Unique procedure helping families save children from disease

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Carlos Boozer of the Utah Jazz now has three children, all free of a fatal genetic disease. What Boozer and his wife, CeCe, went through is the same, unique procedure some 30 to 50 Utah families have had to free their newborns of disabling disorders.

Unique procedure helping families save children from disease

For Carlos Boozer and his family, the decision to have the procedure done came with a lot of soul searching. "We put all our faith in God, and He opened up every door that we had to have opened for him (Carmani Boozer) to be successful with the procedure," he said.

As Carlos and CeCe investigated ways to save their son from sickle-cell anemia, they found a procedure that would not only reverse his disease, but give them more children born free of the fatal disorder.

In a Florida lab, 26 fertilized eggs from CeCe began to develop. Within a five-day window -- and that's all they have -- in vitro experts genetically screened the embryos. They were looking not only for those compatible for a later stem-cell transplant into Carmani Boozer, who already had the disease, but embryos that could be transferred back into CeCe free of the sickle-cell gene.

Carmani Boozer
Carmani Boozer

The Boozers got the best of both worlds last year. Healthy sickle-cell-free twins were born, and stem cells taken from their discarded umbilical cords were transplanted into Carmani, curing him of the disorder.

"We feel lucky. We feel very lucky to have all three of our children here and to be moving forward, and we just want other families to know that there is hope for them to have that too," CeCe said.

Upwards of 50 families have had just that, what is called "preimplantation genetic diagnosis screening." Utah parents who've made the choice have given birth to children free of diseases such as muscular dystrophy and cystic fibrosis.

"You need to remember that the people who are doing this have a personal stake -- so someone in their family has usually already suffered from this illness, so they know in a very personal way how devastating this can be," said Dr. Matthew Peterson, with the University of Utah's Reproductive Endocrinology and Infertility Center.

Taylor and Jill Ehats
Taylor and Jill Ehats

For family after family, the story is the same. The Ehats, who live in Lehi, have three children. All of them are free of the disease hemophilia.

Jill and Taylor Ehats' son was born without the disease, but they didn't want to take another chance. "The chance of passing it on 50-50 percent wasn't very good odds, and so since there was a procedure to prevent it, we were all for it," Jill said.

So, fertilized embryos were genetically diagnosed and screened, with only disease-free embryos returned to Jill to carry full term.

The University of Utah lab also screens for embryos that, while they won't develop the disease, are carriers of the gene. But the Ehats decided not to discard those carrier embryos.

Unique procedure helping families save children from disease

"Out of those three, two of them were carrier girls and one was unaffected. And we chose to put all three in and got our twin girls, and so wonderful," Jill said.

So the twins, themselves, are disease-free, but one is a carrier. She too may eventually have to make a decision just like her mother did. But Jill and Taylor say it was all worth it.

"I look at our 2-year-old and how busy and active and full of life he is, and I think how different his life would be if he did have hemophilia," Taylor said.

"There's no way to describe what a peace of mind it is," Jill said.

The in vitro procedure averages between $10,000 and $11,000, with an additional $1,000 to $5,000 for the preimplantation genetic screening. Most insurance companies do not reimburse.

E-mail: eyeates@ksl.com

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