Amish Plagued By Genetic Disorders

KYW.COM ^ | June 8, ,2005 | Vicki Mabrey

[NYer]

It doesn’t get much more peaceful than the simple life among the Amish in rural Ohio. They have no cars, no electricity, no televisions.

But their children have medical conditions so rare, doctors don’t have names for them yet, reports correspondent Vicki Mabrey.

The Amish make up only about 10 percent of the population in Geagua County in Ohio, but they’re half of the special needs cases. Three of the five Miller children, for example, have a mysterious crippling disease that has no name and no known cure.

Their father, Bob Miller, says he realizes there is a crisis in the community, which is why he and two other fathers, Irwin Kuhns and Robert Hershberger, have agreed to break a strict Amish rule that forbids them to appear on camera. The three sat for an informal interview.

The three Byler sisters were all born with a condition that has no cure and mysteriously leads to severe mental retardation and a host of physical problems. Last year, doctors figured out the girls have the gene for something called Cohen Syndrome; there are only 100 known cases worldwide.

Since then, more than a dozen other cases of Cohen’s have been discovered in Ohio Amish country.

“Nobody knew it was around here and we found, what, 20 to 30 cases in this area now that they didn't realize. Nobody knew about it, says Irwin Kuhn.

But for so many years, the Amish have had no names for these disorders. It was simply a mystery why half the headstones in Amish cemeteries were headstones of children.

The genetic problems come down to something called the "founder effect" because the nearly 150,000 Amish in America can trace their roots back to a few hundred German-Swiss settlers who brought the Amish and Mennonite faiths to the United States in the 18th century. Over generations of intermarriage, rare genetic flaws have shown up, flaws which most of us carry within our genetic makeup but which don't show up unless we marry someone else with the same rare genetic markers.

Kuhn and Miller admit these conditions have gotten more widespread in recent years. So much so that concerned families pulled together, held an auction and raised enough to build a clinic within buggy range of all the Amish. They also hired a pediatrician and researcher named Dr. Heng Wang to start caring for their children.

Kuhn’s daughter isn’t doing well at the moment, but now he can take her to the clinic every day, if needed, and the doctor has even made house calls at his home.

While 60 Minutes Wednesday was in Ohio, Dr. Wang made a house call to check on the Miller children. Bobby Junior, the sickest, can’t tell Wang what’s bothering him because he can’t even talk.

And the doctor was treating these challenging cases under the most rudimentary conditions since Amish custom prohibits electricity. Still, he doesn’t complain. In fact, he calls the heritage beautiful and says, “We are not come here to change them.”

Certain homes, like the Miller’s, have taken small steps toward change. Some with lifesaving medical equipment have asked for special dispensation from the Amish bishop to install solar panels to run the machines.

Iva Byler, mother of the three girls with Cohen Syndrome, made an even more drastic change eight years ago, after her third child in a row showed signs of this crippling disorder.

The eldest, Betty Ann, is 24 and functions at a 9-month level. Irma is 21 and functions as a 5-year-old; Linda, at age 18, can’t even sit up.

“I knew as soon as I had the third one, I knew,” she says. “They kept telling me, ‘No, she's OK. No, she wasn't. I could hear by her cry that she was gonna be like the others. Their cry is different. You can tell. After you've lived with it that long, you know.”


Now, when she needs to go to the doctor, she wheels the girls into her van. She’s left buggy rides, and the whole Amish lifestyle, behind. But the price was being shunned forever by the community, as well as her ex-husband and her two healthy adult children.


Irma’s now tuned in to the 20th century, and Iva’s plugged into the 21st. Using a genealogy web site, she’s figured out she and her ex-husband were distantly related, something that appears to be common among the Amish.

“I don't think the Amish really understand that it's a genetic disorder that causes the handicapping condition,” Byler says.

The Amish think it is God’s will; “Gottes Wille” is how they describe it.

Dr. Harold Cross, who’s from an Amish background himself, has heard that for more than 40 years, since he first discovered the high incidence of genetic problems in the Amish in the 1960s.

