Five-year-old Clark LeBlanc’s favorite things are Elmo, rhythmic music and toys with lights. He also likes it when his younger sisters interact with him and when he hears them playing and making sounds – even though he cannot join them.

Clark cannot walk or talk, is visually impaired and is nourished through a feeding tube. He also experiences painful muscle contractions (dystonia), has frequent seizures, which can range from zero to 100 in a single day, and is periodically hospitalized.

As an infant in 2018, he was diagnosed with a GABRB2 gene mutation, which is “a rare neurological condition that causes seizures” that are often resistant to medication, as well as movement disorders and a range of disabilities, according to curegabrb2.org, a website organized by Clark’s father, Justin LeBlanc of Norwich.

Their family’s goal through their website and Facebook and Twitter pages is to raise awareness about this genetic disorder and increase funding from individuals, businesses and nonprofit organizations for research to find a cure for this condition, Justin said during a telephone interview.

GABRB2 is a mutation in specific brain receptor, said Clark’s neurologist, Dr. Mark Schomer at Connecticut Children’s Medical Center in Hartford during a telephone interview.

“So GABA (the receptor) is the main inhibitory neurotransmitter in the brain, meaning it kind of slows down other activity. So theoretically, if you have less functioning of the GABA receptor and you have less inhibition, that makes people prone to various neurologic conditions, such as epilepsy, and other movement disorders. There are other conditions associated with the same genetic change, things like schizophrenia, bipolar disorder and autism and such.

“But as a child neurologist, we’re most familiar with it causing epilepsy movement disorders and developmental delays for children.”

To keep Clark safe, especially since the pandemic began, the family sometimes foregoes attending holiday events and get-togethers, said Justin, explaining if Clark contracts pneumonia, all his other health issues become much worse. This June, both Clark and his 4-year-old sister were hospitalized with pneumonia at the same time. She recovered quickly; however, “it hit Clark really hard,” he said.

Even though Clark is eligible for in-home nursing care through Aveanna Healthcare, which is paid for through Medicaid, Justin said his son has not had an in-home nurse for several months, because of a nursing shortage.

Admitting efforts to help Clark “some days seem futile,” he said his family prays a lot. When his son’s health challenges become severe, they “go back to the drawing board” to analyze “what we might have missed, what maybe worked before at some time.”

Justin said they feel good that they have been able to do “some things to really make his life” more comfortable, even though they “have a realistic sense of what we can actually accomplish.”

Even though he doesn’t want Clark to have this illness, Justin said, “It’s really been a great experience for everybody.”

It has changed the life of his family “completely,” as well as everyone around them who tries to help and shows them compassion and love, he said. “It’s life. Everybody has struggles. I think we’ve been able mostly through prayer to kind of make sense of sometimes why these things happen and see the love that can come from these kinds of things.”

Clark’s mother, Rose Horan, said, “Our older daughter understands that Clark can’t walk and uses a wheelchair. She loves pushing him. If he knocks an object off of his tray, she will often say, ‘Clark you are such a silly boy,’ as she is picking it up. She knows that he can’t talk like her and will often say, ‘Clark talks with his heart.’

“Since she is 14 months younger, she has been playing with medical equipment since before she can remember. Her favorite toy for a long time was a stethoscope.

“Our younger daughter runs to the nearest adult when his pulse ox (oximeter) beeps or his feed ends,” and she pronounces “C,” the first letter of Clark’s name “and will run back and forth until the beeping stops. She gets very excited when he is sitting in his chair at her level and will often share her toys with him or try and steal his. She will try to share her water bottle and show him Mickey Mouse.

“Even though they are far too young to fully understand everything that is Clark, they love and accept him as he is and I hope that never changes,” she said.

Justin feels they have made progress towards finding a cure for GABRB2, because of the approximately 100 families they have connected with via their private Facebook page, who have children with different GABRB2 variants and share their medical information and stem cells.

Worldwide, there are at least 400 individuals with this genetic disorder, he said. Reasons for imprecise data include the fact that genetic testing is expensive for some people; others could have no symptoms or mild signs.

GABRB2 probably went unrecognized until recently, because of several factors, said Schomer, “the largest being that up until the last 10 to 15 years, we did not do significant amounts of genetic testing on patients and so kids who had what we now know to be GABA receptor mutation, very well might have been called something else previously, most typically called Lennox-Gastaut syndrome. In our field, there are these names that we give to kind of define people who have different types of epilepsy with severe developmental problems. And it’s only been recently that we’ve been able to put a specific genetic name to lots of those conditions.”

The Facebook group offers members support and prayers, which help families realize they’re not alone, Justin said. Since they founded their private Facebook page in 2018, 3 individuals, ages 2, 4 and 21, have died from their group.

Currently, this GABRB2 Gene Mutation Support Group on Facebook is involved with three projects.

One is Rarebase, a biotech company which is entirely funded by this group. The second project is through the Epilepsy Center at the University of Southern Denmark, which is studying GABA-A disorders, including GABRB2, and looking at the differences between the variants.

“We provided them a lot of patient data,” he said.

Another project looming

The other project involves Dr. Tingwei Mu, a researcher at Case Western Reserve University in Cleveland, Ohio. His “work is centered around finding a way to repair and rescue the function of the GABRB2 protein, which can be negatively impacted by the gene mutation,” Justin said.

He is hopeful that much more will be known within the next six to 12 months about Clark’s genetic disorder, since many more scientific studies have occurred.

When their son was diagnosed in 2018, only “one very small study” had been done. “So we really didn’t know much of anything,” he said.

“The work being done right now on these projects is hopefully going to look at specifically how this disease affects these certain kids and hopefully group some of them together, so when doctors and neurologists meet these kids, they have more of an idea” about which medication, treatment and procedure would be appropriate for their child’s variant.

Families of children with this disorder “really appreciate” what they’re “trying to accomplish through the projects and the collaborations and what we’ve been able to fund so far,” Justin said. “It kind of gives people a little bit of hope that there might be more understanding and more options in the future.”

“It’s good to have a community that understands that you’re kind of in the same struggle rather than just kind of floating out there in the abyss by yourself.”

“I just want to emphasize just how useful I think it is when people create these groups and really help bring their kids’ problems to the forefront because it kind of lights a fire under the researchers and the clinician(s) taking care of them to start coming up with ways to treat kind of specific individuals, rather than just these large lump categories that we used to use,” Schomer said.

To donate or learn more about this genetic disorder, go to curegabrb2.org, Facebook.com/Gabrb2, or Twitter.com/CGabrb2. Or, contact Justin LeBlanc directly via email at taylor8919@yahoo.com or by telephone at (860) 884-3280.

Jan Tormay, a longtime Norwich resident, now lives in Westerly.