Santorum Family's Trisomy 18 Saga Casts Spotlight On Sad Condition

Rick Santorum holds daughter Isabella on June 6 in Somerset, Pa. i i

Rick Santorum holds daughter Isabella on June 6 in Somerset, Pa. Gene J. Puskar/AP hide caption

itoggle caption Gene J. Puskar/AP
Rick Santorum holds daughter Isabella on June 6 in Somerset, Pa.

Rick Santorum holds daughter Isabella on June 6 in Somerset, Pa.

Gene J. Puskar/AP

Republican presidential hopeful Rick Santorum was back on the campaign trail Monday after improvements in the medical condition of his hospitalized young daughter Isabella, or "Bella."

Bella's pneumonia, linked to a severe genetic condition, forced the former U.S. senator from Pennsylvania to cancel campaign events in Florida over the weekend.

But with the 3-year-old's turn for the better, Santorum headed to the Midwest to resume campaigning, forgetting Florida, where Mitt Romney appeared headed for a big win Tuesday.

News of Bella Santorum's health problems led to rare news media and Internet interest generally in the congenital condition known as Trisomy 18, casting a spotlight on a fairly tragic condition. It is caused by a defect with one of her 23 pairs of chromosomes — the 18th, to be exact.

Like other chromosomal disorders, such as Down syndrome, the defect appears during conception. One parent's DNA gets copied twice, so the embryo ends up with three copies of the chromosome instead of the normal pair.

The result is a situation that usually far surpasses Down in severity. At 3 years old, Isabella has already outlived most children born with Trisomy 18. Many are lost to miscarriage, and the NIH estimates that half of infants born with the condition do not survive their first week.

More than 90 percent of children with Trisomy 18 have congenital heart defects, as well as physical abnormalities and severe cognitive impairments.

"They typically need caretakers to manage everything for them," says Lawrence Platt, a member of the Clinical Voluntary Faculty of the Department of Obstetrics and Gynecology at the David Geffen School of Medicine at UCLA. He says that, unfortunately, recurring pneumonia is par for the course.

Platt says the children "don't aspirate well," which means "they don't control their swallowing." Saliva gets into the lungs, causing pneumonia.

"It takes a very supportive family to care for these children," Platt says.

The latest reports are that Isabella is expected to be released from the hospital within a few days.

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