“Although we used state-of-the-art medical technology and genetics technology at the time,” he says, “we didn't know about the human genome. We weren't able to--to drill down and get to the specific molecular defects. So I always felt like we hadn't finished the job that we had started doing.”

He’s finishing the job now, learning by examining some of the children in Geauga County, Ohio, and teaming up with researchers in a London lab to find the actual genes that are causing the Amish disorders.

“What we're really trying to do eventually by pinning down the mutation is to find some kind of treatment,” he says. “If we can find out what went wrong, we might be able to correct it.”

They’ve already identified genes to several rare conditions, including this debilitating seizure disorder found in only 12 people worldwide, all Amish children.

There are no cures in sight yet, but these doctors are able to offer the next best thing: pre-marital testing, to help future parents avoid these tragedies.

It’s a powerful new tool for the Amish, if they choose to use it.

Despite the illnesses in his family, Miller would not use such tests. “That's our-- our lifestyle is that way. We-- we trust God to take care of that, you know? We just, just the way we—we - live.”

Joyce Brubacker, who comes from the slightly less-orthodox Mennonite faith, says at minimum the Amish and Mennonites should be testing their children as soon as they’re born. That’s what saved her daughter Shayla’s life. After her first child, Monte, died of an unusual-sounding genetic condition called Maple Syrup Urine Disease, Joyce had Shayla tested, and she was positive.

With Maple Syrup Urine Disease, the body turns protein into poison, causing brain damage. Shayla was immediately put on a strict low-protein diet. Now, she’s 20 years old and healthy.

If she had not been tested, Shayla says, “I probably would have been in a coma or died at that point, or had brain swelling which would have took me very dramatic. I mean it would just-- boom, boom, boom and I woulda been dead.”

Right now, the best prevention for many of these mutations is to prevent intermarriage, which is hard to do.

Marrying outside the faith could create a healthier gene pool, but it would also ultimately destroy the very essence of what it means to be Amish.

“I have a son that married a girl, they share the same great-great grandfather,” says Iva Byler. “And when he called me to tell me that he was gonna get married, I said, ‘Do you realize that you already stand a big chance to have a handicapped child since you have three siblings.’ And he says, ‘Yes, I know.’ He got married anyway.”

[Conservatrix]

What I meant to add to the last post was that indeed, the Mennos and Amish by definition HAVE to be cousins even 6-7th generation abck, or closer. I often ask the ones that I know are related, "Oh, isn't so-and-so your cousin?" And they say, "Naw." That is because they are 3rd cousins. I think they only count 2nd cousins as being related. A very dangerous mentality. Or they will say "we are not related that we know of", even though they share a VERY common PA Dutch name. (Not names that the "rest" of the people out here have, and these are people in their own denomination!!! So perhaps that is where the trouble lies. They need to see how close is close.

[AnAmericanMother]

I have two distant German ancestors from PA way, way back -- they may have been kin to these folks. A lady who rejoiced in the name of Maria Magdalena Vogelsang, born some time in the 1770s, most likely (married a man named Schnepp or Schnapp, born in 1766). Any Vogelsangs or Schnepps among the Anabaptist immigrants?

With the exception of an Ott that I have been unable to trace back to Germany from early 19th c. South Carolina, the rest of our family is exclusively British - mostly Scottish and Irish with a heavy admixture of English and a sprinkling of Welsh.

The frightening birth defects out there for those of us of almost exclusively British ancestry are the neural tube defects (spina bifida etc.) We watched the kids in utero like hawks for that one . . . and I took folic acid until it was coming out my ears. Thank heavens both born free of that trouble.

[Conservatrix]

Oh yes, the Dunkard Brethren still exist. My children go to a Dunkard Brethren school.
They basically dress like the conservative Mennonites except for some of the really plainer ones who wear a cape apparatus over their cape dress, and tight long sleeves in all weather. The baptize by "dunking", or immersion, in contrast to the Mennos and Amish who, like Catholics, sprinkle water on the head (but NOT on babies!!!)

One of my ancestors was Daniel Cripe, a Dunkard Brethren minster in Indiana.

