BELLEVILLE, Pa. - Keith Weaver, 13, inherited his ancestors' bright blue eyes, light brown hair, and a metabolic disorder diagnosed at birth that everyone thought probably wouldn't cause him much trouble.
People with propionic acidemia lack an enzyme needed to fully digest protein, potentially leading to serious health issues and even death. After the condition was found in a routine screening for newborns, Keith's doctors in Ohio prescribed a special, low-protein diet and routine monitoring.
"It was a disorder we thought was pretty benign, pretty easy to treat," said D. Holmes Morton, a pediatrician and researcher known around the world for his work with the Amish and Mennonite communities. These groups' insular ways make them especially vulnerable to this and other inherited disorders.
But when Keith was 5, doctors found that his heart wasn't pumping enough blood. So his Mennonite parents, who live in Greenfield, Ohio, hired a driver to take the family nine hours east to seek help from Morton, who was treating Keith's extended family in Pennsylvania.
Keith's cousin, Leroy Martin, suffers from the same condition. As a 14-year-old in 2009, he landed in the hospital with heart failure.
"He was almost dying," Morton said, explaining that Leroy's case proved a turning point in his thinking about the condition.
Morton, 65, is thoughtful and serious, with an easy smile. Calm and kind with his patients, Morton makes his intellect apparent when science enters the conversation.
He was a 2006 recipient of a MacArthur "genius award," and once was named a "medical hero" by Time magazine. He received his medical degree from Harvard, and did a pediatric residency at Boston Children's Hospital and a three-year research fellowship in biomedical genetics at Children's Hospital of Philadelphia and the Kennedy-Krieger Institute, a Johns Hopkins affiliate that specializes in developmental disorders.
In 1988, while he was in Philadelphia, he saw an Amish boy with what the medical community regarded as a rare genetic disease. It turned out not to be so rare among the Amish.
The following year, Morton and his wife, Caroline, decided to open a clinic in Lancaster County to diagnose and treat Amish and Mennonite children with inherited disorders. He has discovered about 180 disorders in these groups. He is perhaps best-known for glutaric acidemia type 1, the condition he came across in Philadelphia, and a genetic variant of maple syrup urine disease that is specific to these groups. Both disorders are metabolic; both prevent the body from processing certain proteins; and both, if untreated, have severe consequences.
Morton has consulted with and visited clinics all over the country, and recently opened the Central Pennsylvania Clinic in Belleville, near the geographic center of Pennsylvania. His temporary location is surrounded by open fields, grain silos, and low, rolling hills. He says he came here to Mifflin County to be closer to more Plain people of all ages than he could reach at the Clinic for Special Children, which continues serving Lancaster County.
"The adults need care, too," Morton said. "That is really the purpose of this [new] clinic - is to provide care to the adults, not just the children."
Many were never tested
There are many inherited disorders in the Plain community, but propionic acidemia - and those who suffer from it - particularly merit attention, he said. Many were never tested as newborns.
Not only is the condition not benign, as he and others believed until Leroy Martin's case in 2009, it is more widespread than once thought. Though the effects vary by individual, it potentially can lead to learning disabilities and sometimes fatal physical complications such as strokes and seizures.
"There are a lot of undiagnosed adults," said Morton. "It is one of the most common disorders in the Mennonite populations and Amish populations throughout the United States."
This disorder is "a biochemical abnormality," Morton said. It interferes with chemical reactions in the body that are necessary to properly break down amino acids and provide energy. The result is a toxic buildup of acids that affect the brain, heart, and skeletal muscle function. Like diabetes, another metabolic disorder, the consequences can be systemic and severe if untreated.
Ten of his 60 patients diagnosed with the disorder have died, Morton said.
His first case
Morton saw his first case of propionic acidemia in 1997. She was a year old and arrived at a hospital intensive-care unit with severe heart failure. The lay midwife who delivered her never sent her blood in for screening. Undiagnosed and untreated, the child suffered a stroke and died at 18 months.
Since then, Morton has diagnosed or studied 69 people with the disorder. Many were screened at birth; some were screened later because their families were known to be high-risk; others were diagnosed at various ages after coming to his clinic in Lancaster or rushing to the hospital because of seizures, severe heart problems, or strokes. Some had no prior symptoms.
Though much of the focus has been on the disease's effect on the heart, "the truth is the brain is more vulnerable and more affected," Morton said. "And the most common sign [in the brain] is seizure. Children who are untreated have poor cognitive function. Some kids will get severely ill and have strokes and are wheelchair bound. So, it can be a very bad disorder."
Recognizing that his patients needed more than just a low-protein diet, Morton started developing modified versions of available supplements that support whole body function by supplying necessary amino acids, vitamins, and organic acids.
Keith Weaver, the Mennonite child from Ohio, drinks the metabolic supplement three times a day (the taste is "not too bad," he says) and his heart and brain function are now normal.
"We feel so blessed," said his mother, Kathy.
Morton said that no one has died of the disorder since he began giving his patients his special supplements in 2009. "We have reversed heart failure," he said. "None of them have had seizures. They're all going to school with their brothers and sisters."
Leroy Martin, Keith's cousin, is stable, as well.
Morton began seeing patients at their homes near Belleville once a month starting in 2012, while he was still at the Clinic for Special Children in Strasburg; he now is in Belleville at least three days a week.
Morton and his team, who opened the Belleville clinic in 2015, are trying to raise at least $5 million to build a new facility on six acres donated by local residents.
He still lives in Lancaster County a couple of hours away and sees patients there, but can no longer work at the clinic he founded, or directly access records of his patients there.
Morton attributes part of the tension to his decision to put some of his $500,000 award as a MacArthur Fellow toward the Belleville clinic.
Herman Bontrager, board chairman at the Clinic for Special Children, says the Lancaster clinic continues to support Morton's efforts to help Plain people in Belleville. Keeping the operations separate, Bontrager said, "is necessary for legal reasons for patients, and clarity for funding."
While Morton waits for what he hopes will be a more collaborative relationship, he sees his Lancaster patients at an office operated by Columbia University nearby. Morton attracts numerous collaborators to Belleville and Lancaster.
He plans to equip the new clinic with "the kind of technology we need to do monitoring" on patients like Keith Weaver, who, thanks to early intervention and careful management, has a bright prognosis.