As rare disease statistics go, my case of aHUS is unusually rare

Rare diseases are, by definition, uncommon, but I’ve been surprised by how many people are affected by them. About 1 in 10 people in the United States has a rare disease, or around 30 million people. So it’s likely you know someone who does.

But as Rare Disease Day on Feb. 28 approaches, it’s good to remember that some really rare people exist in the realm of the rare. Like me.

I was diagnosed with atypical hemolytic uremic syndrome (aHUS) after I almost died in September 2020. I’d of course never heard of the disease. In the United States, it occurs in only about 1 out of 500,000 people, or around 900 people in the country.

One of my doctors compared its numbers to those of dissociative identity disorder, which occurs in between 0.01% and 1% of the population. Most have heard of that condition, perhaps from seeing movies that use its former name, multiple personality disorder (think the 1976 TV movie “Sybil,” remade in 2007). But most doctors will never have the opportunity to see a case in their lifetimes. The same is true of aHUS.

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After more testing, my doctors discovered that my case was even rarer than common aHUS. I have the thrombomodulin (THBD) mutation, which occurs in between 3% and 5% of all aHUS patients. But what does this mean? How does having this rare gene mutation make my aHUS journey different?

My rare gene mutation is also a huge factor when I apply for disability status. Some people who have aHUS develop the disease and have one major attack or activation, and that’s it. Many people heal over time and are able to stop taking infusions. Because of this, I’ve twice been denied disability status.

A typical judge looking over my case has no idea what each aHUS mutation means, which is a perfect reason why I wish more people were aware of this disease. It’s likely a judge looks at the number of aHUS patients who have minimal symptoms or none at all. Given my young age, the judge might make that assumption for me.

And as if I don’t have enough rare statistics and complications, it turns out that the number of Black Americans hospitalized with aHUS is also on the rise. And I’m Black. In the U.S., Black aHUS hospitalizations increased from 4.19% in 2007 to 19.13% in 2018. We’re the only ethnic group in the United States that is seeing that increase. Yet the disease isn’t even on the radar for many in the Black community.

I’m not sure if I know the answers to raising awareness about my rare mutation. I think it’s important to spread awareness about all of the rare diseases and subgroups. It’s monumental just to connect anyone who lives with a rare disease or open a dialogue within the mainstream medical world.

I love teaching. My degree is in early childhood education, and I miss the classroom so much that it hurts sometimes. But being thrust into the medical world (whether I liked it or not ) has granted me an opportunity to teach in a different capacity.

Sharing our journeys, the good, the bad, or the ugly, is a great way to start. Connecting, learning, constructing, and using social platforms, making information easily accessible, and having open, honest conversations are where it all begins.

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.