[AnAmericanMother]

Most folks only count the 2nd cousins.

The forbidden degrees usually only include 1st cousins - plus one more "for luck".

That's usually plenty where the cousinships aren't steadily accumulating . . . and they usually don't. Under normal circumstances even in a small Southern town the most you'll get in a marriage is double cousins on two branches.

Although when my dad was a kid in Rome, GA, he was sitting on the levee with a bunch of his schoolmates, maybe 8 or 10 guys (it was a boys' school), and they realized after some desultory conversation that they were ALL related.

Of course they almost all looked elsewhere for their brides. Dad married a girl whose parents were both from Augusta GA. We've never found any cross-matches in their family trees, and I have a solid eight generations now on ALL branches - some a good deal further back.

[Pharmboy]

Here's another classical American "founder effect" genetic disease:

Tangier Disease

by Jackie Newman

Tangier Disease is an extremely rare autosomal recessive metabolic disorder. Documentation shows that as of 1988, 27 cases of Tangier Disease had been reported (Makrides pg.465) and in 1992 the reported cases were still fewer than 50 persons worldwide (Thoene pg.265).

The majority of the cases tend to localize in one single area of the U.S., Tangier Island, Virginia. The fact that most of the people that are affected by Tangier disease all live in close proximity to one another could be due to Founder's effect. The original settlers to the island came in 1686 and it is possible that one or two of them were carriers of the disease or actually had the symptoms and passed it down through the blood line.

Characteristics of Tangier Disease include increased levels or even a complete absence of high-density lipoproteins (HDL) concentrations in one's plasma, low cholesterol levels in the plasma, increased cholesteryl esters in the tonsils, spleen, liver, skin and lymph nodes. One easily visual characteristic usually found in children with Tangier disease is the presence of enlarged, yellow-orange tonsils.

Initial research of Tangier disease showed a marked decrease in the HDL concentrations when compared to normal controls. In some cases the reduction was as great as 50% (Schmitz pg.6306). Scientists studied the HDL concentrations and looked for any possible links in its involvement with the disease. They specifically looked at the apo A-I (apolipoprotein) concentrations, which is a major protein component of HDL.

The main hypothesis was that apo A-I was structurally abnormal. Studies proved that this was incorrect because the DNA- derived protein sequence for Tangier apo A-I was identical to the control groups apo A-I sequence (Makrides pg.468). Scientists discovered that the cause of Tangier disease is involved with the intracellular membrane trafficking of the HDL. Normally macrophages inside the cell have receptors that bind the HDL. After the HDL is bound it is transported into the endosomes. The endosome is transported through the cell without any degradation by the lysosome and the HDL is eventually resecreted from the cell. It is during this cycle that there are problems for the Tangier disease people. When the HDL is allowed to bind to the receptor monocyte, the two stick together but they never separate. The HDL is not resecreted outside the cell (Schmitz pg.6308) The data suggest that there is a deficiency in the cellular metabolism of HDL in the Tangier monocytes. The HDL-monocyte unit together also supports the observed condition of high concentrations of excess cholesterol in body tissues.

Currently the treatment for Tangier patients is dependent on the various symptoms, ranging from heart surgery to removal of organs. Gene therapy has been proposed as a possible treatment but is difficult because there isn't anything wrong specifically with the gene involved in the HDL conversion. The problem is in the cellular transportation. Many of the specific processes within the cell are still not known so any extensive treatment is still investigational.

[Conservatrix]

You can certainly convert to these groups, but there is a big cost.
There are several types of Amish. The Old Order Amish are the ones you commonly think of: buggies, etc. The Beachy Amish, however, drive cars and are a little more "out there" outside their own community. You'd stand a better chance being accepted into (and being part of) a Beachy church.
There are Mennonites (called Wenger Mennonites) who drive buggies similar to the Amish. There are Mennos on the other end of the spectrum who wear normal modern clothing, women with cut hair. They believe much more in the spirit of Menno Simons and the Anabaptist path than the letter of the law (which in most cases was man-made to begin with). You would have no problem hooking up with a Lancaster Conference Mennonite church. Beware that some are getting rather liberal, accepting homosexuality, but for the most part they are still conservative.

