Date Published: November 18, 2019
Years ago, a doctor suspected a genetic cause for Reagan Badon’s autism. But the boy’s symptoms did not fit neatly into any known syndrome, and genetic tests found nothing significant. The doctor, who specialized in genetics, did not hold out much hope of finding the gene that explained it all, recalls Cindy Badon, Reagan’s mother.
In 2016, the Badons came across a flier about SPARK, the largest study of autism. The family — Cindy and husband Patrick, and sons Reagan and Chance — joined. They each contributed DNA samples for analysis by SPARK researchers. “Genetic testing is expensive, and I thought maybe SPARK could find what doctors had not been able to [find] so far,” Cindy Badon says.
Still, she was surprised when SPARK contacted her about Reagan’s results in 2019. Scientists had found a change in one of Reagan’s genes, called MED13, that did not come from his parents. This kind of genetic change is called “de novo,” a Latin term meaning new. Reagan is among the first dozen or so people to be diagnosed worldwide with a rare change to the MED13 gene.
With “disbelief, shock, and excitement,” she relayed the news to her husband. “‘They found what they feel is the primary cause of Reagan’s autism,'” she told him.
“They can do that?” Patrick asked.
“Apparently so!” she replied.
Once they absorbed the news, the Badons began to wonder: Does MED13-related syndrome explain the eating and vision problems that Reagan experiences? “It’s a little unnerving sometimes because there’s not a lot of information out there about MED13 yet,” Cindy Badon says. “But the more I read, the more I feel like this is exactly the piece of the puzzle we’ve been missing.”
A Sense of Something Different, From the Start
Almost from Reagan’s birth, the Badons had a nagging suspicion that something was different about their youngest son. He would look away when his mother moved into his field of vision, and he did not respond to her voice. Relatives asked if he could hear or see. When he was just three months old, Cindy Badon shared her concerns with Reagan’s doctor.
“My son’s pediatrician listened to me, and she believed me,” Badon says. “She went with my gut feeling that something was wrong, instead of saying, ‘Let’s just wait and see.'” The doctor referred Reagan for therapies for developmental delays. About 15 months later, a team of doctors diagnosed him with autism spectrum disorder (ASD). “It was almost a relief to finally have someone else say what we thought we were seeing,” she recalls.
Autism was nothing new to her. As a teacher, she had taught students on the spectrum over the years and appreciated each one. She remembered her first such student. “He taught the class things that I couldn’t teach them and he taught me things,” she recalls. “I just look back at that and think what a gift I had as his teacher.”
But her classroom experience could not prepare her for everything about Reagan. For instance, Reagan has a keen eye for shapes and a fascination with letters and numbers. One day, when he was 2, he was playing with plastic toy letters. His mother left the room for a few minutes, and when she returned she saw the phrase “FBI WARNING” spelled out in front of Reagan. Shocked, she called her husband. “I said, ‘Someone has to be in our house!'” Reagan could not speak or read at that age. Who else could have spelled that phrase? But no one else was there.
Two weeks later, after reading labels on car seats and other items, they solved the mystery. “FBI WARNING” appears on a blue screen at the beginning of videos. Reagan “didn’t have the ability to speak, and he probably didn’t know what a movie was, so that was his way of telling us, ‘I want to watch a DVD.’ It was absolutely brilliant,” Badon says.
Reagan began speaking around age 4. His family and therapists used his love of letters and printed words to coax spoken words from him. Although many schools use picture schedules or lists with students who are on the spectrum, Reagan preferred to see words on his lists.
Reagan, who is now 13, has uneven skills. Although he could spell and read earlier than usual, he sometimes struggles to speak. He understands much more language than he can say. “He cannot always answer spoken questions, like ‘Who did you sit by at lunch today?’ He might tell me the name of the school instead,” Badon explains.
Reagan also has some puzzling physical symptoms. He needs to eat frequent, high-protein meals to maintain his energy level. If he doesn’t, he has anxiety symptoms, becomes tired, and has trouble paying attention. And he has trouble buttoning a shirt, but only if he is wearing it and has to look down to see it, Badon says.
