There are no parents in the world who want to see their child sick. Often the illness is no big deal—you follow the doctor’s orders, and your kid gets better soon. But what do you do when your child is really sick, and it’s because of decisions the founders of your religion made more than 300 years ago? And what do you do when the medical solutions seem to run counter to that very same religion?
This is the dilemma faced by many Amish and Mennonite parents in Lancaster County, Pennsylvania, whose children suffer from genetic diseases at rates exponentially higher than the rest of the population. These Plain People, as they call themselves, typically eschew technology. But 30 years ago, they chose to step out of character and embrace the latest advances in genomic medicine to help save their children.
Reporter Kyrie Greenberg spent almost a year getting to know some of these families, and she produced this podcast with us.
Hosts: Michal Meyer and Bob Kenworthy
Producer: Mariel Carr
Associate Producer: Rigoberto Hernandez
Reporter: Kyrie Greenberg
Original music composed by Zach Young
Additional music courtesy of the Audio Network
High-Tech and Amish: Using 21st-century medicine to maintain a 300-year-old way of life
Chapter 1: Introduction
Michal: Hello and welcome to Distillations, the science, culture, and history podcast. I’m Michal Meyer, a historian of science and editor in chief of Distillations magazine, here at the Chemical Heritage Foundation.
Bob: And I’m Bob Kenworthy, CHF’s in-house chemist.
Bob: There’s not a parent in the world who wants to see their child sick. Usually it’s not a big deal, you follow doctor’s orders, and soon your kid is better. But sometimes it’s more complicated.
Wesly Leinbach >> She was just washing and washing and washing her hands, and she said there’s ants and I can’t get them off. And there were no ants.
Mark Martin >> They get sick very rapidly and that was always scary because that always meant the possibility of brain injury…or death.
Michal: So what do you do when your child is really sick, and the reason why has to do with decisions the founders of your religion made more than 300 years ago? And how do you handle it when the medical solutions seem to run counter to that very same religion?
Bob: This is the dilemma faced by many Amish and Mennonite parents in Lancaster County, Pennsylvania. But what they’ve chosen to do might surprise you.
Michal: Kyrie Greenberg spent almost a year getting to know Amish and Mennonite families in the area and she reported and produced this story with us.
Kyrie: It’s a Saturday afternoon in June and I’m at an auction in Leola, Pennsylvania, a small township about seventy miles west of Philadelphia. The parking lot is packed with dozens of horse-drawn buggies and there are children everywhere— at the candy booth, tossing a football. Teenage girls cling in groups, wearing matching handmade backpacks. And dads hold sleeping babies, with toddlers at their feet. Almost everyone here is Amish or Mennonite. They’re two distinct but similar religious groups that both call themselves Plain people, because of their dedication to a simple way of life. They dress alike—shin-length dresses and bonnets for the girls and women, button-down shirts, straw hats, and suspenders for the men. And then there are the blue eyes. I’ve never seen so many blue eyes in one place. Several hundred Plain people have come out to what are actually four simultaneous auctions, selling—
Mark Martin >> Just about anything, any knickknack you want and think of to put on your wall or put on your shelf.
Kyrie: Mark and Lorraine Martin are Mennonites who live in nearby Lititz. Mark helps run the auction.
Mark Martin >> Tables, chairs, furniture, trees and plants and farm equipment… and supplies for the barn and supplies for the kitchen.
Lorraine Martin >> Fertilizer for the fields.
Kyrie: But the big stage is reserved for the main event: the quilt auction.
Auctioneer>> Quilt number one is a…that’s a very old pattern, eighty-eight by one hundred…>>
The quilts bring in a lot of money. To put it in perspective, each year there’s one called a postage stamp quilt—
Mark Martin >> That’s a quilt made up of little postage stamp pieces of-
Lorraine Martin >> One inch by one inch.
Kyrie: It’s donated by a local quilter and it alone sells for between three and five thousand dollars. The auction’s a big deal, because every dollar from each knickknack, bag of fertilizer, and quilt goes to support a medical clinic about ten miles down the road. It’s called the Clinic for Special Children and from the outside well, it looks pretty plain. It’s nestled between a cornfield and a cow pasture and you could easily mistake it for one of the area’s many barns. But inside, instead of hay or horses, doctors, nurses, and scientists treat close to one thousand sick Amish and Mennonite children.
