was the biggest wimp alive — until one day, when I was commiserating with my sister about how we have more aches and pains now that we’re in our 30s. I explained how much pain  and fatigue I have each day, fully expecting her to say something along of the lines of, “Yeah, me too!”

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

She didn’t. Instead, she looked at me and said, “Wow. I couldn’t deal with that everyday.”

It was at that point I realized maybe not everyone felt as bad as me all the time, and maybe I wasn’t just being weak and pathetic. I started asking other friends and family members about their pain levels each day and discovered I had been wrong my entire life.

I decided to write down a list of all of my symptoms and take it to the doctor to see what she said. I’d asked many doctors about my symptoms before, but had never mentioned more than a couple at once.  They would run a few tests that inevitably came back normal and say there was nothing wrong with me. Once complete, my list consisted of hypermobility, joint pain and stiffness, dislocations/subluxations/sprains, back pain, muscle pain and spasms, buckling knees, gastrointestinal issues, chronic fatigue, headaches, severe heat intolerance, an inability to regulate body temperature, easy bruising and scarring, dizziness, brain fog and more. I also had diagnoses of asthma, eczema, acid reflux disease and vocal cord dysfunction.

When I handed the list to my doctor, her eyes widened. She wasn’t even sure where to begin, so she sent me off to a neurologist who ran several tests on me that all came back normal (surprise, surprise). So she referred me to a rheumatologist. The rheumatologist was booked out about six months so I sat back to wait for my appointment. During that time, I started researching my symptoms and realized that my medically complex son, Davy, who had been diagnosed with an unspecified connective tissue disorder, along with my other son, Nano, both had the same symptoms as me to varying degrees.

baby's ankle bent backwards
Hannah’s Instagram post of er son Davy’s hypermobile ankle.

It was around that time that I posted a picture of Davy’s hypermobile ankle on Instagram, and someone asked if he had Ehlers-Danlos syndrome. I immediately started researching it and realized that it fit me and my boys perfectly.

In March 2016, I took Davy in for his regular genetic appointment and mentioned Ehlers-Danlos to his geneticist. I showed her my list of symptoms and it was like a lightbulb went on in the room. She informally diagnosed us both with Ehlers-Danlos syndrome and set up half a clinic day to do an in-depth examination on me and my three other children in June 2016, at which point she would make the diagnosis official.

I cried in the elevator on the way down to the parking garage while Davy jabbered happily to himself in his stroller. I had just received a diagnosis of an incurable, untreatable, progressive genetic disease for both me and my son, and yet, they were tears of joy. After a lifetime of thinking I was a pathetic wimp, I finally knew I wasn’t. My entire life had just been validated and everything made sense. I could stop pushing my body beyond what it was capable of doing in an effort to be normal and start taking care of myself. Even more importantly, I could make sure that whichever of my kids also received the diagnosis, learned to take care of their bodies properly from an early age.

After 30 years, my life finally made sense. It was the best news of my life, but also the worst. I’d always had a hope that I would get better someday, and now I know that not only will I not get better, I will continue to get worse. But knowing the kind of pain my children will have growing up and knowing the struggles they will face… that’s an even harder pill to swallow.

Follow this journey on Sunshine and Spoons.

Originally published: April 28, 2016
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