Becoming Rare: From Diagnosis to Acceptance, to Advocacy

Becoming Rare: From Diagnosis to Acceptance, to Advocacy

Rare is steak cooked to an internal temperature of 120 to 130 F.

Rare are opals found in the Nevada desert.

Rare is finding out who left the toilet paper roll empty.

Rare is not me.

I have spent my life trying to be typical and to fit in without standing out. In August 2006, when I first got sick, I swore it was an allergic reaction to a home remodel and a cold, nothing else. But by the following February, I realized it was much more than just a common cold. I thought it might be a lung infection.

On April 1, 2007, I received a diagnosis of Churg-Strauss syndrome, now known as eosinophilic granulomatosis with polyangiitis (EGPA). I thought it was a joke — it was April Fools’ Day, after all, and I accused my doctor of lying to me.

Even with this unusual diagnosis, I had no idea that I had a rare illness. The prevalence of EGPA is somewhere between 2.4 and 14 per million adults. Yet I thought I could take some medication and be cured. But when no treatments were able to keep my EGPA at bay, I had to travel from California to the Cleveland Clinic in Ohio, to be seen by staff from one of the few vasculitis departments in the country that specializes in my illness. Still, it didn’t occur to me that I had a rare disease.

I didn’t know anyone else with a rare illness, and I naively thought that people with rare diseases always are in wheelchairs or perhaps on oxygen — some visible indication. I was still walking around and going to culinary school. How could I be one of those select people on the planet with a rare illness?

I was in denial.

I didn’t finally realize I was rare until 2008, when I attended my first Vasculitis Foundation symposium. Fewer than two dozen patients with EGPA were there. Many, like me, had never met another EGPA patient in person. All we wanted to do was touch and hug one another.

Suddenly, it hit me: I have a rare illness!

I cried in my hotel room that evening. How could this happen? How was I unexpectedly rare? Over the years, I have had trouble thinking of myself as a person with a rare illness. I am still me: a mother, a wife, and an educator.

I am still surprised when I meet doctors who have never heard of my disease and have to Google it. I have learned over the years that having a rare illness means you can’t expect others to understand what disease you have or how it makes you feel each day. Having a rare condition makes us all educators and advocates, so that the world won’t forget we exist.

Although I am not a perfectly cooked steak, an opal, or a full roll of toilet paper, I am still rare. I am not in a wheelchair or using supplemental oxygen. My rare illness is invisible to others on most days. I walk among people with a little-known ailment, and it is up to me, particularly on Rare Disease Day on Feb. 28, to educate others and let people know that I am rare!

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Note: ANCA Vasculitis 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 ANCA Vasculitis News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to ANCA vasculitis.

4 comments

  1. Dara says:

    Hi Suzzane, thank you for your writing. Brought me comfort today! I live in the California Redwoods too! Would love to connect someday.

    • Suzanne DePaolis says:

      I’m glad I was able to give you some comfort through my writing. Hopefully Vasculitis conferences will start again and we will get to meet.

  2. Helen Miles says:

    74 yr old female ….Australian. diagnosed after 8 months of being handed around to various “specialist” hospital departments. Finally diagnosed with granulomatosis with polyangiitis and “hit hard and fast” with Rituximab, Prednisone and Resprim Forte. Still no support from medical as GP has no idea and diagnosing professor not into explaining. So Google is my only reference…including what is symptoms and what is drug side effects (which I feel is the current situation). Rare? Hate it….becoming depressed and powerless…so far I manage more good days than bad…..but admit to struggling. It would just be nice to talk face to face with a medical.professional who has some knowledge about….. Why me? What can I expect? How can I improve my situation?

    • Suzanne DePaolis says:

      It’s challenging having a rare illness that your doctor may not be familiar with. There are a few Australians in the social media groups with ANCA vasculitis and also EGPA. If you go to http://www.vasculitisfoundation.org They have lots of educational information and lists of doctors familiar with vasculitis in your country.

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