My FAQs for aHUS

I like that series of Books for Dummies, authored by experts in various fields. Written for the masses with no experience required, they employ a straightforward vocabulary in an easy-to-follow format.

Shakespeare, calculus, cooking, quantum physics, beer, and Ireland are among the subjects tackled in these paperback primers. Each book provides just enough facts and terms to get the reader through a cocktail party conversation or job interview without feeling like a fool.

When my husband was diagnosed with aHUS, I read everything I could find on the topic. I found very little, and most of it was written by and for Really Smart Medical Professionals. Those articles made me feel really dumb.

I wished I had a simple guide to get me through the conversations with the brilliant doctors who were trying to save my beloved’s life. However, if every aHUS patient in the United States bought a book, sales would be well under a thousand copies.

Thus, there are no books for us “dummies” in the rare disease community. So, I have compiled my own short version based on my initial questions and those I have responded to from family and friends.

Please note: This is not medical information, which is written by or for professionals. This is simply how I comprehend the disease and its implications for my husband and me, and how I explain it to others.

With that caveat, here are the results of my in-depth experience and rudimentary understanding. I call it “FAQs for aHUS” or, to employ my Irish husband’s slang term for the informationally challenged, “aHUS FOR EEJITS.”

Q: I’ve never heard of aHUS. What do those letters stand for?
A: Atypical hemolytic uremic syndrome.

Q: What does that even mean?
A: Hemolytic refers to the blood. aHUS patients experience hemolysis, which is death of red blood cells. Uremic refers to the kidneys, which can be affected to the point of failure.

Q: What does atypical mean?
A: It means the diagnosis fits the symptoms but the cause has not been identified. Typical HUS patients have a genetic marker or a triggering event; atypical patients manifest the same symptoms but without a clear cause.

Q: What’s a syndrome?
A: It’s a collection of symptoms, a condition. It’s manageable but not curable.

Q: I still don’t understand. What kind of disease is it?
A: It’s a problem with the immune system.

Q: Oh … so it’s like AIDS?
A: No, it’s kind of like the opposite. It is an overreaction of the immune system, which does its job but then doesn’t know when to stop.

Q: What’s the treatment?
A: Hospitalization at the onset, with some aggressive (and really hard to pronounce and spell) procedures to treat the blood and kidneys. Then, regular bloodwork forever. That monitors blood counts and kidney function. If the numbers are out of sorts, the patient gets drug infusions every couple weeks.

Q: Where do you get the infusions?
A: At the local cancer center.

Q: Oh … so it’s a cancer and the treatment is chemo?
A: No, it’s not cancer but the equipment to administer the medicine is the same as is used for chemotherapy. That’s why we go to the cancer center. But it’s not chemo and there is no hair loss.

Q: How does aHUS affect the patient? And the family?
A: It’s not painful or necessarily degenerative. The main symptom patients deal with is fatigue, which can be extreme. But as with any chronic condition, it introduces a lot of inconvenience and details, like dealing with doctors’ appointments, lab work, and insurance coverage. Additionally, we experience constant worry and uncertainty because ordinary medical issues like colds, flu, and food poisoning become extraordinary risks that could trigger a potentially fatal episode of aHUS.

Q: What is the prognosis?
A: Hard to tell. The disease has not been identified for long and is very rare so there just isn’t much information yet.

Q: Is there hope?
A: Yes! Five years ago, we beat the odds for fatality rate and kidney failure at the onset. Now there are twice as many medicines approved for treatment as when we got the diagnosis — which brings the total to two. That’s enough to encourage us.

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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 neuromyelitis optica spectrum disorder.