Lifewatch: Pre-implantation genetic diagnosis screening - WECT TV6-WECT.com:News, weather & sports Wilmington, NC

12.24.08

Lifewatch: Pre-implantation genetic diagnosis screening

Reported by Claire Hosmann - email
Posted by Debra Worley - email

(WECT) - All parents want their babies to be born healthy, but unfortunately, millions of children enter the world with genetic diseases that can sometimes be fatal.

There's a unique procedure that about 30-50 Utah families have done to free their newborns of disabling disorders, including Utah Jazz Basketball player Carl Boozer.

"We put all our faith in God and he opened up every door that we had to have opened for him to be successful with the procedure," said Boozer.

Carl 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, in vitro experts genetically screened the embryos. 

The experts are not only looking for embryos 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.

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," said CeCe.

An upwards of 50 families have had what is called "pre-implantation 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.

The in vitro procedure averages between $10-11 thousand with an additional $1,000-5,000 for the pre-implantation genetic screening.

Most insurance companies do not reimburse.

 

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