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Struggling With Pretzel Syndrome - A Rare Genetic Disorder of the Amish and Mennonite - featured Sepember 7, 2010

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It is said that there are only 20 known cases of "Pretzel Syndrome," a genetic disorder that occurs exclusively in the Plain Sect Communities. Learn about this tragic disease that claims most of its victims by age six.

[Source: Lancaster Farming.com]

BROWNSTOWN, Pa. In a tidy ranch house with a well-manicured lawn in the sleepy little town of Brownstown, Pa., young couple Bryan and Janita Burkholder take time to chat quietly about a rare genetic disorder discovered in 2005, called pretzel syndrome, and about the Lancaster County clinic for local genetic disorders that is helping them.

The Burkholder s 18-month-old daughter, Katelyn, who was diagnosed with the syndrome, snuggles restlessly with her mom on a brown plaid, overstuffed easy chair while they talk, Janita s arm holding her daughter close.

We ve learned a lot since she was born, said 24-year-old Bryan. Janita, 23, nodded in agreement.

It s been a rough road for the family. Although Janita s pregnancy seemed fairly normal, she had experienced extra fluid and pre-term labor, which they now know are typical of pregnancies for pretzel syndrome babies. But ultrasounds and other testing during her pregnancy showed nothing wrong at the time.

Then, the couple wondered if their infant daughter was showing some mild delays in her development concerns that any parent might have. But it was on Father s Day, June 2008, Bryan recalls, two-and-a-half months after their daughter was born, that someone from their church first mentioned Katelyn seemed to share similarities with another child in the church who had been diagnosed with the rare syndrome.

At four months old, Katelyn suddenly had a seizure. It was the first of many. They seemed to come on when she had an illness, especially a fever.

One time she had eight seizures in one day, said Janita.

Since then, this gentle toddler has battled seizures, struggled with restless limbs (called chorea ), improperly formed joints and weak muscles that leave her unable to crawl and move around normally.

Due to Katelyn s weak eye muscles, she needed to have eye surgery. Later, she needed a second eye surgery to correct the problem further, Bryan said. Now, behind her wire-rim glasses, Katelyn s alert eyes and big smile are contagious to others in the room. But her playful demeanor belies the genetic disorder that has had such a strong impact on her young life. Most problematic are Katelyn s severe mental and emotional delays, brought on by an improper growth of her brain cells. The Burkholders now know that their young daughter probably will never be able to walk or talk due to a tiny mutation in her genetic makeup.

The Burkholders are a courageous couple, said Dr. Kevin Strauss, a pediatrician working with rare genetic disorders at the Clinic for Special Children in Strasburg, Pa., which was started in 1989 by another pediatrician, Dr. Holmes Morton, specifically to work with children in the Plain Sect religious communities who have inherited disorders.

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Tags: Rare Diseases and Disorders News of the Week Pretzel Syndrome Newsletter 10 September 2010