By SUZANNE CASSIDY | Staff WriterIn 2012, when Dr. Katie B. Williams was a pediatric resident, a physician from Lancaster County came to her medical school to tell of the pioneering work he’d done in researching and treating genetic disorders among the Plain communities.
Williams was enthralled as Dr. D. Holmes Morton, founder of the Clinic for Special Children in Strasburg, detailed his research on disorders such as maple syrup urine disease and glutaric aciduria type 1, or GA1, formerly known as “Amish cerebral palsy.”
A student at the University of Wisconsin School of Medicine and Public Health, Williams was impressed by the spectrum of disorders Morton’s clinic was able to treat.
And she was moved by the number of Amish and Mennonite people who came to listen to Morton speak. To hear the hope he was offering their families, Williams recalled, was “powerful.”
The Clinic for Special Children — a small but mighty medical facility set amid Amish farmland — is marking its 25th year. And Williams now is on its medical staff.
She arrived in November, becoming the clinic’s first female pediatrician, though not its first female medical provider. The clinic has two female nurses and a nurse-practitioner, Donna Robinson, who has been there for nearly two decades.
“We’re so thankful she came into Pennsylvania,” said Lorraine Martin, one patient’s mother, of Dr. Williams. “We prayed for her for a long time.”
The clinic had been seeking another doctor for about two years, said development director Matthew Sware.
Lancaster General Health provided its physician recruitment team for the search. The right candidate had to be willing to embrace the clinician-scientist model that Dr. Morton had established at the clinic.
That is, he or she had to be willing to treat patients — and join the on-call rotation while also doing research into genetic disorders.
Cutting edge
The Clinic for Special Children has gained an international reputation for its cutting-edge research into inherited disease. Last week, a researcher flew in from Japan to attend a meeting there. (The focus of the meeting: the latest findings on a genetic condition that causes blindness, epilepsy and other symptoms in affected infants.)
“It’s ironic that here in the middle of a Lancaster County cornfield, the clinic has developed a powerful model for genomic medicine that is helping to shape the future of medical care -— not just for Amish and Mennonite families but for all families,” Sware noted.
Since its founding in 1989 by Dr. Morton and his wife, Caroline, the clinic has identified 147 genetic disorders. It identifies between five to 10 new disorders each year, Sware said.
The clinic tracks more than 2,300 children and young adults, and actively treats about 1,000 patients. It sees an average of about 200 new patients each year.
Dr. Kevin A. Strauss, the clinic’s medical director, is in his mid-40s. Dr. Morton is now in his 60s.
If their work is to go on, Strauss said, they need to train someone who can train the next generation of clinician-scientists.
“Hiring Katie is emblematic of the fact that this community wants this institution to be here long-term, for their children and their grandchildren,” Strauss said.
Most of the clinic’s patients are Amish and Mennonite; their families pay out of pocket for health care, sometimes with the help of their churches.
Built by Amish and Mennonite volunteers on land donated by an Amish grandfather of two girls with GA1, the clinic is bright and homey. Sware recalled one father who walked in, placed his hands on the building’s pine beams, held in place by oak pegs, and said, “’I was here when this place was raised. I never thought I’d have to use it.’”
Plain families, Sware said, have come to rely on the clinic to meet the unique medical needs of their children.
The clinic’s operating budget this year is $2.4 million. It relies on support from the Plain community, but “more and more’’ on private donations, Sware said.
Molecular and biochemical testing is conducted right at the clinic, so blood samples can be analyzed, and diagnoses made, quickly and inexpensively. A molecular geneticist, Dr. Erik Puffenberger, works in a state-of-the-art laboratory in the clinic’s basement.
For Katie Williams, who grew up on a dairy farm in Wisconsin, the opportunity to work at such a place was “an ideal opportunity.”
She majored in animal science as an undergraduate, thinking she would specialize in animal nutrition. “I had this idea of working one on one with dairy farmers — sitting at their kitchen tables, helping them with their businesses.”
When she realized that modern animal nutrition didn’t work in that individualized way, she turned to medicine. She was particularly interested in endocrinology and metabolic disorders.
At the Clinic for Special Children, that interest will serve her well: One of her research projects will require her to follow about two dozen children with GA1 who have been treated under the protocols developed by the clinic.
