A medical anthropologist and a biochem major team up to gauge what the Amish understand about genetic disease.
By Alice Roche Cody
With tape measure in hand, Heather Tynan ’13 stepped into the cozy Amish kitchen. She chatted with the family she’d met on previous visits to central Ohio—the father was considering a switch to organic farming while he and his wife eagerly awaited the birth of their grandchild. As the smell of baking bread filled the air, Tynan wound her tape measure around the parents’ heads, then each of their children’s. Next, she tracked arm spans and height.
By collecting measurements from Amish families, Tynan hopes to shed light on Brittle Hair Syndrome (BHS), a genetic condition in the Amish that is characterized by sparse, brittle hair, a short stature, decreased fertility and psychosocial impairments.
“I’m looking at the relationship between genotype and phenotype—observable characteristics—to see who is a carrier and who has symptoms,” she says. “We’re hoping to help the Amish community by finding out more about BHS, which could help with clinical diagnosis.”
Tynan gained entrée into Amish country in Holmes County, Ohio, at the behest of Joslyn Cassady, associate professor of anthropology at Drew, who asked Tynan to assist with field interviews of families Cassady started studying in 2011. Because the Amish practice endogenous marriage—the custom of marriage within a group—they are prone to more than 50 rare and life-threatening genetic disorders, including hemophilia, cardiomyopathy, cystic fibrosis, polycystic kidney disease and metabolic errors.
Over coffee and cobbler, the pair interviewed the Amish to establish what they know about genetic disease and lay the groundwork for an educational outreach program. During five trips, four with Tynan’s assistance, Cassady interviewed more than 50 Amish people between the ages of 30 and 86.
“I interviewed families who lost children due to genetic conditions and saw pictures of their babies who died, as they recounted their pain and loss,” says Cassady. In some cases, Amish blamed vaccines, “too close marriage,” nutritional deficiencies and sinful behavior. One man related that when he was young, he witnessed a neighbor boy tease a child with dwarfism. Later, as a grown man, the witness himself believed that he had two children who were dwarves because his unkind actions had displeased God. Others were grateful for genetic tests to learn what plagued their babies, and some viewed testing as acceptable if it helped with treatment.
Cassady began her research at the request of Harold Cross, a professor at the University of Arizona, who began studying hereditary disorders in Holmes County during the 1960s. Cross co-founded the project called Windows of Hope in 2000, in order to detect and treat inherited health problems in the Amish. In collaboration with local Amish, the Windows of Hope Genetics Information Center (WHGIC) was established in Walnut Creek, Ohio, to offer education and resources to the Anabaptist community. He enlisted Cassady’s help after learning of her work with an Amish group in Tennessee.
Next, Cassady will submit a report to WHGIC based on her data, with recommendations for building a long-term outreach program that will include training for parochial and public school teachers in genetics.
For teachers and parents, education is crucial. The sooner a child with a genetic disease is diagnosed, the better; early interventions, such as speech therapy and special education classes, can address developmental and social challenges and significantly change outcomes, says Cassady. “A number of conditions have obvious symptoms, like BHS or a deformity, but the Amish may not understand that these disorders might also affect a child’s temperament or ability to learn, interact and play.”
“This project combines Heather Tynan’s interest in molecular biology and genetics with Professor Cassady’s work on the social behavior of the Amish,” says Associate Professor of Biology Roger Knowles. This interdisciplinarity secured funding for both projects from Drew’s Howard Hughes Medical Institute grant, administered by Knowles and the biology department.
—Drew Magazine, Summer 2013