A few months ago I had the privilege of attending a gathering of Amish and Mennonite families (Christian sects of Plain People) in Dundee, Ohio, along with a small group of clinicians and researchers. The families, some of whom had traveled hundreds of miles, all had children with two copies of a mutation in the SNIP1 gene. This causes a syndrome called psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). Babies with PMRED are floppy and are apt to develop intractable, life-threatening seizures. As they grow, if they can walk at all, it is usually with great difficulty. They are nonverbal; some use sign language. Of course, this crude clinical picture is an incomplete one; the kids I met were social, curious, and, the occasional tantrum notwithstanding, overwhelmingly good-natured.
The families came together in part because the clinicians and researchers had asked them to participate in research studies: One study would follow the natural history of the rare disease (we know of 31 patients with two copies of this particular mutation), while another would examine the behavior of the broken SNIP1 gene in cells and try to understand what it was doing and which other genes it was interacting with. The families wasted no time queuing up at the back of the room — all seemed game to participate.
Last summer I visited the “mother ship” — the Clinic for Special Children in Strasburg, Pennsylvania, the first clinic of its kind to cater to Amish and Mennonite children with rare genetic diseases (it was featured in the Winter 2015 issue of Genome). I also attended the 4th Annual Translational Medicine in Plain Populations Conference in northern Indiana. The aggregate effect of these visits was my realization of just how misguided the popular stereotype of Plain People is: the idea that they are a simple, buggy-driving, monolithic, isolated, fearful collection of Luddites trapped in the 19th century. To meet the Plain denizens of Dundee, or Strasburg, or Nappanee, Indiana — all descendants of small communities who fled religious persecution hundreds of years ago — is to know otherwise.
To be sure, some sects are more conservative and separated from the modern world than others. All the families at the Dundee meeting wore traditional dark clothes; the women covered their heads. The local families arrived by buggy; those from far away came by bus or were driven. Some were reticent, but many were as engaged as any group of patients in any other rare-disease community. One Amish dad told me the story of bringing his son with PMRED to a large academic medical center and being informed that the boy would get an EEG. “But what he really needs is an MRI,” he told the doctors. They refused his request; his son is no longer a patient at that hospital and instead goes to the Clinic for Special Children.
“I left Dundee with the abiding impression that, despite their wariness of modernity and their lack of formal education, these Amish and Mennonite parents believe deeply in science and Western medicine — indeed, they are counting on it.”
This points to the second obvious reason why the SNIP1 families were there: to exchange ideas and commiserate about their struggles with issues like clinical care, sleep, feeding, communication, and behavior management. Clearly they were grateful to the assembled clinicians and researchers, but the families also pressed them for what they might be able to look forward to and when.
When I tell friends and family about my visits to these communities, what often gets reflected back at me are the stereotypes — the buggies, the clothing, and the presumed contempt for electricity, for telephones, for “our” way of life. They bring up the 1985 film Witness or a documentary describing how those who dare to leave their Anabaptist churches for the “English” world are shunned. They wonder why “those people” marry their close relatives and thereby perpetuate genetic diseases. In essence, they judge.
There seems to be a lot of that going around these days. Too many of us are inclined to look askance at those who we presume to be radically different from ourselves and to feel free to judge, to fear, to mock, and, at worst, to bully and persecute them.
But the Plain People I met do not judge us. They have chosen a different path, to be sure, but the ones I’ve encountered do not exude contempt for ours. On the contrary: I left Dundee with the abiding impression that, despite their wariness of modernity and their lack of formal education, these Amish and Mennonite parents believe deeply in science and Western medicine — indeed, they are counting on it. So much so that they were prepared to travel for 13 hours on a Greyhound bus and roll up their sleeves to give of their time, tissue, and data — for their children, for their neighbors’ children, and for our children.
“The promises of better primary care, better treatments, better prevention, better health — the promises that we seek to realize and hope to celebrate again and again in these pages — have to be built on a solid scientific foundation.”
The promises of better primary care, better treatments, better prevention, better health — the promises that we seek to realize and hope to celebrate again and again in these pages — have to be built on a solid scientific foundation. That foundation relies on people, Plain and otherwise, participating in research in ever greater numbers — a goal embodied by the National Institutes of Health’s All of Us Research Initiative. And that participation, in turn, relies on trust — a mutual forbearance and a spirit of generosity from both researcher and participant that transcends the many stark differences in our upbringings, our educations, our religions, and our cultures.
It is a spirit born not of contempt, suspicion, fear, or judgment, but rather of curiosity, openness, warmth, and compassion. I would like to think that this spirit is an essential part of what made us welcome Plain People to our shores in the first place.