The disease had no name among us. There were descriptions: the way her hands shook or she lost her words mid-sentence. The way she could be fully present at breakfast and then in an inaccessible place at dinner.
And there was a story. My grandmother had died at 29 from what we thought was something similar, my mother had shown symptoms before I was old enough to ask, my older sister was told at 26 that she suffered from it too. What illness had for us was a pronoun. “He.” As in “the situation got worse during the winter.” As in “your sister might understand.” 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. It wasn’t one of them. We filed it away with questions that were truly unanswered and not worth revisiting.
We were wrong about that. I just didn’t know it yet.
I grew up as my mother’s primary caregiver from around the age of 8‚ running the household, bridging the gap between what happened inside our walls and what we presented to the outside world. By the time I was old enough to understand what I was doing, I had already been doing it for years, not because someone explicitly assigned it to me, but because someone had to do it and I was there and I was capable, and it turned out that that ability was its own kind of mission.
Illness organized my childhood in the same way that the weather organizes an agricultural life. You don’t fight it, you work around it, you learn its seasons. And somewhere, over the years of working around this problem, you stop wondering what it is and start dealing with what it does.
Three generations of women in my family – my grandmother, my mother, my sister – carried the same disease through the same blood before any of us had a clinical word to describe it. Fifty years of documented family history. Fifty years of doctors who shrugged their shoulders with genuine sympathy and said: rare. Misunderstood. Difficult to characterize.
I believed them for a long time.
Here’s something to know about the category called rare disease. Rare does not mean unknown. This usually means a lack of research, underfunding, and a lack of connection with the people who live there. There are approximately 7,000 to 10,000 identified rare diseases, depending on the definition you use. Many of them have names, and many have researchers who have devoted their careers to a single mutation, a single protein, a single entry point into the vast, under-lit territory of conditions that affect small numbers of people and therefore attract little attention and money.
Work on these diseases is being done slowly, in small laboratories, by scientists who have chosen a difficult area of medicine because something attracted them to it. The work is published. Knowledge accumulates.
And then, in too many cases, it stays there. There is no architecture that reliably connects what medicine knows about a rare disease to the families who live there. Research participants from previous decades are not entitled to follow-up notification. Families whose cases contributed to the literature that ultimately named their illness may never know the article was written.
The loop, opened when the family first consulted a doctor, can remain open indefinitely on its side. On the other hand, in a database they don’t know how to search, the loop may have been closed for years. It’s not malice, it’s an infrastructure issue, but the cost is real regardless.
The price was that my mother went through almost 40 years of illness without being told that anyone had looked at what she had and given it a name. The price to pay was my sister and her 15 years of deterioration and her death at age 41, in a world where a researcher somewhere was asking the same questions we were asking in our living room, except the researcher was getting answers and we weren’t getting calls.
I am a research methodologist. For 23 years, I worked at an academic medical center developing 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 stopped looking, and that’s the phrase I keep coming back to. I had stopped asking the question that mattered most to me personally‚ not because I had forgotten, not because I had stopped caring, but because somewhere over the decades of shrugged answers I had accepted not knowing as an established state. The doctors said rare, misunderstood, difficult to characterize for so long that I had internalized their uncertainty as my own. The skills of a research methodologist and the resignation of a grieving daughter, and the resignation had won.
There is a specific exhaustion that comes from caring for people with unnamed illnesses for many years. You ask the questions when they seem fresh to you. You push when it seems possible. And then the decades pile up and the people you were asking for are gone, and you’re left with your own life to build from what’s left, and the unanswered questions stop feeling like questions and start feeling like the way things are.
I wrote a memoir about all of this called “Naming It.” After finishing my memoir, I sat down with the oldest document I had, my grandmother’s death certificate, which my aunt mailed to me 20 years ago. I watched it several times without understanding it, because I hadn’t yet learned to read it. While reading through it to verify a fact, I stopped at the cause of death: acute coronary thrombosis. A catch-all. It wasn’t an answer. It was a placeholder. This is still the case. By 1954, however, differential diagnosis capabilities were limited and no one looked further.
Using Claude, I grasped everything I knew about what happened after my grandmother’s death and my family’s history, as well as research from the ’80s and ’90s. In seconds, he answered what decades of shrugging had failed to address. The research worked, comparisons were made, and “it” had a name: FENIB, an ultra-rare genetic neurodegenerative disease accompanied by progressive dementia and seizures, present in fewer than one in a million people. It had been named and studied for years. My family was into literature. We had been seeing doctors for years. Yet no one told us.
Learning the name didn’t just answer a question. He rearranged everything behind him, the same way a random set of details rearranges themselves the moment you learn the one thing that connects them. I have spent my life dealing with the consequences of illness. Now I understood what it was.
My grandmother left my mother an inheritance that no one has named. My mother did the same thing. I can pass on to my children a legacy with a name.
So I told them. Not in front of a fireplace like I had imagined growing up, when I told children who didn’t yet exist how I survived. This time it was at our favorite restaurant on a regular Wednesday. I told them everything I had discovered over the previous 72 hours. The death certificate, the research, the name: FENIB.
For decades, illness in our family had only one pronoun. My children are the first generation to grow up with his 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 upcoming memoir “name it.”
Gn Health