Underneath the old world charm of Amish country lies a problem. Centuries of intermarrying hasn’t just produced a lot of blue eyes. It’s also resulted in high rates of genetic diseases because of a lack of variation in the gene pool. It’s a phenomenon called the “founders effect,” and insular communities around the globe suffer from it—from tribes in South India, to Ashkenazi Jews, to people in Finland. In Lancaster County sixty thousand Amish people can trace their roots back to just eighty founders who immigrated to the area in the 18th century. In Europe they faced religious persecution and intentionally segregated themselves from mainstream culture.
Their neighbors, the Old Order Mennonites, share a similar story, with a different small set of founders.
The bottleneck effect is a related genetic phenomenon that also causes Plain people problems. It’s like ladling one scoop of soup from a giant pot. Adam Heaps is the executive director at the Clinic for Special Children, but started as a lab tech in the clinic’s basement.
Adam Heaps >> So everybody else that comes from that scoop is going to only be able to inherit the things that are present in that ladle.
Kyrie: It doesn’t matter how many vegetables—or genes—are in the rest of the pot. If they don’t make it to the ladle, they’re not getting passed on.
And with each generation that intermarries, that same small pool of genetic material keeps getting reused, and the chances of inheriting certain traits increase. That’s why hundreds of genetic diseases rarely found in the general population show up more often here, and the numbers keep going up.
Many of these diseases are fatal if left untreated and threaten the community’s very existence. So thirty years ago, the Amish and Mennonites of Pennsylvania began doing something that to outsiders might seem to go against to their very way of life: they started embracing the latest in biomedical technology.
Chapter 2: The Leinbachs – A Mysterious Illness
Kyrie: Sheryl and Wesly Leinbach are a Mennonite couple from Lebanon County, Pennsylvania. They’re here with five of their six kids.
Sheryl Leinbach >> We have one other boy, but he’s with his grandma.
Kyrie: The little boys are dressed like Wesley—grey dress pants, white button-down shirts, and the girls are dressed like Sheryl in matching long lavender dresses that reach their calves.
Thirteen year-old Louisa keeps an eye on her twin siblings while they nap in their stroller. She’s a fine now, but as a baby she was gravely ill. She was just four days old when Sheryl noticed—
Sheryl Leinbach >> She’s not opening her eyes, she’s not opening her mouth. A baby has got to open her mouth to nurse. I knew something was terribly wrong.
Kyrie: The next day Louisa had a seizure, and they went to the hospital.
Sheryl Leinbach >> We had no clues. I prayed that if she’s going to be brain damaged, that God would just take her. I didn’t think I could deal with having a child that’s not okay.
Kyrie: Louisa got the standard newborn screening at birth—it’s a blood panel that checks for high levels of chemicals that indicate disease. But the nurse didn’t send it out right away.
Sheryl Leinbach >> She was six days old when the newborn screening came.
Wesly Leinbach >> By that point she was basically in a coma.
Kyrie: When the screen finally arrived, they learned Louisa had Maple Syrup Urine Disease, or MSUD. It’s a metabolic disorder where you can’t process protein normally, and an amino acid called Leucine builds up in the body and makes a neurotoxin. That creates sweet smelling urine and earwax, hence the name. It’s crucial to identify MSUD within the first few days of a baby’s life because the leucine in breastmilk is toxic for them. It can cause permanent brain damage and symptoms of severe cerebral palsy. Untreated, it’s fatal.
MSUD is rare in the general population, it occurs in only one out of 180,000 babies. But in some Mennonite communities the rate is one in 400.
Still, Sheryl and Wesly had never heard of the disease—none of their family members had it. No one in their church had it. They had no idea what was going on.
The hospital they went to in Hershey, Pennsylvania didn’t know much about it either. They told the Leinbachs—
Wesly Leinbach >> “Here’s this disease. We don’t know anything about it. We don’t know what we’re doing.”
Kyrie: But they knew a place that did: the Clinic for Special Children, one county over.
Wesly Leinbach >> Praise the Lord we did because that’s the best place possible for caring for maple syrup disease.
Kyrie: Even though the clinic was well-known in Lancaster County, and had developed the
infant formula that would save their daughter’s life, the Leinbachs lived just far enough away that they had never heard of it. But they began to breathe easier when they talked to Dr. Holmes Morton, the clinic’s founding medical director.
Sheryl Leinbach >> He said, “She’s going to be normal. I have MSUD children who are A-students in school.” Those A students fringed all my dreams and I knew that no matter how hard this was going to be, we were going to do it.
