Sometimes I forget just how rare living with aHUS is

“So is this normal for you?” My hematologist crossed one arm over his chest and supported his chin with one hand as he gave me a concerned and puzzled look. My blood pressure was 175/146 mmHg, which is considered very high. I sighed.

“Yes, my blood pressure has been mostly uncontrolled for the past three years since I went off of amlodipine [a blood pressure medicine, often known by its brand name Norvasc], even with the three blood pressure medications I’m now on.”

I could sense his worry wasn’t eased at all by my telling him that, so I added, “You can check my previous pressures in my chart from each previous infusion, and you’ll see it’s always an issue. I know it’s high, but I have to have the infusion either way.” My hematologist nodded his head and agreed, thus authorizing my Soliris (eculizumab) infusion that day for my rare disease.

Sometimes I forget how truly rare I am.

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I was at one of my biweekly infusions for atypical hemolytic uremic syndrome (aHUS). I nearly died from this ultrarare disease in 2020, when it permanently damaged several organs and changed my life forever.

But living with aHUS and its comorbidities is all-consuming. It’s now just a part of my daily life. When I’m treated by new doctors and nurses, I forget how shocking my daily “normalcies” can be.

My disease occurs in only one to two people per million. To better explain that number, the aHUS Alliance notes that of 1 million people in the United States, around 49,000 will have diabetes, 650 will have one of the 7,000-plus known rare diseases, and only one or two will have aHUS.

The alliance further cites global estimates that between 80,000-192,000 people total have aHUS. I have the rarest gene mutation of the disease, a thrombomodulin gene mutation, which occurs in only 5% of all cases. I’ve been told that’s only 45 of the U.S. cases, which is a wild number to consider. I never felt truly rare until I learned these numbers awhile back.

I’m remembering that aHUS is shocking

In most of my appointments with my new hematologist, he’s simply asked me a lot of questions — those specific to me but also to others in the aHUS community, about resources, experiences, and disease prevalence. He’s even wondering if he has other patients with the disease, based on several odd symptoms that have never added up to one diagnosis.

Since my family and I recently moved, I have upcoming appointments with a new nephrologist and new primary care physician. I’ll need to mentally prepare myself for the “shock factor” that I’ll bring to any appointment. And of course, I’ll have to explain and relive my whole rare disease origin story.

It’s therefore amusing to me when I go to appointments and scare my new caregivers. Here’s what comes up: my insanely low kidney function, even though I’m off dialysis; my low platelets and low hemoglobin; my absurdly high blood pressure; and so many other fun medical quirks. Who knew being rare could be fun, too?

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