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PLEASANT GROVE — Danny and Emily Kooyman still have difficulty watching videos of their infant son who died in their arms three years ago.
Even though their twin daughters were only 1 year old at the time, one of the twins still cries even now, watching what happened to her brother.
The Kooymans' son died only 41 days after birth 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.
Rhizomelic chondrodysplasia punctata (RCDP) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability and respiratory problems.
Because of their severe health problems, most people RCDP survive only into childhood. It is rare for affected children to live past age 10.
Source: National Institutes of Health
“I can’t go through that again. I simply can’t," said Danny Kooyman, trying to hold back tears. "I can’t watch a son, or any child for that matter, slip away in that way.”
Like other couples, the Kooymans have now chosen an in vitro process, where eggs are removed from the mother and evaluated to make sure their next child growing in the womb is not born with such a genetic defect.
The process to identify which eggs are affected by disorders begins in fertility clinics that specialize in what is called Pre-implantation Genetic Diagnosis, or PGD. For the Kooymans, it’s the Utah Fertility Center in Pleasant Grove. The science is so polished now that a diagnosis probe, even for this extremely rare disease, was created in about six weeks.
“We create a probe or a very small piece of DNA that attaches to that abnormality; and then we tag that probe with a fluorescent marker, or some other marker, that allows us to see which cells are affected and which ones are not,” said medical director Russell Foulk.
In February, Emily Kooyman had nine eggs removed, each fertilized with a single injected sperm outside the womb. Her evaluation was revealing.
A lot of people are telling us to just do it the old fashioned way, but we cannot take the risk. I can't put my family through that again.
“We were able to biopsy those eggs, and surprisingly eight of those nine were unhealthy,” Foulk said. “So only one was good enough to replace back to the uterus.”
Three of those nine embryos had the specific PEX gene that causes the rare disorder that killed her son.
Unfortunately, the one healthy embryo returned to the uterus did not take, so the Kooymans will try again, going through the same procedure in about two months. Foulk said he’s optimistic the second go-around will prove successful.
Danny and Emily Kooyman are thankful for their healthy twins, but would simply like more children, including a healthy son.
“A lot of people are telling us to just do it the old fashioned way, but we cannot take the risk,” Danny Kooyman said. “I can’t put my family through that again. I mean losing a child is devastating.”
He knows there are those with strong religious persuasions who may question the ethics of Pre-implantation Genetic Diagnosis. But he is undeterred.
“Try walking in our shoes with a baby dying in your arms,” he said. “Maybe the critics are saying you’re playing God, but you know what, the way I see it, if that’s the case, God is the one who made these doctors know how to do this.”
“All we do, in essence, is help the natural process to maintain its normal order. This technique is similar where we’re helping nature create healthy children.”
Four years ago, former Utah Jazz star Carlos Boozer made national news when he and his wife went through a similar procedure. In that case, Pre-implantation Genetic Diagnosis not only gave them healthy twins born free of Sickle Cell Anemia, but stem cells from the umbilical cords were transplanted to their living son — curing him of the disease that he already had.
Certified fertility clinics like the Utah Center currently have diagnosis probes for 250 genes and that list is growing. All can cause devastating if not fatal birth abnormalities. The cost of the procedure ranges from $10,000 to $15,000 and includes all follow-up appointments.