New research could help local child with rare disorder

Clark, 5, with his father, Justin LeBlanc from Norwich in 2020.

Five-year-old Clark LeBlanc’s favorite things are Elmo, rhythm music and toys with lights. He also loves when his younger sisters interact with him and when he hears them playing and making sounds – even if he can’t join them.

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

Clark LeBlanc from Norwich at the Bozrah Farmers Market in 2021.

As an infant in 2018, he was diagnosed with a mutation in the GABRB2 gene, which is “a rare neurological condition that causes seizures” that are often drug-resistant, 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 of this genetic disease and increase funding for individuals, businesses and non-profit organizations for research to find a cure. to this disease,” Justin said in a phone interview.

Clark LeBlanc is enjoying special moments with his mother, Rose Horan, in 2021.

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

“So GABA (the receptor) is the main inhibitory neurotransmitter in the brain, which means it kind of slows down other activities. So theoretically, if you have less GABA receptor functioning and you have less d inhibition, this makes people prone to various neurological 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 so on.

“But as a child neurologist, we are more familiar with this, which causes seizure movement disorders and developmental delays in children.”

To keep Clark safe, especially since the start of the pandemic, the family sometimes forgoes attending holiday events and get-togethers, Justin said, explaining that if Clark does get pneumonia, all of his other health issues will go away. worsen. Last June, Clark and his 4-year-old sister were hospitalized at the same time with pneumonia. She recovered quickly; however, “it really hit Clark,” he said.

Even though Clark is eligible for nursing home care through Aveanna Healthcare, which is paid for through Medicaid, Justin said his son hasn’t had a home nurse for several months, due to a nursing shortage.

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

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

Although he doesn’t want Clark to have the condition, Justin said, “It’s been a really great experience for everyone.”

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

Clark’s mother, Rose Horan, said: “Our eldest daughter understands that Clark cannot walk and uses a wheelchair. She loves pushing him. If he knocks an item off her tray, she will often say “Clark, you’re such a silly boy”, as she picks it up. She knows he can’t talk like her and will often say, “Clark speaks from his heart”.

“Since she was 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 youngest daughter runs to the nearest adult when her pulse oximeter (oximeter) beeps or her food runs out,” and she says “C,” the first letter of Clark’s name, “and back and forth until the beep stops. She gets very excited when he sits in his chair next to her and often shares his toys with him or tries to steal his. She will try to share his water bottle and show him Mickey Mouse.

“Even though they are far too young to fully understand all that is Clark, they love and accept him for who he is and hopefully that will never change,” she said.

Justin believes that they have made progress in finding a cure for GABRB2, thanks to the hundred families they have connected with through their private Facebook page, who have children with different variants of GABRB2 and share their information. medicines and their stem cells.

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

GABRB2 probably wasn’t recognized until recently, due to several factors, Schomer said, “the most important being that until the last 10 to 15 years we haven’t done significant amounts of genetic testing on patients and therefore children who had what we now know to be the GABA receptor mutation, very well could have been called something else before, most often referred to as Lennox-Gastaut syndrome.In our field there are these names that we give to sort of define people with different types of epilepsy with severe developmental problems, and it’s only recently that we’ve been able to assign a specific genetic name to many of these conditions.

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

Currently, this GABRB2 gene mutation support group on Facebook is involved in three projects.

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

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

Another project in sight

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

He hopes that much more will be known in the next six to twelve months about genetic Clark disease, as many more scientific studies have taken place.

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

“Ongoing work on these projects will hopefully look specifically at how this disease affects these children and hopefully bring some of them together. So when doctors and neurologists meet these children, they will have more ‘idea’ on which medication, treatment and procedure would be appropriate for their child’s variant.

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

“It’s nice to have a community that understands that you’re kind of in the same struggle rather than just floating through the abyss on your own.”

“I just want to emphasize how helpful I think it is for people to start these groups and really help bring their children’s issues to the fore, because it kind of lights a fire under the researchers and clinicians who deal with them to start finding ways to deal with specific types of individuals, rather than just these big, lumpy categories that we used to use,” Schomer said.

To donate or learn more about this genetic condition, visit curegabrb2.org, Facebook.com/Gabrb2 or Twitter.com/CGabrb2. Or, contact Justin LeBlanc directly by email at [email protected] or by phone at (860) 884-3280.

Long-time Norwich resident Jan Tormay now lives in Westerly.

About Michael Bill

Check Also

Reverse Dravet Restoration of SCN1A Gene Activity in a Mouse Model | Seizures stopped, further gains seen even after symptom onset

Restoring the activity of Scn1a – a murine variant of the gene that is often …