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The first clue that Dawn Sensenig’s fifth pregnancy was different from the rest was her enormous belly.
Carrying so large in her last trimester that she measured 10 weeks ahead of her due date, Sensenig’s internal alarm blared when her brother’s wife mentioned she had carried similarly while expecting a daughter who died at age 4 of a mysterious disorder in 2002.
Morton was frustrated enough to cobble together a new clinic — and a new way of approaching these diseases.
“For a lot of these children and their families, the healthcare system was not only irrational, it was dysfunctional,” recalls Morton, in a twang that reveals his West Virginia upbringing.
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.
“It was very overwhelming to hear the diagnosis,” recalls Dawn Sensenig, 33, clothed in a long, homespun dress and white bonnet.
On a regimen of Rapamycin and the anticonvulsant drug Trileptal (oxcarbazepine) since infancy, Jessica hasn’t suffered a seizure in nearly two years.
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.