By Joshua S. Wesalo, F&M Class of 2013, Research Fellow, Clinic for Special Children
I am pleased to introduce our second guest writer here on the F&M Health Professions Advising blog. The comments below come from Josh Wesalo ‘13, a current research fellow at the Clinic for Special Children in Strasburg and an applicant to MD/PhD programs. Josh was a Biochemistry and Economics double major, and was involved at F&M as an HA in Bonchek, a runner on our track and cross-country teams, an avid researcher, and much more. Feel free to start a dialogue by commenting below (please note: it takes while for comments to appear). – Glenn N. Cummings, PhD, Director of Health Professions Advising
"Stunning scientific and technological advances in genetics will mean little if they do not benefit people." A. Guttmacher et al. Am. J. Med. Genet. 2001, 106, 216–222.
We walked into the examination room. Although we thought we were only seeing Maria, her grandmother was in there accosting Maria’s roving three-year-old daughter in Spanish. Dr. Wallace had fifteen minutes to take a skin biopsy, walk through the expectations for Maria’s upcoming delivery, and clear everything with the attending physician. Maria had missed her last three appointments and had no idea how she’d be able to get to the suburban LGH campus to get her Rhesus factor injection so that her baby—due any day now—wouldn’t die from hemolytic shock upon birth. Meanwhile, Maria’s grandmother was brandishing her foot at Dr. Wallace and gesticulating to a rather sinister-looking boil on her big toe.*
Three floors below the family health clinic, Dr. Strauss was checking up on an Amish toddler in the Peds ward who had no eyes. The child was recuperating from a metabolic crisis. After an hour of genial conversation and careful inquiry with the soft-spoken parents, Dr. Strauss left with a neatly handwritten family tree in hand, and drove out to the Clinic for Special Children in rustic Strasburg, PA to figure out the roots of this devastating illness.
Both the residents at LGH’s Family Health Clinic and the pediatricians at the Clinic for Special Children contend with underserved patient populations. The former spread themselves thin caring for uninsured and Medicaid patients, many of whom speak little English. The latter serves Plain people—the Amish and Mennonite communities.
The population of 97,000 Amish and Mennonite individuals in Lancaster County has grown from a group of several dozen people who fled violent persecution in Europe centuries ago (the Mennonites set sail in 1525, the Amish in 1693) (1). While this makes it easy to guess their surnames (you can bet on “Yoder,” “Esh,” or “Stoltzfus”), the resulting lack of genetic diversity—the “founder effect”—has burdened them with high probabilities of inheriting unusual genetic diseases. Yet Plain people are ill equipped to shoulder this burden. When they go to the hospital, they must navigate the unfamiliar and high-tech world of modern medicine, quickly racking up bills of $50,000-100,000 after several days in the Pediatric Intensive Care unit. Ninety-five percent of them don’t have insurance to help pay the bills.
Seeking to address the gaping holes in healthcare for Plain people, Dr. D. Holmes Morton started the Clinic for Special Children in 1989 (Dr. Holmes is pictured above on far right, with Dr. Erik Puffenberger on left and Dr. Kevin Strauss in the middle). During a fellowship at Children’s Hospital of Philadelphia, Dr. Morton encountered a patient with a genetic disorder called glutaric aciduria. Children with glutaric aciduria are healthy at birth, but they suffer from a debilitating brain injury when they are between six and eighteen months old. This burdens them with a severe movement disorder for the rest of their lives (which typically end during childhood). When no one would fund Dr. Morton’s proposed research on glutaric aciduria, he took matters into his own hands. He took out a second mortgage on his house so he could start the Clinic with his wife Caroline. Shortly thereafter, an article in the Wall Street Journal describing Dr. Morton’s aspirations prompted readers to send in hundreds of thousands of dollars in donations within the week (2). Jake Stoltzfoos, an Amish farmer whose grandchildren Dr. Morton treated, donated a plot of land. There, Amish and Mennonite individuals came together to build the Clinic, constructing it of sturdy timber beams in a single day in the barn-raising tradition (3).
The Clinic has since grown substantially, in size, in scope, and in effectiveness. Now with an additional wing, it employs three physicians and a molecular geneticist, along with a modest support staff. The physicians see well over two thousand patients, many of whom cross state or international borders to make their appointments. Using its own basement laboratory, the Clinic can test for DNA mutations responsible for over a hundred different disorders at a fraction of the cost patients would face using a commercial lab. For targeted mutation analysis, commercial labs take a fortnight and charge $590 on average; the Clinic takes a day or two and charges $50. Since the Clinic’s patients face lower prices, enjoy better health, and require much fewer hospitalizations, the Clinic saves the community $20–25 million per year on a $1.5 million operating budget (4).
The Clinic for Special Children’s model makes it possible both to provide excellent care and to publish cutting-edge science. Unlike most academic medical centers, the Clinic built its patient rooms across the hall from the lab. Consequently, Clinic doctors can order state-of-the-art genetic testing and biochemical analysis for patients more easily than most physicians can order a cholesterol test. This testing elucidates the genetic origins of around ten diseases every year. Unlike other scientists, however, the facility maintains close ties with the community. Patients and families trust and support the clinic, donating the quilts and handicrafts that bring in a third of the budget at five annual benefit auctions.
The Clinic humbles all who set foot inside. Students shadowing there fall speechless at the sight of tragic diseases, but take away a bit of scientific understanding and an appreciation for patient, dedicated doctoring. Medical practitioners from all over the country come away in awe of the Clinic’s simple, cheap solutions to complex problems. Visiting scientists are overjoyed to shake hands with the patients and families that imbue their daily work with meaning. Those of us who work there feel humble before the families we meet, who care lovingly for their special children each day. Dr. Morton recalls the words of an Amish grandfather upon his grandson’s death to explain this best: “We will be glad if you can help these children, but such children will always be with us. They are God’s gifts. They are important to all of us. Special children teach a family to love. They teach a family how to help others and how to accept the help of others" (5).
If we, as aspiring healthcare practitioners, can humble ourselves and learn from these children, perhaps we too will someday provide solace and world-class care to the patients and families we come to know while pushing the frontiers of medicine.
- Joshua S. Wesalo, F&M Class of 2013
*Names and identifying details are here fictionalized to respect the privacy of the patients.
1 Kraybill, D. “Demographics of North American Anabaptists.” Genomic Medicine and the Plain Populations of North America, Lancaster, PA, July 17–18, 2013; Clinic for Special Children.
2 Allen, F. “How a Physician Solved Riddle of Rare Disease in Children of Amish.” Wall Street Journal, Sept 20, 1989, A1.
3 Gura, T. Nature, 2012, 243, 20–22.
4 Strauss, K. A.; Puffenberger, E. G.; Morton, D. H. Am. J. Public Health, 2012.
5 Morton, D. H. Pediatrics, 1994, 94, 785–791.