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Collaborating with other researchers, notably Peter Crino, now of Temple University in Philadelphia, the CSC staff had determined that the immune system inhibitor Rapamycin (sirolimus) could quell the brain-ravaging seizures — considered the syndrome’s worst feature — and improve Jessica’s ability to understand others.
She would be able to happily interact with her family.
Morton co-founded the clinic with his wife, Caroline, in 1989, and garnered the unwavering support of the so-called Plain people it serves. The original timber frame was raised in 1990 in a single day by volunteers, who tirelessly generate about 60 percent of the facility’s annual .5 million budget through community donations, including old-fashioned auctions raising hundreds of thousands of dollars.
Working in a Philadelphia hospital lab in June 1988, Morton stumbled upon his life’s mission when analyzing the urine of a 6-year-old Amish boy diagnosed with cerebral palsy who had seemed completely healthy for more than a year after his birth.
And yet, critical advances in the understanding of Pretzel syndrome, or polyhydramnios, megalencephaly and symptomatic epilepsy syndrome (PMSE), meant Jessica wasn’t necessarily destined for the same dismal fate as her cousin.
Dawn and Cleason Sensenig, for instance, unwittingly each carried one copy of a mutation in a gene that causes PMSE.
Carriers like the Sensenigs are unaffected by the disease, which requires both copies of the gene to contain a damaging mutation.
But unlike her sister-in-law — and partly because of her relative’s tragic experience — Sensenig knew before she delivered in March 2012 that her baby might have a rare genetic disorder known as Pretzel syndrome.
In 2005, in a modest, country-style clinic only 13 miles away from her Mennonite family’s 150-acre farm in Lancaster County, Pennsylvania, geneticists had discovered the molecular underpinnings of the disease, so-named because those afflicted have joints and ligaments so loose they can bend like pretzels.
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They merely appear more often because of the groups’ genetic vulnerability.