Severe neurological damage used to be common for children with GA1, an inherited metabolic disorder in which the body lacks an enzyme necessary for breaking down certain amino acids found in dietary proteins.
Early diagnosis is imperative, to protect children’s brains during their critical developmental period. Children with GA1 now are fed with a special medical formula developed by the Clinic for Special Children.
Since 2006, Sware said, none of the clinic’s patients with GA1 have had any brain injury. But, he said, “We don’t actually know what will happen with these children when they’re older.”
Williams will be looking at just what happens.
A warm welcome
“I really wanted to work directly with people,” Williams said. “I don’t think I would be content being strictly in research. … But I really didn’t think I’d be able to do both.”
She’s been warmly embraced by colleagues and patients’ families alike.
Lorraine Martin and her husband, Mark, who is on the clinic’s board of directors, held a hayride at their Lititz farm in November to welcome Dr. Williams, her husband Matt, and their two little boys to Lancaster County.
“It meant a lot to our family to have some place to go that first weekend,” Williams said.
For the Martin family, it meant a great deal, too.
Crystal Martin, who’s 16, has maple syrup urine disease (so named because the disorder causes the urine to smell like maple syrup).
The Clinic for Special Children diagnosed Crystal within 24 hours of her birth, and placed her on a medical formula that very day.
According to a paper co-authored by Strauss and Puffenberger, 36 Mennonite children were born with MSUD in Lancaster County between 1966 and 1988; all developed serious brain issues as newborns, and a third of them died. Most of the survivors were severely disabled.
Today, a child who has MSUD and is treated by the clinic can expect to reach normal developmental milestones. Hospitalization rates also have been dramatically reduced.
Still, coping with MSUD can be a struggle. Like GA1, MSUD is an inherited metabolic disorder that impairs the body’s ability to break down certain amino acids. (Amino acid levels have to be monitored frequently in children with MSUD.)
Both of Crystal’s parents, who are Old Order Mennonites, are carriers of MSUD.
Crystal’s intake of eggs, cheese, meats and even bread had to be restricted. She got her nourishment first from a commercially made medical formula, then from a special formula developed by the clinic.
Flu season was nerve-wracking for the Martin family; any infections can lead to irreparable neurological damage in people with MSUD.
But in 2012, Crystal underwent a liver transplant at the University of Pittsburgh Medical Center. She was the 50th of the clinic’s patients with MSUD to undergo a transplant there.
The transplant, her father said, was “a blessing.”
Crystal now can eat whatever she wants, including the apple dumplings her mother made for the November hayride. Before the transplant, her mother would have to give her apples, without the baked dough, and topped with a bit of frozen Cool Whip instead of ice cream.
The long search for another pediatrician to join the clinic staff had the Martins worried. The prospect of being without enough doctors at the clinic was “a little scary,” Lorraine Martin said.
A new way
Crystal Martin described Dr. Williams as an “awesome person.”
Williams already has “established a very good rapport with patients,” Dr. Strauss said. “She has an intuitive understanding of how to (work) with the Amish and Mennonite communities, and an inquisitiveness and conscientiousness that ensures she’ll do well.”
At the Clinic for Special Children, patients routinely are booked for an hour for check-ups. This will stretch to two hours, or even longer, when new patients are seen.
It’s a model of care that larger medical facilities can’t generally offer.
“We have time,” Strauss said. “We’ve built this commodity of time. To really understand your patients’ problems, you can’t do it in five minutes.”
Because illness prevention is so crucial for children with metabolic disorders _ for whom an ordinary infection can prove catastrophic — Williams said she spends a lot of time talking to parents about what they can do, and avoid doing, to keep their kids healthy.
“Most of the disorders that are treated here are so rare,” she said.
So even when she’s treating a symptom she’s seen countless times before, there’s “a portion of it that’s really uncharted territory for me.”
Coming from a large teaching hospital, she’s also accustomed to seeing sick kids hospitalized.
At the clinic, “the threshold for sending kids to the hospital is high,” she said, noting that the parents of kids with MSUD, for instance, are accustomed to caring for their children.
“They could teach all of us about MSUD because they’ve been dealing with it day in and day out,” she said.
At the Clinic for Special Children, Williams said, she has found everything she wanted, but didn’t expect to find, in a single workplace. And, she noted, it’s a “place with a really good purpose and a good heart.”
