My community helps me navigate the ultra-rare reality of living with aHUS
Being this rare makes me a celebrity in the medical world, but I was also lonely
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Many people may consider something rare as being unique. One of a kind. Nothing else is like it. Being rare can suggest exclusivity, or being in a class of its own. For me, rare means dealing with five different rare diseases.
They are lupus, hypermobile Ehlers-Danlos syndrome (EDS), immune thrombocytopenia (ITP), thrombotic thrombocytopenia (TTP), and atypical hemolytic uremic syndrome (aHUS), which is considered my primary and deadliest disease.
Having five rare diseases comes with a bit of celebrity-like status in the medical world. It’s like making a grand entrance in slow motion, with a strategically timed hair toss, flash of a smile, and a wink. New doctors and nurses love seeing my chart come across their desk. I offer medical teams a challenge that many would never otherwise see in their entire career.
What makes a rare disease rare? In the U.S., the Orphan Drug Act defines a rare disease as one that affects fewer than 200,000 people. The National Organization for Rare Diseases (NORD) tallies more than 10,000 rare diseases.
Who’s the rarest of them all?
But how rare am I? Let’s compare statistics. The more “common” rare disease, cystic fibrosis, occurs in the U.S. at a rate of around 1 in 3,200 white births, 1 in 4,000 Hispanic births, and 1 in 15,000 Black births. Some forms of EDS occur in around 1 in every 5,000 people worldwide. Lupus affects about 5 million people, while ITP is believed to affect about 200,000. TTP is believed to affect about 3.7 people out of a million, making it significantly rarer.
But how rare is aHUS, my rarest disease? The aHUS Alliance reports only 1-2 cases per 1 million people worldwide. That makes it ultra-rare, meaning it can be difficult for patients and medical staff to find information and support about the disease. Access to current resources and treatments can be imperative to a patient’s survival. When someone has an active aHUS attack, time can be of the essence. Quickly identifying and treating aHUS can be the difference between life and death.
When I nearly died in September 2020 after my first aHUS attack, I was completely lost and overwhelmed. I sat alone in a hospital for nearly two months with this rare diagnosis and hardly any information about it. I went to Google and social media to find anything I could, and to my surprise, I found two Facebook support groups. They were a welcome sight. Not only did they offer a wealth of information about the disease, but they also made me feel less alone. I found people who knew exactly what I was going through.
A wealth of new information
In the hospital, there was so much to take in. All of this new information was just thrown at me during super short, hazy updates from doctors that happened after they’d wake me from a drug-induced dead sleep at 5 a.m. Being told crucial information while half-asleep was hard enough, but being told all kinds of new, long medical terms was even harder. That’s where social media really helped me.
Five years into my journey, those pages have exploded with information and resources, attracting people with recent diagnoses. I’ve also found information on other sites, including NORD, Alexion Pharmaceuticals (which originally manufactured Soliris [eculizumab]), the National Kidney Foundation, and aHUS News, among others.
Live, in-person events hosted by the aHUS Alliance, the National Kidney Foundation, and the United States Thrombotic Microangiopathy Alliance have also been helpful. These events bring together patients with similar issues and put them face-to-face with experts in the rare disease world. That gives patients the rare opportunity to ask questions, get information, and network.
In-person, social media, and other online resources have been invaluable during my aHUS journey. They are game changers that help me connect with others who’ve been through the same difficulties, and they’ve even given me new treatment options to pursue.
Being rare is not where my story ends. It’s just the beginning. Our diseases don’t define who we are. It just showcases what we might have to endure. But the rare disease community and resources like Bionews, the parent company of this website, make being rare much less lonely.
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.
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