[Conservatrix]

Have not hear those names. This is not an exhaustive list but these are the most common names I have encountered in my 13 years with these people:

Martin, Miller, Byler/Beiler, Fisher, Oberholtzer, Brubaker, Nolt, Zeiset, Ebersol, Yoder, Detwiler, Stolzfus, Fisher, Mast, Bender, Beachy, King, Kauffman, Horning, Wenger, Gingerich, Hostetler, Schmucker, Noecker, Aungst, Zook, Lapp, Zimmerman, Noll, Swartzentruber, Weaver/Weber... there are more but it is getting late....

[ahayes]

And actually, in most of people with defects that I personally know, the relationship between the married couples was not very close (not any cousins that they were aware of). My friends who are the 3rd/4th cousins have 6 healthy children although she did just have a miscarriage. (That can happen to anyone).

I think the problem with the founder effect is that one founder of the original population brings in a recessive gene which in the first generations doesn't show up because all offspring are either normal or carry one copy of the recessive gene. However, as more and more generations build up, more and more of the people in the population carry that recessive gene, and there is a greater chance of two of them marrying and having children. If both carry one copy of the recessive gene, every child born to them has a 25% chance of getting two copies and developing the disease, a 50% chance of getting one copy and being a carrier, and a 25% chance of getting the normal genes.

So at this point the negative recessive genes are spread so far throughout the population that merely marrying more distant relatives isn't going to successfully avoid it.

[Do not dub me shapka broham]

I remember seeing one of them-who I presume was a Mennonite-driving a big black Lexus, when I visited Lancaster years ago.

Very odd.

[NYer]

Just wondering if you can identify a group of Amish or Mennonites based on their dress. Last year I noticed a group taking a tour of the NY State Capitol. The girls wore pastel colored dresses - pink, lavendar, mint green, yellow - with white collars (?) and hats. The group was far too large to have arrived in buggies so I am guessing they came by bus. There has been an influx of Mennonites? (Amish?) to the areas just outside of Albany where farmers are selling off their land. Any thoughts?

[BluH2o]

Don't the Muslims also inter marry? Definitely the straight path to obsolescence.

Called inbreeding ... it will lead to genetic defects within a very few generations. An acquaintance of mine, a Mormon from Utah, told me that he brought a women back from Australia who he met while on mission (whom he married). The elders within the Mormon church, although not exactly condoning the practice aren't discouraging it to any extent either ... reason, it brings in fresh genes to the Mormon gene pool.

[Conservatrix]

Yes, the can drive a Lexus-- as long as the bumpers are black, not metal. Metal is too "showy" (I kid you not).

And while we are on that subject, the Mennonites and Amish are by and large wealthy by American standards. Definitely above middle class inome. Some I am aware of are millionaires.

Part of the reason is that is is really "old money", so to speak, and they are very good and responsible with their money and pass it on to future generations. Real Estate is a prime investment for them: large farms, good, solid businesses. AND they have an added benefit you and I can only dream about: they get to keep ALL their social security.

That's right, folks. They are exempt from social security tax. This means that while your retirement is getting squandered by Uncle Sam and the socialist hordes, THEIRS is being safety invested in real estate or some other conservative method, or invested in growing a business.

THe idea that these are "poor plain people" is just a lot of rubbish. I have seen many lovely Amish and Mennonite homes. The Mennos tend to live in more conventional homes because they use electricity. But their homes are usually large-acreage farms. The kids all drive beautiful cars (black, of course, if you are Horning Mennonite). The women drive huge, beautiful vans to haul the family around. Rarely if ever do you see an old-model vehicle among them. I have not see rust at a Menno gathering!!
And yet these same people will turn their noses at a Christian is not part of them-- even other Mennos of a different conference. Each one believes their style of dress and lifestyle is the RIGHT one. And you will ultimately be going to hell if you hav chrome bumpers on your shiny new Lexus!!!!

