Dylan Chesney is just 2 years old but looks older due to his size. While he plays with plastic blocks in a consulting room, Dylan bonks his head hard on the table. It doesn't faze him, as high pain tolerance is characteristic of his condition, along with his size and other developmental issues.

Dylan, a rambunctious toddler, has Sotos-like syndrome. He's fortunate to have had the opportunity to walk in front of the camera linked to Dr. Bradley Schaefer. A medical geneticist at the University of Arkansas for Medical Sciences in Little Rock, Schaefer has seen more than 1,000 cases of Sotos and Sotos-like syndrome, possibly more than anyone in the world.  

Dylan falls into the category of Sotos-like, and that's good.  

"He's probably going to do better than people think," Schaefer tells parents Amanda and Scott Chesney, who came from Pratt to Wesley Medical Center for the consultation. "Their development over time usually gets better."  

Partnership gives access not otherwise available

Schaefer and Shobana Kubendran, genetic counselor at the KU School of Medicine-Wichita, see patients via telemedicine every other Thursday, a total of eight to 10 a month. For families in Wichita and throughout central and western Kansas, the genetic consultations - and Kubendran's practice in general - provide access to expertise that otherwise would require a visit to Kansas City or elsewhere.  

Kubendran is the only board-certified genetic counselor west of Topeka, and just one medical geneticist practices in Kansas, at KU Medical Center in Kansas City. Wichita had no genetic services for eight years prior to 2010. Telemedicine is quite literally a lifeline for families in need.  

Kubendran's practice began in 2010 when she moved to Wichita for her husband's psychiatric residency, and needed a job. Since there was no geneticist in Wichita to work with, she asked Schaefer, whom she had worked with at University of Arkansas for Medical Sciences, to set up a telegenetics clinic with her at KU School of Medicine-Wichita. Schaefer has extensive experience in telegenetics and together they established a clinic in which he evaluates patients in Wichita.  

At the KU School of Medicine-Wichita pediatrics clinic, she also works with Dr. Sid Sivamurthy, a pediatrician who has additional training in genetics. Together, they see patients and coordinate testing, with more complex cases going to Schaefer.  

Part of her role is to be a bridge to make sure the geneticist's time is used effectively, said Kubendran. She received her medical training in India and earned her masters in genetic counseling at the University of South Carolina.  

In a typical telegenetics session, Kubendran is in the room with the patient and family. She begins by explaining how the tele-link works (patient on the small screen, Schaefer on a bigger one). Then, Schaefer beams in, putting the young patients at ease, "You are so smart, dude," and "Look right at me, princess," he says during the evaluations. The parents come looking for answers and in some cases, reassurance that they're doing all they can.  

After the session with the geneticist is over, Kubendran spends some more time with the family providing genetic counseling. "When parents think of genetic test results, they think it's a yes or no conclusion," she said. "It's not. It's yes ... no ... maybe so."  

Information that changes families' lives

For Dylan's parents, the team could provide some certainty. "It was more of a relief than a shock," Amanda Chesney said after finding that Dylan had a Sotos-like syndrome. The diagnosis "was an affirmation that mom wasn't crazy," she said.  

Soon the telemedicine consulting will expand to Garden City's St. Catherine's Hospital. And through a partnership with the Kansas Department of Health and Environment, they will soon start managing patients with non-acute metabolic genetic conditions along with a metabolic geneticist from the University of Arkansas for Medical Sciences.  

The practice incorporates pediatric and prenatal genetic counseling. It provides a one-month rotation to medical students and pediatric residents and serves as an educational resource for doctors.  

"KU and Wesley have been very supportive of genetic services," Kubendran said of the practice, which is supported by a nurse and a clerk. "It's a vital service to the community and also important for teaching the next generation of physicians."  

Dr. Brian Pate, chairman of the medical school's Department of Pediatrics, was moved by a consultation he witnessed. It involved a couple that had experienced difficulty in conceiving. The wife, finally pregnant, had been advised to terminate the pregnancy because of possible defects. They followed up with Kubendran for closer evaluation of genetic test results, and chose to continue the pregnancy.  

By the time Pate saw the couple, they had a 6-month-old in tow.  

"It was remarkable to me because it was such a meaningful interaction for this family. They drove three hours to see this physician on a television screen," Pate said. "What happened for this family was fantastic, but it's a reminder of how we need to work constantly to improve services."