Genetic screening allowed one couple to fulfill their dream of family
Coming from a big family, Rita knew from a young age that she wanted to have several children of her own. It seemed only fitting that Rita’s profession as a vet tech lent itself to caretaking. She enjoyed helping animals of all kinds.
Through her job, she became friends with Tom, a colleague working in the kennel facility who planned to become a veterinarian. Over time, the friendship turned romantic, and the two married during Tom’s junior year.
Tom had also always wanted children, and by the time he graduated in 2004, Rita was eight months pregnant with their first child. The next month, Audrey was born.
They doted on and adored their baby girl, and after maternity leave, Rita placed Audrey in daycare. As Audrey neared four months of age, the daycare professionals noticed she wasn’t developing strength in her limbs and neck.
Rita made a doctor appointment, but later that night Audrey was rushed to the local children’s hospital after she crashed. The doctors performed tests, and six weeks later test results confirmed a devastating diagnosis — Audrey had Spinal Muscular Atrophy.
Rita took a leave from work to stay home with Audrey. The next six months were a blur. Rita and Tom knew Audrey could not survive, and the pain of having finite time with her was unbearable. On her 10-month birthday in April 2005, Audrey passed away.
Doctors told Rita and Tom that they were both carriers for SMA. There was a one in four chance that they would have another baby with SMA. Although no one in either one of their families had SMA, the doctor explained that there is a one in 40 chance that anyone can be a carrier.
Devastated by the diagnosis, Rita and Tom let go of their parenting dreams.
Three years later, Rita’s mother read about preimplantation genetic testing PGT-M, previously known as preimplantation genetic diagnosis (PGD) in a Good Housekeeping article.
Preimplantation genetic testing is a technique used to identify genetic defects in embryos created through in vitro fertilization (IVF) before pregnancy. PGT-M refers specifically to when one or both genetic parents has a known genetic abnormality and testing is performed on an embryo to determine if it also carries a genetic abnormality.
In the article, a couple did PGT-M to genetically screen embryos for SMA prior to treatment. Because only unaffected embryos are transferred to the uterus, the couple could pursue fertility treatment knowing they would have a baby without SMA.
PGD and preimplantation genetic screening are presently the only options available for avoiding the high risk of having a child affected with a genetic disease prior to an embryo transfer into the uterus.
After Rita and Tom’s heartbreak, the article gave them hope.
They began researching PGT-M, but found that no local fertility centers offered the treatment option. The nearest center was three hours away from their Lafayette, IN home at Fertility Centers of Illinois.
Nervous but excited, Rita and Tom made an appointment. She shared her determination and optimism with her husband.
“If we can stick it out as a couple through the hardship of losing Audrey, we can make it through anything to have healthy children,” she says.
After meeting with Dr. Brian Kaplan, their hope of parenthood was renewed. After doing a successful egg retrieval of 25 eggs and fertilizing them with Tom’s sperm, they had six healthy embryos for treatment.
Dr. Kaplan transferred two embryos to Rita’s uterus. Two weeks later, Rita and Tom learned she was pregnant. Nine months later, Olivia was born. Olivia was not a carrier for SMA, and unaffected by the SMA.
Basking in the joy of parenthood, they cherished every moment with little Olivia. But they also wanted give Olivia a brother or sister, and decided to use the remaining healthy embryos to grow their family.
Once again, Dr. Kaplan transferred two embryos. Unfortunately, this did not result in a pregnancy. Disappointed, Rita and Tom decided to step away from treatment for awhile. But in 2013, they decided to try again. They saw this as their final chance.
After the cycle, they were ecstatic to learn they were pregnant. As the weeks passed, Rita watched her numbers climb at the doctor’s office. Then she received more exciting news.
“You’re having twins.”
Testing revealed that the twins were not affected by SMA, but were both carriers, just like Rita and Tom.
Maggie and Sebastian were born in February 2. The healthy family of five is happy, and now feels complete.
Rita and Tom credit Dr. Kaplan and the team at FCI for compassionate, accommodating, and personalized care.
“Everyone was so sweet and caring,” Rita explains. “That made our experience so much easier.”
They are also hopeful that when Maggie and Sebastian are old enough to have children of their own, there will be a cure for SMA. With current research and medicinal capabilities, SMA is considered one of the neuromuscular diseases most likely to find a cure in the next five years.
Rita and Tom found support in the organization Families of SMA, and have also shared their experiences and support with other families who have walked a similar journey.
“Without this option, we would not have had any more children,” Rita shares. “We are thankful every day to have them in our lives. For families who are affected by SMA, know that there are options available to you and you are not alone. Don’t give up. All of the hard work is worth it.”
