Stanford researchers help Clovis parents find answers to son's delayed development

FRESNO, Calif. (KFSN) -- 4-year-old Jashan Gill wasn't always a smiling little boy.[br /][br /]After he was born, his parents Manpreet and Harvey Gill, noticed Jashan didn't really take to milk.[br /] [br /]"He wasn't gaining enough weight and his gross motor, his speech, everything was delayed," Manpreet said.[br /][br /]Doctors did endless blood tests. The Gills brought him to a neurologist.[br /][br /]"He wasn't crawling. He wasn't babbling," Harvey said. "He wasn't doing anything to show he was developing as other kids at his age."[br /][br /]Doctors didn't know why.[br /][br /]"It was difficult because you want your kid to hit all those milestones," Manpreet said.[br /][br /]The family's diagnostic odyssey finally brought them to Palo Alto. They applied to Stanford's Center For Undiagnosed Diseases. Jon Bernstein is a Genetics Professor at Lucile Packard Children's Hospital.[br /][br /]"The mission of our center is really to develop new and more efficient methods for recognizing rare diseases that may be hard to find," Bernstein said.[br /][br /]Stanford freshman Charlie Curnin played a big role in the breakthrough. His computer program analyzed mutations in genomes.[br /][br /]"I developed a tool that will search a patient's genome for this kind of genetic abnormality that was found to be causing this patient's disease," Curnin said.[br /][br /]Bernstein noted a deletion in the area of Jashan's number 6 chromosome.[br /][br /]"The area where there's less DNA sequence generated is the area where the patient only has one of the two copies that most people would have."[br /][br /]In 2017, Manpreet and Harvey finally had their answer.[br /][br /]"It was a big relief because we had no idea what was going on," Harvey said.[br /][br /]Bernstein was able to attach a name to their son's condition.[br /][br /]"Some people refer to it by the name of the gene that's involved. It's called ARID1B," he said. "Also, it's part of a family of conditions that are referred to as Coffin-Siris Syndrome."]][br /][br /]As part of his treatment plan, Jashan has been undergoing weekly speech therapy and occupational therapy.[br /][br /]Mom has noticed a big difference.[br /][br /]"His eating has improved a little bit. His speech is mobilizing more," Manpreet said. "He's able to communicate with us with gestures or like sign language."[br /][br /]Jashan's Global Development Delay is rare. "Less than 1 in 10,000," Bernstein said.[br /][br /]"There's about 200 people nationwide that have been diagnosed so far with the same Coffin-Siris Syndrome," Harvey said.[br /][br /]The condition has no cure, but the Gills now know how best to help their son develop.[br /][br /]"I think the biggest change in how he's treated is really the family has piece of mind and confidence they're treating him for the right thing," Bernstein said.[br /][br /]Jashan's expressive eyes let his parents know he's enjoying himself.[br /][br /]"It makes us happy and makes him happy," Manpreet said.[br /][br /]The Gills have never met Charlie, the young computer science whiz who helped make the diagnosis.[br /][br /]"I am really happy that I could provide any type of help to them whatsoever," Curnin said.[br /][br /]Now curious little Jashan is preparing for kindergarten in the fall.[br /][br /]"It's like, okay yes, we know he's happy finally," Harvey said. "We know he's doing something that he likes and it's actually helping him out a lot."