An advocate is born: My hereditary angioedema diagnosis story

The age of 17 is a time when life should be full of possibilities and new beginnings. But for me, it marked the start of a health battle that took nine long years to name.

Living in a group home after giving birth to my daughter six months earlier, I was like many other teenagers — until the day a strange rash appeared on my chest. It was an odd pattern of red, squiggly lines beneath my skin, something that could easily be ignored. So I brushed it off. That evening, though, my hands swelled to the size of cartoonish Hamburger Helper gloves.

The staff at the group home thought it was because I hadn’t washed my hands properly. They sat me down with bowls of Epsom salt water for hours, hoping it would reduce the swelling. When it didn’t, I was finally taken to the hospital emergency room. Eighteen hours later, I left without any answers, just a prescription for steroids.

The swelling subsided, and I moved on. But that was just the beginning of my health journey.

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Over the next nine years, I found myself repeatedly in and out of hospitals, enduring unexplained swelling that extended beyond my hands. My feet, face, hips, and knees — any and every part of my body — would swell without warning.

When Hollie Amadio was finally diagnosed with HAE, she vowed to become an advocate for the rare disease community. (Courtesy of Hollie Amadio)

Along with the swelling came the most excruciating abdominal pain I’ve ever experienced, even after having four children. The pain, accompanied by hot flashes and uncontrollable vomiting, was so intense that ambulances became a familiar sight. I’d spend up to 10 days in the hospital multiple times a year, only to be discharged without answers. And the cycle continuously repeated itself.

This health mystery consumed my life. After giving birth to twins, there were moments when I couldn’t even use my hands to make bottles to feed them. My income was affected because I was constantly out of work because of my unpredictable hospitalizations. I went through unnecessary surgeries, including the removal of my gallbladder just before I turned 18. But no one could connect the dots.

Frustrated and determined, I decided one night that I’d figure these symptoms out on my own. After hours of scouring medical articles and research, I was convinced that I had lupus. I called my primary care doctor and insisted on a referral to a rheumatologist.

That appointment turned out to be the moment that changed everything. After the usual battery of questions and tests, the rheumatologist surprised me with an unexpected hunch. “I don’t think it’s lupus,” she said. “But I have a feeling about something else — something I’ve only diagnosed twice in my 20-year career. It’s rare, and if you don’t know exactly what to test for, you’ll never figure it out.”

She took my blood sample and promised to call with the results. I waited anxiously, torn between fear and hope. When she finally called, her words brought a strange mix of relief and disbelief. “It’s hereditary angioedema,” she said, noting the lifelong, incurable disease.

I never thought I’d be so relieved to hear that I had a rare, incurable condition. But after nine years of living in the dark, I finally had an answer. That diagnosis gave me more than just a name for my symptoms; it gave me validation. It gave me the power to stop wondering what would happen next. I no longer had to worry about whether I could pay my bills each month because I never knew what was coming.

My story is one that many in the hereditary angioedema (HAE) community know all too well. We hear it again and again: misdiagnoses, years without answers, unnecessary surgeries, and overwhelming pain.

Hollie Amadio stops for a photo at the U.S. Hereditary Angioedema Association’s 2023 national summit in Orlando, Florida. (Courtesy of Hollie Amadio)

Finally knowing my diagnosis wasn’t the end of my journey, however. It was the beginning of my work as an advocate. I realized how crucial it is to raise awareness not only for HAE, but all rare diseases. Too many of us live in limbo far too long, and the healthcare system is simply not equipped to recognize or treat these rare conditions.

Today, my passion for advocacy drives me. I’m committed to ensuring that others don’t have to wait a decade or more to get the answers they deserve. We need new legislation that protects us and guarantees us quick and easy access to proper treatments without having to jump through unnecessary hoops. We need more awareness, more research, and more understanding in both the medical community and the public sphere.

Through my advocacy, I hope to shape a future where rare diseases are recognized early, doctors are trained to spot the symptoms, and patients don’t feel like they have to fight every day just to be heard. Hereditary angioedema may not be curable, but raising awareness can change lives. And that’s a fight I’ll never give up.

Note: Angioedema 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 other 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 Angioedema News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to angioedema.