Living with Rare Disease: Earning My Stripes

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“When you hear the sound of hooves, think horses, not zebras.” This phrase is taught to medical students throughout their training. In medicine, the term “zebra” is used in reference to a rare disease or condition. Statistically this makes sense, sheer numbers are on the side of the common ailment. However, when you are a zebra, you spend years, sometimes decades, being told you are a horse, when all along, you are a zebra. This is frustrating, painful, and sometimes deadly. It can be a very long and bumpy road to earn your stripes.

I have Hereditary Angioedema (HAE), a rare disease caused by a defect in the the gene that controls a blood protein called C1 inhibitor. When I am having an HAE attack I experience swelling (edema) in the abdomen, hands, feet, face and/or airway. HAE is very rare and the attacks mimic a variety of more common ailments. For me, this led to years of misdiagnoses and treatment for diseases I didn’t have. Intuition told me that we were not on the right path, so I made the mistake of giving up. I gave up on myself and on the medical community. Fortunately, through sheer luck and the persistence of a caring friend, I finally got a diagnosis, which eventually led to proper treatment.

When my lips and tongue swell, it looks like a common allergic reaction, my face blows up like a balloon, my lips swell to ten times their normal size so I look like a cartoon duck, or my tongue will swell so large I can’t close my mouth and get scallop marks on my tongue from my teeth. Throughout my adult life, I have sat through multiple doses of epinephrine and steroids in the emergency room, with my heart pounding out of my chest, only to be discharged hours later still looking like a lip augmentation gone horribly wrong. Discharged because they couldn’t figure out what was causing the swelling, often with the clinical note “Patient seems overly anxious about swelling, perhaps has an anxiety problem.” My gut said it was something more – literally and figuratively.

There are several different types of abdominal attacks, depending on where the swelling is located, but they are all excruciatingly painful. There are the higher swells that come with the endless vomiting, lying on the bathroom floor for hours. My girth can increase up to 28 centimeters, leaving me looking very pregnant, when I had a flatish stomach an hour before. The pain from these swells is often compared to passing a gallstone. In other words – OUCH! The lower swells are more like intense bouts of the flu; everything in the body must come out, a very unpleasant process. Once again, I would either lay on the bathroom floor in agony or seek treatment, leading to rounds of inconclusive tests and a discharge for either “unspecified abdominal pain from a virus” or “IBS with an anxiety problem.” My gut still said it was something more.

I became completely ER adverse; it never helped and each time I left without any answers. Like many HAE patients, they assumed my pain was psychosomatic or that I was exaggerating the severity of the pain. Struggling with pain and swelling, I was also making the rounds of doctors looking for answers. After exploratory procedures such as endoscopies and colonoscopies provided vague diagnosis such as IBS, and rounds of blood work showed anomalies that “could be” lupus or some other autoimmune-related illness, I simply gave up. For more than two decades, I suffered through the attacks the best I could on my own, occasionally getting frustrated enough to submit to another round of testing or going to the ER for a particularly bad attack. I went through rounds of medication for IBS, Lupus, Depression, and Anxiety, none of which helped at all, many of which made me feel worse. Luckily, the attacks weren’t that frequent, but I would always swell if I experienced any trauma or extreme stress. My gut knew it was something more.

As I started getting older, the attacks became more frequent and I became less able to hide the swells and function normally. Everything changed the night a friend forced me to go to the ER for lips that were so huge and disfigured that I could barely breathe through my nose. I had zero expectations; we went to a small ER in a small town, where I finally got the diagnosis that would change my life. The young doctor, she seriously looked like she was a teenager, told me that she thought I had a very rare condition, “Hereditary Angioedema,” that was causing the swelling. I will never forget that night, sitting in the ER, consulting doctor Google, and for the first time finding something that absolutely “fit” my symptoms. Suddenly, everything made sense. I was admitted to the hospital that night, and the next day they were able to administer my first Hereditary Angioedema treatment, a truly life-changing moment. My gut now told me I was finally on the right track!

It still took more than a year to get to the point of being able to treat Hereditary Angioedema. The diagnosis process is difficult and the medications are expensive and complicated, but that is a story for another day. I encourage anyone facing complex medical issues without a diagnosis to trust your gut and keep searching until they find that medical professional who is willing to listen for zebras.

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