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Santorums shine light on 'hidden' chromosomal disorder

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By Chris Togneri and Salena Zito,
Monday, April 9, 2012
 

Diagnosed in the womb with an often fatal chromosomal defect, the little girl known as Bella has defied the odds.

Isabella Santorum, daughter of Republican presidential candidate Rick Santorum, has Trisomy 18, a rare genetic disorder that delays development and can cause heart defects and kidney problems. Isabella was hospitalized on Friday, the second time during Santorum's campaign.

Still, she is 3 years old — and most babies with the defect do not live to their first birthday, said Victoria Miller, founder and executive director of the Washington-based Trisomy 18 Foundation. About half of babies with Trisomy 18 are stillborn; of those who live, 90 percent die in the first year.

"Children that make it as far as Bella have been blessed with a unique roll of the genetic dice," Miller said on Saturday from her home in northern Virginia. "There is something unique about children who survive. What makes them unique, we're not sure. Through research, we're trying to understand how those that survive are genetically different."

Miller said she's never met the Santorums but praised them for shedding light on a "hidden" disorder.

"These children disappear from our lives so quickly that for most people it's easy to forget about them," Miller said. "Their willingness to be open about Bella's condition has shined a very bright light on what has been a hidden disorder."

Santorum's campaign staff did not say why or where Isabella was hospitalized, but campaign adviser John Brabender told the Tribune-Review that the child's condition "had stabilized." On Saturday, Santorum's staff said he would extend his Easter break until Tuesday "so that he and (wife) Karen can remain in the hospital with their daughter Bella," communications director Hogan Gidley said in a email statement. "The entire Santorum family is incredibly grateful for the outpouring of prayers and support."

In January, Santorum canceled campaign events in Florida after admitting Isabella, who had pneumonia, to Children's Hospital of Philadelphia.

Trisomy 18 — also known as Edwards syndrome — affects about one of every 2,000 to 3,000 live births, Miller said.

One woman with Trisomy 18 has lived into her 30s, Miller said. A few others have made it to their 20s, she said. However, because of the significant developmental delays associated with Trisomy 18, survivors cannot live independently and require assisted care.

"For families whose children do survive, the fear of what illness may take them looms over their heads," Miller said. "Children who get past a year, at some point parents learn to not live their days waiting for their child to die. Instead, they celebrate the lives they do have."

In a January 2011 interview with the Trib, Santorum said that Isabella's smile brightens even the toughest of days.

"She is our miracle," Santorum said. "She has brought nothing but joy since she entered our lives. All of us are better people, have better lives, because of her."

Santorum, 53, and his wife of 21 years, Karen, have seven children. In 1996, their son, Gabriel, was born prematurely and died shortly after birth.

Kim and Bill Sarniak of Peters have closely followed Isabella's health since her birth.

On Nov. 18, 2006, they welcomed their son, Christian William Sarniak, into the world, even though doctors had detected early in the pregnancy that he had Trisomy 18 and believed the boy would be stillborn.

"They prepared me," Kim Sarniak said. "They told us he was not coming home. We didn't even bring a car seat with us to the hospital. I told them that I just wanted to hold him once, while he was still alive."

Four days later, Christian continued to defy the odds, and mom and baby were released from the hospital.

He lived for 105 days.

The Sarniaks cherished every moment, Kim Sarniak said, thanks in part to advice from one of her doctors.

"He said, 'You are going to bring this child home, and you can wake up every day and say, "This is the day I'm going to lose my son," or you can say, "This is another day I'm going to get to enjoy my son." What would you rather do?' " Sarniak said.

"It was the hardest thing we ever went through, but it was a blessing in disguise because we never took a single day with him for granted," she said.

Miller gave birth to a baby boy named Isaac 11 years ago. He, too, had Trisomy 18, and died after 11 days.

In her grief, Miller reached out to other parents of Trisomy 18 babies and built a healthy online community where people could seek and give support and advice. The Trisomy 18 Foundation has connected 50,000 families worldwide, she said.

With Isabella in the hospital, Miller and Sarniak had messages for the Santorums.

"Every other Trisomy 18 parent out there, whether their child is living or has sadly passed on, has Bella in their hearts this weekend," Miller said. "The Santorums are not alone."

"Continue to have faith. And hold on to every single moment with her," Sarniak added.

 

 
 


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