Eight years ago, when nurse practitioner Susan Davis walked into the exam room in the Washington University pediatric endocrinology clinic to assess Matthew Carothers’ thyroid problems, she suspected that the 5-year-old boy had other medical issues that needed to be addressed.
Carothers, short for his age and rail thin, had not gained any weight since he was 2 years old, and he had trouble speaking because of hearing loss.
Davis consulted with her colleagues Tina Stephen Stark, another nurse practitioner, and geneticist Kathy Grange, MD, a professor of pediatrics, and Grange arranged to see Carothers in the pediatric genetics clinic. After the appointment, Grange immediately called Stephens and Davis to tell them she thought Carothers had Johanson-Blizzard syndrome (JBS), an extremely rare congenital disorder that causes pancreatic problems, characteristic facial features, poor growth, cognitive disabilities, hearing loss and other issues.
Since the diagnosis, Carothers has gained 25 pounds. “Figuring out that he had this syndrome definitely improved his quality of life,” Grange said. “Patients with the syndrome have pancreatic insufficiency that requires intervention with enzymes so that nutrients can be absorbed by the body.”
Today, Carothers, 13, attends school, uses sign language to communicate and is fascinated by mechanics. He enjoys spending time with his older sisters and the animals on his family’s land in Clarence, Mo. He is hoping for a black kitten for his next birthday.
“He is a happy and cheerful young man who is a joy to work with,” Davis said.
Ann Johanson, MD, and her mentor, Robert Blizzard, MD, named the syndrome in a paper in 1971 after seeing three patients who all had the same symptoms.
Through the years, Grange wished she could discuss Carothers’ medical issues with Johanson. Unbeknownst to the geneticist, Johanson was living in a suburb of St. Louis and had many connections in the area. She was born in Webster Groves, Mo., earned a bachelor’s degree from Washington University and completed a residency in pediatrics at St. Louis Children’s Hospital. She spent most of her career on the faculty at the University of Virginia before returning to Webster Groves in 1999.
After learning recently that Johanson lived in the St. Louis area, Davis realized the two were connected on Facebook through a friend of a friend. Davis reached out to Johanson, who agreed to come to the School of Medicine earlier this month to meet Carothers and his parents, Marnie and Shane, and to discuss his case with Grange and Davis.
Meeting Johanson was a real pleasure, Grange said. “As a clinical geneticist, this was a very special opportunity and not something that I would normally get to do,” she said. “It was great to hear the story of how she saw three children with similar features, which led her to write the original publication, and to get her opinion about Matthew’s medical issues.”
Carothers’ mom, Marnie, said she and her family are thankful they got the chance to meet Johanson. “It was a very special day,” she said.