Chapter 3: The History of the Clinic
Kyrie: In the late 1980s Morton was a pediatrician at the Children’s Hospital of Philadelphia, when Plain children from Lancaster County started showing up at his office with a mysterious condition. They were healthy at birth, but then they’d have debilitating seizures days, weeks, even months later. No one really knew what it was, so they were calling it “Amish Cerebral Palsy.”
But Dr. Morton figured out that these kids actually had a rare metabolic disease called GA1, or Glutaric Aciduria, Type 1. At the time it was so rare there was only eight known cases in the world. And he had found sixteen cases. In one county.
He quickly realized that GA1 was just one of many diseases devastating Plain families and that there was enough work to do in the community to last his entire career. He moved to Lancaster County and persuaded community members to help him set up a medical clinic. He wanted to create a place that could perform medical research and treat patients. In order to do this he knew the Plain community would have to feel some ownership over it. So he went about it in a very careful way. Starting with building the clinic.
Holmes Morton >> There were about eighty people gathered there on and on- and-off rainy day to raise the timbers of the clinic, and that was done intentionally in hope that it would help people see the clinic as part of this community.
Kyrie: These days it’s not unusual to see a horse drawn buggy or two in the clinic’s parking lot. And it’s hard to get over the paradox that a community that rejects cars and electricity would travel by horse to get their blood tested for amino acid levels, or to get their genes sequenced.
But it makes sense to Kevin Strauss, He’s the clinic’s current medical director. His eyes narrow when others characterize the Plain community as unsophisticated.
Kevin Strauss >> I think there’s a misunderstanding about the relationship of the Plain people with technology in general.
Kyrie: For one thing, Plain people are extremely practical. They don’t reject technology overall, just the stuff they feel doesn’t help their community stick together.
Kevin Strauss >> So they have an aversion to technologies that emphasize individual over community. They have an aversion to technologies that make it too easy to be far away from your community, like automobiles. But, they’re actually very pragmatic with regard to the application of technology generally.
Kyrie: So when something threatens their community, like diseases that run in families they’re usually willing to use technology that provides a solution. At a TED X talk a couple years ago, Dr. Strauss recalled one of his early encounters with GA1. He was treating an eleven month-old Amish patient who was born healthy, but then—
Kevin Strauss >> She had a fever for about twenty-four hours, a respiratory illness, her mother put her down for a nap, went to pull her out of her crib, and found her paralyzed.
Kyrie: We met Mark Martin earlier. He runs a small accounting business out of his home, and isn’t the kind to show much emotion. But without the clinic’s research, something like this would have happened to his daughter.
Mark Martin>> It’s our child and to us we want to alleviate pain. I think for most Plain people that’s a big part. We like to help people to alleviate pain because no one likes pain. And so for us to take treatment that was known at the time that helped our child, to us that’s what you did.
Kyrie: The clinic was Morton’s way of realizing two dreams: doing front-line research and practicing a kind of old-school family medicine where you see the same patients for much of their lives. It turns out that Morton was on to something. The old-school method is one of the best ways to research genetic diseases. Today the clinic treats about eleven hundred patients, and can identify 225 different diseases by their genetic variants. They’ve achieved this by talking to patients, visiting their homes, reading their diaries, browsing their church records, and showing up at their weddings. And, of course, by running a lot of blood tests.
Chapter 4: Living with MSUD
Mark Martin >> Crystal really liked going to the clinic when she was a little girl. She still likes going to the clinic.
Kyrie: This is Mark Martin again. These days his eighteen year-old daughter Crystal helps him during tax season, and works in the Mennonite school nearby. She also has MSUD, just like Louisa Leinbach. When Crystal was little she went to the Clinic for Special Children regularly to get her blood drawn to check her leucine levels. Upstairs, the clinic sees patients. Downstairs, it analyzes samples for treatment and research.
Mark Martin >> One of the nurses would pull the blood. Then they’d give her the blood and she’d proudly carry it down the aisle and take it into the laboratory. She just loved that job. Nowhere else in another hospital could you do that.
Kyrie: The only cure for MSUD is a liver transplant. And both Crystal and Louisa have now gotten one. Crystal’s two cousins also received transplants.
Crystal Martin >> Before my cousins were all married we used to have sleepovers and see who could have the best scar.
Kyrie: Liver transplants are no small thing. But the Martins and Leinbachs say worrying about organ rejection is nothing compared to managing an MSUD diet.
Lorraine Martin>> No eggs, no flour, no cheese, no peanuts, no…
Mark Martin>> Crystal was not able to have mother’s milk so she wasn’t able to breastfeed. We had to have formula and mix all the additives back in, because eighteen years ago they didn’t have MSUD formula as they have today. We had a small chemistry lab here because we had to add a couple items, quite a few items.
