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SALT LAKE CITY — It is called the "loneliest" diagnosis because few have heard of the birth defect that kills hundreds of babies each year. Now, Utah families and researchers at the University of Utah are teaming up to find answers.
At Gabrielle Kardon's lab in the U.'s Eccles Institute of Human Genetics, little eyes are peering into the future through some high-powered microscopes.
Kardon asked the kids, "You can see it?" And when they nod yes, she makes sure to inquire, "Is it in focus?"
Here, researchers like Kardon, who has a Ph.D. in biology, focus on learning how the muscles in our bodies develop and regenerate.
On this summer day, Kardon is sharing the research her lab has been doing into ways to better treat a deadly birth defect that almost claimed the lives of some of her young visitors.
Congenital diaphragmatic hernia or CDH is a condition that leaves a hole in a developing infant's diaphragm. This July, CDH families toured Kardon's lab to get a close-up look at defective diaphragms and the mutations that can trigger the defect.
Once the defect is spotted on an ultrasound, parents can only hope for the best outcome after the baby is born.
"And there's only a 50 percent chance of survival," said mom Hope Clyde as she chokes back tears. "It just changes your life."
Clyde's son, Tyler, now 15, is a CDH survivor. He's had three surgeries to close the hole in his diaphragm. One procedure took place just a year ago.
"It sucked, it was no fun at all," Tyler Clyde said.
After all the pain and heartbreak, the Clydes don't want to see other kids and their families suffer from this condition.
"Our goal is to help the scientists find out why this happens," Hope Clyde said.
Part of that effort is working with Cherubs, a research, awareness and support organization for CDH families.
"I don't do it for me. I do it for them and for their memory so that the world won't forget them," said Josh Hensley. He and his wife lost two baby girls to CDH in just two years. At the time, they had never heard of the birth defect.
But CDH is not a rare condition. Over 16,000 babies are born with the defect in the U.S. each year. Half, or around 8,000, will die, most before their first birthday. In Utah, Primary Children's Hospital cares for 20 CDH babies a year at a cost of over $1 million per child in medical care and surgeries.
"We survived it, we made it through, but nobody else should have to go through this," Hensley said.
Now the parents of two healthy girls, the Hensleys know more genetic research is needed. "We have a bunch of little pieces, but it's a very, very large puzzle," Hensley said.
"With Tyler, he can participate in these studies, and it could be a very vital part of the future of CDH research," Hope Clyde said.
This summer at the Cherub's International Conference in Salt Lake City, Tyler and other survivors gave blood and saliva samples. Scientists will use these DNA fingerprints to try and crack the CDH mystery.
"Can we make the diaphragm grow better? Can we somehow help the herniation? These are long-term goals," Kardon said.
Even though they can't conduct the tough research in the lab, Hope Clyde said she and other CDH parents are "trying to change things" for the better.
Right now, Kardon's lab is developing therapies to treat babies with CDH while they are still in the womb. We will keep you updated on the research. Email: firstname.lastname@example.org