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After tragedy, couple uses genetic screening to have healthy babies

Published: Tuesday, Sept. 2 2014 5:15 p.m. MDT

Emily and Danny Kooyman used pre-implantation genetic diagnosis to help make sure the babies she carried didn't inherit RCPD, a rare genetic disorder that causes numerous life-threatening disorders, including a shortening of the bones closest to the trunk of the body. These twins, a boy and a girl, were born healthy.

Ken Fall, Deseret News

RIVERTON — Five years ago, Danny and Emily Kooyman's son died in their arms only 41 days after birth. They knew if they had more children the same thing could happen again.

But this summer, a miracle in its own right unfolded. Medical science turned things around for the Kooyman family.

"The last time I held a son of mine, before this, was one of the worst moments of my life," Danny Kooyman said.

It was an emotional nightmare back then when Danny and Emily Kooyman watched their son slip away in their arms from an extremely rare disease called rhizomelic chondrodysplasia punctata or RCDP. Victims have numerous life-threatening disorders, including a shortening of the bones closest to the trunk of the body, cataracts, stiff joints and severe learning difficulties.

Both carry the gene, a rare event in itself, that causes the defect. Knowing the high risk, they said they could not go through that again.

But on June 13, the Riverton couple was back at University Hospital with an ending that triggered a very different emotion.

"We had the same exact room five years later, the same spot, the same area, but now I experienced incredible joy,” he said, getting very emotional. “I really hit that deja vu moment when I sat there with a healthy boy and a girl. Everything was perfect."

It was a different path this time for the Kooymans because they favored the odds by using what is called pre-implantation genetic diagnosis.

Inside a lab at the Utah Fertility Center, Dr. Russell Foulk and his colleagues followed an in vitro procedure that fertilizes each egg with a single sperm outside the womb. After biopsies screen out eggs with genetic or chromosomal abnormalities, at least two healthy eggs are returned to the mother.

Controversial?

"I don't think it's a function of playing God," Foulk said. "I think it's a function of using the tools God has given us. This technology is phenomenal in helping patients avoid that tragedy and have parents avoid that loss."

Danny Kooyman echoed the same feelings.

"We had no choice," he said. "If we were going to have more kids we couldn't do it the other way. We had a 25 percent chance every time we had a child, if we could, that it would have the same problem. I don't see that's playing God. I think God is the one, if you want to look at it that way, who helped doctors know how to do this."

A single healthy egg didn't take the first time, and no healthy eggs were found the second time. After a miscarriage on the third attempt, the Kooymans decided financially they could not continue. But then Foulk said something they thought they would never hear.

Kooyman said Foulk told them, "He would take care of it. He will do it and it won't cost us anything to do it one last time. And that's incredible. Who does that these days?"

"They've gone through such heartache," Foulk said. "Those are the ones that really pull on my heartstrings. We can beat this disease, I told them. It's just a matter of persistence and perseverance."

"I felt so much gratitude and so much love,” Emily Kooyman said after the twins were born. “I was so thankful they were here and all three of us were healthy. It really is a miracle to us."

Healthy twins, a boy and a girl, now join their older, healthy twin sisters at home. For Danny and Emily Kooyman, their family is now complete.

Six years ago former Utah Jazz star Carlos Boozer made national news when he and his wife went through a similar procedure. But in their case, pre-implantation diagnosis not only gave them healthy twins born free of sickle cell anemia, but stem cells from the umbilical cords were also transplanted to their living son — curing him of the disease he already had.

Email: eyeates@deseretnews.com

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