Kyrie: Crystal says the formula wasn’t a perfect substitute for eating like a regular person.
Crystal Martin >> I’d always wake up with brain fog, ‘ugh it’s time to get up.’ If I got my formula in by 8 o’clock. Usually around 8:30, 9 o’clock. I’d feel normal. Lunch I’d have some. And then I was supposed to do it when I came home from school but that didn’t always happen. And then in the evening before bed.
Kyrie: The burden of their daughters’ diets fell mostly on the mothers.
Lorraine Martin >> It was still mom’s job to make sure everything happened, keeping the child healthy.
Kyrie: Both Lorraine and Sheryl made every attempt to give their daughters “normal” food.
Lorraine Martin >> Pizza, I would make her pizzas and individually wrap them and sometimes we’d go to Pizza Hut, we’d take her piece along and wrap it in a silver foil to keep it warm till we got there.
Mark Martin >> Because some Pizza Huts wouldn’t warm it for you and some would.
Sheryl Leinbach >> We’d often go over to his family for meals, just for a supper, birthday suppers or whatever. I’m standing there holding a kettle and just off in space. They’re looking at me like, “Can I help you with something?” “No! I’m just trying to figure out how much broccoli this girl can eat.”
Kyrie: Despite all the calculations and special pizza, children with MSUD inevitably get sick. The Leinbach’s will never forget one especially scary episode with Louisa.
Wesly Leinbach >> She was just washing and washing and washing her hands. Sheryl said, “What’s wrong?” She said there’s ants, I can’t get them off. And there were no ants, her mind was intoxicated. She would see spiders coming out of the ceiling and she would see things crawling on the floor and coming out of the walls. It was very real to her and, you know, it’s not fun to see your child hallucinating.
Kyrie: And a run-of-the-mill stomach bug can land them in the hospital.
Mark Martin >> They get sick very rapidly and they end up in the hospital very quickly because their levels rise rapidly. That was always scary because that always meant the possibility of brain injury or death.
Chapter 5: The Science of the Lab
Unlike the Leinbachs, Mark and his wife Lorraine knew about MSUD before they even had kids. Lorraine had two nieces with the disease, so they knew it ran in the family and they got carrier testing at the Clinic. Adam Heaps says when gene sequencers became available they transformed the clinic’s lab. All you need is a blood sample and—
Adam Heaps >> We have the capability onsite to do what we called target and mutation test, which allow us to very quickly and rapidly and inexpensively determine if somebody is a carrier, or if they’re not a carrier, or if they’re affected, meaning that they have two copies.
Kyrie: After the human genome project completed in 2003, researchers finally got a standardized map to compare all of a person’s 24,000 genes.
Adam Heaps >> Genes started to be mapped more efficiently and the functionality of those genes and how they affected things in the body became much more well-known.
Kyrie: Before the genome project was completed, the Martins knew they each had the recessive genetic mutation that causes MSUD from a test they got at the clinic. Each of their children would have a 25% chance of having the disease. Their first two didn’t have it. But Crystal was
diagnosed 12 hours after she was born using a sample of umbilical cord rushed over by the midwife.
Mark Martin >> We didn’t have that scary avenue of finding out what’s wrong with the child and figuring out all that.
Kyrie: The Martins had 9 months of knowing their baby might have MSUD. When they found out she did have it, right after she was born, they knew not to give her breastmilk. They knew they had to monitor her leucine levels. They knew they were in for a life of carefully prepared meals. When Louisa was born in 2004, the Leinbachs were blindsided. They had no time to prepare. And of course they had those six long days of not knowing what was wrong with their daughter. The older generation of MSUD patients haven’t fared as well as Louisa and Crystal because they didn’t get to receive the early interventions. Many have died, and those that survived have suffered irreversible brain, nerve, and muscle damage. In hindsight, the Leinbachs wish they’d done carrier testing before they had kids.
Wesly Leinbach >> Everybody thinks nothing like that is in my family, it won’t happen to me. We felt that way too, everybody does.
Kyrie: Their subsequent children had genetic testing right after birth, and they have persuaded family members to get carrier testing.
Wesly Leinbach >> Obviously at this point for us we’re all for it. We think it’s a great idea, but there are a lot of people that aren’t sure that you should do genetic testing. We like to recommend that young folks get tested before they start courting because you can’t have a child with maple syrup disease unless both the husband and wife are carriers. If you do the testing ahead of time and don’t court someone that’s a carrier if you are, then it’s no issue. A lot of people say “ehh…” they think that’s going too far.
