Genetic testing and IVF helped a Colorado couple have a healthy son
Noah’s birth had been perfect. The infant was born looking healthy and hearty, and Sarah and Chris Wilkerson, his proud parents, spent many happy hours cradling their newborn son.
After a few days at the hospital, the couple took Noah home to begin life as a new family. Hours later, however, their baby suddenly stopped breathing. Noah was rushed to the hospital, where ER docs tried for hours to revive him, but to no avail. No one could tell Sarah and Chris why their newborn son had died.
The next morning, answers finally came with the results of the newborn screening test. Noah had MCADD, a rare inherited metabolic disorder. His disease had been treatable, but doctors’ awareness of it had come too late.
A few days after Noah’s death, the Wilkersons got a call from the Inherited Metabolic Diseases Clinic at Children’s Hospital. They had received a copy of Noah’s infant testing results, and wanted to help. “They were wonderful,” says Sarah. “They worked tirelessly to help us understand what had happened and to provide support.”
Sarah and Chris learned that they both were carriers of the MCADD disorder, and their chances of having another MCADD baby was 25 percent, while the chances of having a carrier baby was 50 percent. There was only a one-in-four chance of having a child free of MCADD.
“We desperately wanted more children,” says Sarah. The Wilkerson’s choice was either to take their chances, or to try something called pre-implantation genetic diagnosis (PGD). With PGD, they would go through in vitro fertilization, and the embryos would be tested before implantation to determine if they had MCADD.
But, as Sarah noted, “It’s a very expensive way to have babies.”
The cost for going through IVF treatment and the genetic testing would cost the couple approximately $25,000. “We were very fortunate,” says Sarah. “Several family friends decided they wanted to help. They organized a fund raiser and raised every penny we needed to do PGD and IVF.”
After considering various fertility experts, Chris and Sarah chose to work with Dr. Shona Murray at University of Colorado Advanced Reproductive Medicine in Colorado Springs. “We looked at various doctors, but being a university hospital, they had the expertise we wanted.”
“Since Chris and Sarah were both carriers of MCADD, they had a 1 in 4 chance of having another child with the disease,” says Dr. Murray. “PGD was a good option for them because it would allow to us check the genetic makeup of each embryo and screen for the disease. Only non-effected embryos would be transferred. This meant that Chris and Sarah could go into a pregnancy without the fear that they will lose another child to this condition.”
PGD is a valuable tool for any family affected by genetic disorders, says Dr. Murray. “For those couples who face inherited diseases like Tay-Sachs, galactosemia, Duchenne muscular dystrophy or cystic fibrosis, it can provide hope of a healthy child.”
To begin the process, Sarah had to go through the process of in vitro fertilization (IVF). After going through a regimen of several medications, her eggs were harvested and then fertilized with Chris’ sperm in the lab. After the embryos grew up to at least eight cells, a lab specialist called an embryologist took out one cell from each embryo for analysis.
After undergoing IVF, Sarah and Chris had eight embryos for possible implantation. “We had eight potential children,” says Sarah. “I set up eight little candles on my dresser, and visualized each of their potential lives. It was amazing.”
But one by one, Sarah had to blow out the candles. Several embryos died in a few days, leaving only four to undergo genetic screening. By implantation day, only two remained. The screening revealed that neither had the disease but were potential carriers. The couple chose to implant both embryos, and waited for results.
Two weeks later, Sarah got the news she had been dreaming of. “We were so excited to learn that I was pregnant,” she says. Later, using ultrasound, the doctor located only one fetus, but the couple’s unborn son was bursting with life.
“We found out at 16 weeks through amniocenteses that he was not a carrier of MCADD, and was free of the disease,” says Sarah. “He will never have to worry about what we have gone through.”
On October 14, 2010, little Aaron was born. Today, the couple enjoys watching their son crawl, walk and babble. But they haven’t forgotten Noah or the doctors who helped them at University of Colorado. They participate in fundraisers for the Inherited Metabolic Diseases Clinic at Children’s Hospital, and hope that other families facing inherited diseases know that they can hope for a healthy child.