Taylor Coffman , 2025-04-18 08:30:00
In 2022, I gave birth to a healthy baby girl and triggered a wildly violent chain of events: multiple organ failure, hemorrhaging, blood clots in many of my major organs, and a rattled medical team working tirelessly to keep me alive.
For five weeks, I rotated in and out of the ICU, near death. My husband got a call in the middle of the night while I was in an induced coma to prepare him for the possibility of raising his little girl without her mother.
But in the midst of the chaos, I was also incredibly lucky. As my kidneys failed the day after giving birth, my nephrologist flagged unusual labs and pulled in a hematologist who read his messages on a weekend. By the end of the day, based on an educated hunch, I was given a lifesaving drug to treat a possible rare disease — one of the 5% of rare diseases with an approved treatment.
And they were right, thank goodness.
After a grueling hospital stay, nine months on dialysis, and a heap of miracles, my kidneys recovered a great deal and I’m doing astoundingly well all things considered. And every eight weeks, I have an infusion to keep it that way.
What was my rare disease, you wonder? Well, the answer to that is frustratingly complex.
I don’t know my disease’s name definitively. And it’s not because my diagnosis changed.
When I left the hospital, my clinicians said I had atypical hemolytic uremic syndrome, or aHUS. However, there’s a movement to call it complement-mediated thrombotic microangiopathy, or Cm-TMA.
When I seek clarity in the International Classification of Diseases (ICD), which is managed by World Health Organization (WHO), I find it’s just listed under other hemolytic uremic syndrome. The listing says that my disease could also be called secondary hemolytic-uremic syndrome.
The National Kidney Foundation even embarked on a three-year project aimed at bringing the debate to an end. The working group published its revised nomenclature proposal in September 2024. Under their framework, my disease name is fluid: pregnancy-induced thrombotic microangiopathy (P-TMA) at onset to pregnancy-induced no known gene complement-mediated thrombotic microangiopathy (PNKGC-TMA) or maybe just no known gene complement-mediated thrombotic Microangiopathy (NKGC-TMA).
Did I lose anyone who doesn’t have an M.D.? It’s alphabet soup. And the National Kidney Foundation working group’s approach just raises more questions.
For example, should thrombotic microangiopathy (TMA), or tiny blood clots, be the main star in the name? There are way more TMAs in the general population than for our disease specifically, according to Len Woodward at the aHUS Alliance. He said in an email, “If there are 2,500 aHUS patients in the U.S., there could be between 75,000 and 150,000 TMA patients who have survived the encounter.”
I was a theater major, but even I can flag possible issues with their methodology. Calling my disease pregnancy induced-TMA could potentially complicate high-stakes situations like mine when there are multiple kinds of pregnancy TMAs already including HELLP Syndrome, thrombotic thrombocytopenic purpura (TTP), pregnancy-induced hypertension (PIH), preeclampsia (PE), and my disease, which is referred to in this cited article by yet another variation, CM-HUS.
In the end, the NKF working group’s conclusions felt incomplete. Perhaps by choosing a fluid system, they may have fundamentally avoided the goal — which is proposing a new name that works.
Guidance for naming a disease has evolved from simply using the surname of the clinician who pioneered the science behind it. The World Health Organization offered new best practices in 2015 as well to avoid culturally problematic names. Nowadays generic descriptions of symptoms or aspects of the disease are used predominantly, but with a complicated disease like mine, more creativity is demanded.
Other diseases are having name challenges as well. There is a large discussion around the name schizophrenia because of its cultural stigma. In the wake of debate, there are approximately 10 different names proposed for the disease.
To be fair, my disease is complicated. Linda Burke of the aHUS Alliance said in an email, “unlike other diseases, each case of aHUS is unique. (e.g., terms of organs affected, duration of activity: acute vs chronic, trigger(s).”
Right now, on average it takes about a month to diagnose patients. Since there is an extremely effective FDA-approved treatment approved, my goal as an advocate is to close that gap to improve outcomes.
I could get on board with a long, bulky acronym if I was convinced it could lead to a faster treatment and diagnosis. But when multiple names float around, there is a huge risk of confusion and divided awareness.
I can’t google PCNKG-TMA. No one is fundraising around PCNKG-TMA. There is no path to community for PCNKG-TMA. And, at present, no one is project managing awareness and coordinating with insurance companies around PCNKG-TMA.
As someone with this lifelong condition who works in advocacy, the decisions around the name affect me directly.
I asked myself (because the National Kidney Foundation never set up the listening session that patients and advocates requested), “Why were we kept in the dark and denied what’s akin to a 30- to 60-minute Zoom meeting in the entire three years of the project?” Are patient perspectives valued so little?
In a time where the patient voice is being elevated in so many arenas across the industry, it’s clear in some places we are discouraged and unwelcome.
I care deeply because this chronic disease is mine. It lives inside me. It’s radically changed my life and the life of my family. And I don’t want anyone to go through the revolving door of ICU, ventilator, organ failure madness I endured. And I was one of the lucky ones.
The name of this disease is a life and death matter, to put it bluntly. A diagnosis is a direct line to treatment and survival.
Taylor Coffman is a writer, actor, and multi-hyphenate creative. Read more about her story on Rare Disease Girl Substack.