Kyrie: There’s a range of opinions about genetic testing among Plain people. They’re committed to marrying within the community, but they don’t want to see their children suffer. Still, Wesley Leinbach’s ideas rub some people the wrong way. This is Adam Heaps:
Adam Heaps >> They don’t want their carrier status to influence who it is that they are marrying. But they do want to be prepared to send that umbilical cord sample, to have a child with MSUD or another disorder, you know, to know all those things ahead of time, but not to prevent them from seeing somebody.
Kyrie: Carrier testing lets you know about the likelihood of your children having certain genetic diseases. Pre-natal tests like amniocentesis or CVS can tell you with some certainty what a fetus actually has. But these tests pose small risks to the baby. And this is where the community tends to draw the line.
Sheryl Leinbach >> So why would I do a test like that when we’re committed to keeping the pregnancy?
Wesly Leinbach >> It wouldn’t make a difference to us whether the child had maple syrup disease or not. We’re not going to terminate a pregnancy.
Kyrie: In Vitro Fertilization could also help the Plain community. With IVF a couple could screen embryos for certain genetic traits and select ones without known diseases to implant. The problem is, what would they do with the unused embryos? Discarding them would go against their faith. This is Adam Heaps again.
Adam Heaps >> Families tend to want to be prepared for special needs children rather than take steps to prevent them from happening. Do I think that IVF will at some point become commonplace? I don’t know. I don’t think it’s anywhere close to that now.
Chapter 6: How the work at the Clinic helps everyone
Holmes Morton >> We think there is no better way to advance the proper care of medicine than to give our minds to the discovery of the unusual law of nature by careful investigation of cases of rare forms of disease.
Kyrie: Morton set up the clinic almost thirty years ago to treat sick Plain children as well as he could. And once they were under one roof, it was also an excellent opportunity to study and push forward the entire field of genomic research. Amish and Mennonites are a geneticist’s dream: they live in insular communities and keep excellent records.
Kevin Strauss >> It is somewhat ironic, and I think is one of the things that intrigues people about this place. That here we are in the cornfield, but I think it’s fair to say we’re doing some more advanced applications of the technology than many of the major medical centers in the Northeast, many of the major children’s hospitals.
Kyrie: In other words, we’re only just starting to get the kind of individualized medical care Plain families have been getting for years.
Kevin Strauss >> Genetic errors are part of the human condition, and the fact that we have limited understanding of it, and can only apply that knowledge to a select group of people doesn’t change the fact that in the very near future genetics and genetic knowledge will be every bit as important in your healthcare as it is in the care of these children, actually.
Kyrie: Medicine owes many of its advancements to the Plain people. But if you ask them, this research is a story of hope, but also of great loss.
Sheryl Leinbach >> We’re thinking of the early MSUD families who made it possible for our daughter to be normal. We also need to credit the early transplant families. The first liver transplant patients did not make it. That whole picture has
changed, so we owe something to those early families who laid their child on the table for a transplant so that it could benefit down the road.
Kyrie: Liver transplants are the only cure for many diseases in this community, some even harder to treat than MSUD. But they’re often considered trading one set of problems for another. So some families are looking to the next frontier—gene therapy. It’s been talked up as a cure some diseases at least a decade, and now the science is catching up. This year, a biotech company will run the first human gene therapy trial for a disease called Crigler Najjar. And when the company needed subjects they called the Clinic for Special Children. The trial is in its
first phase, and a few Plain families have expressed interest in the groundbreaking study. Parents say that they sign up for studies not just for their child, but for those to come.
Wesly Leinbach >> We realize that we have benefited tremendously from what all the folks before us have done and we owe them a lot. And we’ve always been of the mindset, if we can be a benefit to someone down the road go for it.
Michal: Distillations is more than a podcast. We’re also a multimedia magazine.
Bob: You can find our videos, our blog, and our print stories at Distillations.org.
Michal: And you can also follow the Chemical Heritage Foundation on Facebook and Twitter.
Michal: Our producer is Mariel Carr.
Bob: And our associate producer is Rigoberto Hernandez. Michal: This episode was reported by Kyrie Greenberg. Bob: And the music was composed by Zach Young.
Michal: For Distillations, I’m Michal Meyer.
Bob: And I’m Bob Kenworthy.
Bob and Michal: Thanks for listening.