When Kelsie became pregnant in November 2020, she called the Maternal-Fetal Medicine team at Vanderbilt University Medical Center and made an appointment with Brighton Goodhue, MS, LCGC, a genetic counselor. Kelsie and her husband, Michael, have the genetic condition achondroplasia, the most common form of dwarfism, and knew their baby had a 1 in 4 chance of inheriting two non-working copies of the gene associated with achondroplasia. (Kelsie and James chose not to include their last name)
“When two individuals both have achondroplasia, every pregnancy has a 25% chance to not have the condition and have typical stature, a 50% chance to have the condition achondroplasia, and a 25% chance to have a more severe and lethal form of the condition,” Goodhue said.
Goodhue set Kelsie up for a chorionic villus sampling (CVS) in the first trimester to learn their baby’s genetic results, but the placenta was in a tricky location and the doctor was unable to get a sample. Kelsie was then scheduled for a second-trimester amniocentesis, but a snowstorm delayed the procedure and, once it was rescheduled, the family then waited two weeks for results. Kelsie was 18 weeks along when Goodhue called to tell her their baby had the lethal form of achondroplasia.
“I was familiar with the universal cry mothers make when they learn their child will pass away,” said Kelsie, who is a pediatric nurse practitioner in oncology. “But in this case, the sound was coming from me.”
Kelsie lost the baby, who was named Patrick James after her father and Michael’s, in March 2021. They considered in vitro fertilization so embryos could be tested before implantation, but due to Kelsie’s anatomy, it would require abdominal surgery to retrieve her eggs. They decided to try one more time on their own.
“I got pregnant in March 2022, the exact same week that I’d lost Patrick a year earlier. Brighton was one of the first people I contacted. She was ecstatic for us and was able to book our CVS immediately,” Kelsie said. “This time, the procedure was successful. By the end of my first trimester, I knew I was going to have another baby boy, but this time, one we would be able to take home. Brighton was the one to call us with the news. She later told me she’d bought a bottle of Champagne after my CVS because she had this feeling that this pregnancy would be OK.”
In November 2022, Kelsie gave birth to Henry, who is 1 year old and the light of their lives.
“We wouldn’t have been able to get through our delivery day without Brighton,” Kelsie said. “My short stature meant I was at high risk for pregnancy and delivery complications. She recognized the stress and anxiety I was under and offered constant comfort and guidance. Her presence was a reassuring anchor through our whole turbulent journey.”
Kelsie’s gratitude moved her to nominate Goodhue for a Heart of Genetic Counseling award. Part of the National Society of Genetic Counselors’ 42nd annual conference in Chicago, the Heart of Genetic Counseling award ceremony honored 16 patient-nominated counselors.
“Brighton has always been able to forge special bonds with her patients, making them feel heard and prioritized, which is often what they so desperately need at a difficult time in their life,” said Arianna Guillard, MGC, CGC, associate in Obstetrics and Gynecology, who helped facilitate the nomination. “This patient, specifically, was able to lean on Brighton in a time of tragedy and celebrate with Brighton in a time of joy, and that, I feel, is what makes a truly incredible provider.”
According to Martha Dudek, MS, LCGC, program director of the Vanderbilt University School of Medicine Master of Genetic Counseling, Goodhue completed one year of clinical rotations at Vanderbilt as part of her training in 2018-19. The 21-month professional degree program graduated its first class of students in 2021: Goodhue was honored by the inaugural class as an outstanding supervisor.
“Her commitment to excellence was as evident then as it is now in her role as a clinical supervisor for the Vanderbilt Master of Genetic Counseling degree program, in which she mentors graduate students,” Dudek said.
Goodhue said Kelsie and her family became very special to her throughout their journey.
“I was early in my career when I first met them and truly feel as though they helped shape who I am as a genetic counselor,” Goodhue said. “I was honored to have them nominate me for this award and cannot wait to watch their little one grow!”