"Scribes, pharisees, hypocrites! for ye are like whited sepulchres, which indeed appear beutiful outward, but are within full of dead men's bones and of all uncleanness. Even so ye also appear righteous unto men, but within ye are full of hypocrisy and iniquity."
--Jesus Christ, Matthew 23:27-8.

[Conservatrix]

They were Amish. Amish of all kinds wear solid colors only. This goes for the Old Order AMish (who drive buggies) to the Beachy Amish (who drive cars). You can tell the difference by the head covering. The Beachys wear a covering more like the Mennonites-- a cap-like net thing. The Amish wear more like a bonnet thich ties under the chin sometimes but is bigger and looks more like a bonnet. The Old Order also wear a kind of black apron (or white) over the solid dress. Beachys and most Mennos who are plain wear what is known as a "cape dress"-- a one piece dress with a double front layer. They all wear the SAME dress pattern. Mennonites may wear patterened clothing-- but the kinds of patterns and the degree of "fanciness" depends on the conference. All of this is regulated by their little book of dogma, mind you-- what net weight of stocking you can wear, how long the dress must be, what kinds of patterns are acceptable, how the covering is to be constructed. It is down to a T and every church member knows exaclty how they must dress for that conference. For example, the Eastern conference looks down their noses at the Pilgrim conference. The Pilgrims would think the Hornings are legalistic. They would all think the Lancaster conference are apostate!!! The Lancaster conferece is all over the place, some plain, some not. Some Mennos may choose to wear solid clothing but the Amish a quite distinctive. This would be am Amish family (from the back. They are wearing Sunday or outdoor bonnets (black) which would be over the white head covering. This is traditional Old Order look.

This is a painting of a typical Old Order Amish girl with her white bonnet covering.

This appears to be Beacy Amish women praying. Different covering, solid clothes. They could be Horning Mennonite or older Mennonite women of almost any conference.

The file saus "Amish girls" but these are Mennonite women. The ones with the black overings are probably from a Lancaster conference but it coudl be others. The woman in the white covering with strings could be Eastern conference. The Amish would NOT wear colors like that!!! (They wear dark solids or bright solids). And the dresses have small patterns.

Hope this helps a bit.

[Conservatrix]

This is a typical Mennonite look in my area. Cape dresses and sneakers. Notice the patterns. NOT Amish. The Old Order do NOT wear cape dresses. Beachys also would not wear these capes because of the patterns. These gal could be Eastern Mennonite or perhaps Horning. They could be something else but they are Mennonites and not Amish.

[Conservative til I die]

Inbreeding, wonderful. The Amish get an unwarranted good rap from other Christians. I guess it's because they stick to their guns on technology. But really, it's cultic behavior and a ridiculous mis-application of Scripture. Christ said not to be of the world, but He also said we are IN the world. He didn't ask us to ridiculously obsess over who's wearing what color of buttons on their clothing.

[Conservative til I die]

Well spoken. Us modern Christians tend to look at the Amish in this condescending way because isn't it cute and quaint that they live old fashioned. Nevermind the deficient theology, the harsh shunning, and now the inbreeding of mutants.

[Conservativegreatgrandma]

HD is a dominant trait. My brother-in-law died of it as well as his father. His brother is also has it. There are many in our area with HD.

[abner]

I've often said that the Amish should adopt Chinese baby girls. That would help two problems at once. Get rid of the inbreeding AND save a few Chinese girls lives in the process. Imagine the name: Chang Zook.

[AnAmericanMother]

50/50 is bad odds, especially with a gene that needs only one copy to express.

Onset at around age 40 is bad too, because you've usually already had your kids and passed it on to the next generation.

My sympathies to your family. Are most of the younger folks in your area taking the new genetic test, or are they just letting the chips fall where they may?

[AnAmericanMother]

Well now I know that the group of girls we saw on the beach in St. Simons Island GA (in cape dresses, white caps, and flip flops!) were Mennonites.

I figured they were one of the Pennsylvania groups, knew they weren't the Old Order Amish, but didn't know what they were.

Their dresses were solid pastels, though, IIRC. Not prints.

Are there Mennonite communities in GA, or were they just on vacation?