The disease didn’t have a name in our house. It had descriptions: the way her hands shook or she lost her words midsentence. The way she could be fully present at breakfast then somewhere unreachable by dinner.
And it had a history. My grandmother had died at 29 of what we believed was something similar, my mother had been symptomatic before I was old enough to form the question, my older sister would be told at 26 that she had it, too. What the disease had in our house was a pronoun. “It.” As in, “it got worse over the winter.” As in, “your sister might get it.” As in, “we don’t know much about it.”
That last sentence was repeated so many times, by so many doctors, that it stopped feeling like an update and started feeling like a fact about the world. Some things were known. This wasn’t one of them. We filed it alongside questions that were genuinely unanswerable, not worth revisiting.
We were wrong about that. I just didn’t know it yet.
I grew up as the primary caregiver for my mother from roughly age 8‚ managing the household, bridging the gap between what was happening inside our walls and what we presented to the world outside them. By the time I was old enough to understand what I was doing, I had already been doing it for years, not because anyone assigned it to me explicitly but because someone had to and I was there and I was capable, and it turned out that capability was its own kind of assignment.
The disease organized my childhood the way weather organizes a farming life. You don’t fight it, you work around it, you learn its seasons. And somewhere in the years of working around it, you stop asking what it is and start managing what it does.
Three generations of women in my family — my grandmother, my mother, my sister — carried the same condition through the same blood before any of us had a clinical word for it. Fifty years of documented family history. Fifty years of doctors who shrugged with genuine sympathy and said, rare. Poorly understood. Difficult to characterize.
I believed them for a long time.
Here is something worth knowing about the category called rare disease. Rare does not mean unknown. It usually means underresearched, underfunded, and underconnected to the people living inside it. There are approximately 7,000 to 10,000 identified rare diseases, depending on what definition you use. Many of them have names, and many have researchers who have dedicated careers to a single mutation, a single protein, a single entry point into the vast underlit territory of conditions that affect small numbers of people and therefore attract small amounts of attention and money.
The work on these diseases gets done‚ slowly, in small labs, by scientists who chose a difficult corner of medicine because something drew them there. The work gets published. The knowledge accumulates.
And then, in too many cases, it stays there. There is no architecture reliably connecting what medicine knows about a rare condition to the families living inside it. Research participants from earlier decades have no right to follow-up notification. Families whose cases contributed to literature that eventually named their disease may never know the paper was written.
The loop, opened when the family first came to medical attention, can stay open indefinitely on their end. On the other end, in a database they don’t know to search, the loop may have closed years ago. This is not malice, it’s infrastructure, but the cost is real regardless.
The cost is my mother going through nearly 40 years of illness without being told that someone had looked at what she had and given it a name. The cost is my sister and her 15 years of deterioration and her death at 41, in a world where a researcher somewhere had been asking the same questions we asked in our living room, except the researcher was getting answers and we were not getting calls.
I am a research methodologist. For 23 years I have worked at an academic medical center building systematic reviews‚ assembling bodies of medical literature to answer clinical questions, following citation chains, evaluating sources, asking the next question without assuming the answer. I had the skills and the access and I had stopped looking, and that is the sentence I keep coming back to. I had stopped asking the question that mattered most to me personally‚ not because I forgot, not because I stopped caring, but because somewhere in the decades of shrugged answers, I had accepted the not-knowing as the settled state. The doctors had said rare, poorly understood, difficult to characterize for so long that I had internalized their uncertainty as my own. A research methodologist’s skill set and a grieving daughter’s resignation, and the resignation had won.
There is a specific exhaustion that comes from caring for people with unnamed conditions across many years. You ask the questions when they feel fresh. You push when pushing feels possible. And then the decades accumulate and the people you were asking on behalf of are gone, and you are left with your own life to build from whatever remains, and the unanswered questions stop feeling like questions and start feeling like the way of things.
I’ve written a memoir about all of this called “Naming It.” After finishing the memoir, I sat down with the oldest document I had, my grandmother’s death certificate, which my aunt mailed me 20 years ago. I looked at it many times without understanding it, because I had not yet learned how to read it. Going through it to check a fact I stopped on cause of death: acute coronary thrombosis. A catch all. It was not an answer. It was a placeholder. It still is. In 1954, though, differential diagnosis capabilities were limited and no one looked further.
Using Claude I typed in everything I knew about what came after my grandmother’s death and my family’s history, along with the research from the ’80s and ’90s. Within seconds it answered what decades of shrugs had not. The research had worked, comparisons were made, and “it” had a name: FENIB, an ultra-rare genetic neurodegenerative disorder with progressive dementia and seizures, found in less than 1 in 1 million people. It had been named and studied for years. My family was in the literature. We had seen doctors for years. Still, no one told us.
Learning the name did not only answer a question. It reorganized everything behind it, the way a random set of details rearranges the moment you learn the one thing connecting them. I spent my life managing what the disease did. Now I understood what it was.
My grandmother handed my mother an inheritance that nobody named. My mother did the same. I can hand my children an inheritance with a name.
So I told them. Not in front of a fireplace the way I had pictured it growing up, when I was telling children who did not yet exist how I survived. This time it was at our favorite restaurant on an ordinary Wednesday. I told them everything I discovered over the previous 72 hours. The death certificate, the research, the name: FENIB.
For decades the disease in our family had only a pronoun. My children are the first generation to grow up with its name.
Miranda Pappas is a research methodologist with more than two decades of experience evaluating clinical and scientific evidence. She holds a master’s degree in counseling psychology and is the author of the forthcoming memoir “Naming It.”