Were those problems due to MED13-related syndrome? “A lot of the things that we now think are genetic were written off as being ‘just autism,'” Badon says.
The Search for People who have MED13 Changes
With advances in science, researchers have identified more genetic changes and connected them to conditions that previously went undiagnosed.
A few years ago, scientists interested in studying MED13 posted a notice on a gene matching website “that is like Craigslist, except it’s for rare disease geneticists,” says geneticist Gregory M. Cooper, Ph.D. That notice led researchers to a total of 13 people who have various changes in the MED13 gene, which is located on chromosome 17. “MED13 interacts with other genes to help regulate when genes get turned on and off,” explains Cooper, faculty investigator at the HudsonAlpha Institute for Biotechnology in Alabama.
In 2018, Cooper and the research team described a rare developmental disorder caused by changes to MED13.1 Of the 13 people they studied, all had intellectual disability or developmental delays, including speech delays. Many can understand more language than they can speak, just like Reagan. Eight have vision or eye problems, such as problems with their optic nerves or the way their eyes move. Seven had delays in developing motor skills, such as walking or holding a pencil. Five have ASD, four have chronic constipation, three have attention deficit hyperactivity disorder, and two have heart abnormalities.1
Many have certain facial characteristics that might be noticed by a geneticist: wide-set eyes, a wide mouth with a thin upper lip, and a broad nasal bridge (the part of the nose where glasses sit).
The genetic diagnosis has given the Badons a path to follow. It confirms their decision to stick with scientifically proven behavioral therapies for autism, rather than newer ones, Patrick Badon says. “The MED13 diagnosis helps confirm that most of these [newer] remedies don’t apply to our child.”
The Badons also plan to take Reagan to see doctors to check for heart, eye, and other problems that have been found in people who have a MED13 change. Unfortunately, little is known about MED13-related syndrome or its treatment. “There’s not a lot of studies on people for doctors to look at,” Cindy Badon says.
She wants to change that. So the Badons also joined Simons Searchlight, which researches rare genetic conditions. “Simons Searchlight is the next step in research for SPARK families who receive a genetic diagnosis,” explains Jennifer Tjernagel, senior project manager of Searchlight. “Once we know the genetic diagnosis, there are many other questions to ask, and Searchlight takes a deeper dive into getting those answers with families.” SPARK and Searchlight are both funded by the Simons Foundation.
The Badons hope research will illuminate their path with Reagan. “We would like to see research on what we can do to keep him healthy, happy, and help him deal with the potential health problems in his future,” Patrick Badon says.
Rocking an ASD Diagnosis
Having a genetic diagnosis has changed some concerns, but many things have stayed the same.
Reagan, for one, continues to “rock autism” with his winning personality, says Cindy Badon. She has always been open about Reagan’s autism diagnosis – and his many qualities. In fact, Reagan has a camouflage-patterned shirt that says, “Autism doesn’t camouflage my awesomeness.”
A seventh grader, he likes watching cooking shows, sometimes in German or Dutch, although he has not been taught those languages. He also is a fan of Peppa Pig, a cartoon series for preschoolers. That initially worried his mother, until she learned that Peppa Pig is a fad interest among teenagers.
Reagan enjoys playing an airplane simulator game on his brother’s old Wii game console; his father happens to be a pilot. Reagan also likes planning plane trips he hopes to take one day. Each trip would begin at his favorite gate, Gate 8 at Dallas Love Field Airport, near the family home in Texas. When asked where he would like to travel next, Reagan says he would like to go back to Hawaii and see his friend, Kimo, who teaches children with autism how to surf.
Reagan also keeps his family vigilant about computer security. If they are not careful, he will memorize their computer passwords as they type them, Cindy Badon says. And if he really wants something, he will argue with his mother, something his older brother might have gotten into trouble for doing. But, grateful that he is speaking, Badon just turns away and smiles. “It’s a gift,” she says.
- Snijders Blok L. et al. Hum. Genet. 137, 375-388 (2018) PubMed
Photo provided by Cindy Badon.