Our Disjoined Study of Disease and Identity
Today I read the author’s note preceding The Man Who Mistook His Wife for a Hat. I had read it before, last in 2016, and the same copy (on permanent loan from the Harlem branch of the New York Public Library) lived in the pocket of an old jacket I grabbed on my way out. I stood in the rain a few feet from our door with the dog pulling me into the woods, when Oliver Sacks punched me in the stomach. I was struck by more than his beautiful human narrative. It hit me like a ton of bricks. Reading this prophetic note from a remarkable person and pioneer of neurology, I realized our rare disease community did not listen.
Rare Disease Patient Advocacy Groups devote valuable time hyper-focused on Natural History Studies; hours and days too often limited by progressive neurological conditions affecting our loved ones. Research-focused advocacy organizations (including ours) plod through Natural History Study preparation and participation. We have to pivot. Unless longitudinal data (collected in the span of under 5 years) will serve as control, and replace placebo arms of early-phase clinical trials, the epic resources that patients and families spend on Natural History Studies will not bring treatment to this generation of patients.
Oliver Sacks reminded me of the critical role we, as family and patients, play in characterizing disease; a role that transcends collection of medical records and data sharing. The rare disease community is obsessed with Natural History Studies: how to start one, who to lead one, where to store data (captured on antiquated and inappropriate scales), where to send the check, etc. Visit any rare disease forum and the topic of Natural History Study is rampant and redundant. And I am just as guilty as the next rare disease parent or patient advocate. In fact, I have given presentations on the importance of prioritizing Natural History Studies. I was wrong.
Precision outcomes will happen faster if we focus on chronicling disease severity and progression through honest, gritty, and detailed descriptions of life and death with a rare disease. We do not have time to collect a decade of longitudinal data before treatment and cures come. Through unfiltered stories filled with raw and human perspective, we can illustrate what a meaningful therapeutic change looks like. That is our experiential skillset. That is what Dr. Sacks told me today in the driveway. Perhaps it is more efficient to share our stories in great detail than it is to answer a de-identified multiple choice survey sanitized by institutional review boards.
In 1985 Oliver Sacks told us what he thought about Natural History Studies: “They convey nothing of the person, and the experience of the person, as he faces, and struggles to survive, his disease.”
What would Oliver Sacks and Hippocrates say about today’s notion that families who drive research must prioritize Natural History Studies? Do these studies make an impact in solving extremely heterogeneous genetic diseases like ours; diseases that vary exponentially in phenotype and outcome? Is this good use of our precious, fleeting time? I wish I could ask him. Dr. Sacks died before our daughter was diagnosed, before she became the first patient enrolled in the KIF1A Natural History Study, and before our foundation started.
Perhaps novel therapeutic strategies, appropriate outcome measures and endpoints are where our resources should be spent. These are tools that will drive this generation of patients closer to the clinic. Perhaps these contributions alone will facilitate rapid development of rare disease treatments. Perhaps caregivers and advocates can spend less time worrying about Natural History Studies and more time with our loved ones — and telling their stories.
The question remains: should patient-led foundations prioritize vigorous collection of natural history data? I’m not sure. But this morning Oliver Sacks punched me in the stomach and forced me to ask that very question.
More below from Dr. Sacks, and an excerpt from his author’s note in The Man Who Mistook His Wife for a Hat:
“Hippocrates introduced the historical conception of disease, the idea that diseases have a course, from their first intimations to their climax or crisis, and thence to their happy or fatal resolution. Hippocrates thus introduced the case history, a description, or depiction, of the natural history of disease-precisely expressed by the old word ‘pathology.’ Such histories are a form of natural history-but they tell us nothing about the individual and his history; they convey nothing of the person, and the experience of the person, as he faces, and struggles to survive, his disease. There is no ‘subject’ in a narrow case history; modern case histories allude to the subject in a cursory phrase (‘a trisomic albino female of 21’), which could as well apply to a rat as a human being.
To restore the human subject at the centre-the suffering, afflicted, fighting, human subject-we must deepen a case history to a narrative or tale; only then do we have a ‘who’ as well as a ‘what’, a real person, a patient, in relation to disease-in relation to the physical.
The patient’s essential being is very relevant in the higher reaches of neurology, and in psychology; for here the patient’s personhood is essentially involved, and the study of disease and of identity cannot be disjoined.”
