For years, Farrell Blum battled sleep apnea. Like other young people with down syndrome, his breathing would pause and begin while he dozed, the main symptom of the potentially dangerous condition, however he didn’t wheeze nor appear to be tired during the day. While Blum had a persistent positive airway pressure (CPAP) machine, a common treatment for sleep apnea, he didn’t particularly like using it.
Then his PCP mentioned a clinical trial for a new gadget that works a bit like a tongue pacemaker. (Pacemakers typically are implanted into the heart to help control the heartbeat.) It would require a medical procedure, but it meant Blum would never again have to wrestle with his CPAP machine’s uncomfortable and awkward mask. His parents enlisted Blum when he was 15 years old and were astonished by how the gadget changed him.
Blum, presently 21, was the second juvenile with down syndrome to take part in a stage one clinical study of the implantable gadget, a hypoglossal nerve trigger, which is FDA approved for adults. It works by flagging the nerve that controls the tongue to push it forward, opening up the airway when the patient slowly inhales while sleeping.
“I saw a big improvement,” mom Janine Farrell-Blum, 58, from Long Island, told TODAY. “He was more alert in class. He was more cooperative. I can’t even begin to tell you — he was just a different person.”
While researchers were initially concentrating on the hypoglossal nerve trigger to ensure it was effective in kids, they learned it appeared to lend other benefits, too. The paper was published in JAMA Otolaryngology, Head and Neck Surgery in April.
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“Parents would come back to us and say, ‘Not only is this making their sleep better, but they’re doing better at school, and they’re speaking better, and they’re not as angry and aggressive and irritable,’” Dr. Christopher Hartnick, director of the pediatric otolaryngology division and Pediatric Airway, Voice and Swallowing Center at Massachusetts Eye and Ear, told TODAY.
As head of the Down Syndrome Program at Massachusetts General Hospital, Dr. Brian Skotko sees around 600 patients every year, who again and again experience obstructive sleep apnea. The first step is often to remove adenoids and tonsils, as enlarged adenoids and tonsils can cause sleep apnea in children. However, it doesn’t always work in patients with Down Syndrome.
Individuals with Down Syndrome develop sleep apnea for a lot of the same reasons as any other person, but people with Down Syndrome sometimes have smaller breathing pathways or bigger tongues that can impede their airways. Removing expanded adenoids and tonsils helps a lot, but not all.
“We have people with Down syndrome who are stuck with obstructive sleep apnea, and that could cause a lot of complications,” Skotko told TODAY. “With the treatment that we had…you have to wear a mask at night. And it’s hard enough for the neurotypical population to tolerate masking at night but, for people with Down syndrome — who have sensitivity issues, who have difficulty understanding it — it is just a real challenge.”
— Brian Skotko (@brianskotko) April 29, 2022
In surgery, Hartnick embeds a processor under the skin beneath the right nipple so it can identify when the patient is attempting to relax. The processor sends a message through a wire that runs under the skin close to the jawline and is connected to the hypoglossal nerve, which can push the tongue forward and in reverse or sideways. It’s vital to make sure the device is connected to the correct branch of nerves to move the tongue in the correct direction needed.
“It was working for the neurotypical adult population, and we said, ‘Oh, we have another population that really needs this therapy,’” he recalled. “Working with Dr. Hartnick, we were able to launch a study for people with Down syndrome.”
“Obstructive sleep apnea in any of us, if it goes untreated, can lead to brain fogging and some challenges in cognition,” Skotko added. “For people with Down syndrome that start with an intellectual disability, we do not want them to lose an extra 10 IQ points to obstructive sleep apnea.”
The clinical trial recruited 42 patients between the ages of 10 and 22 to have the hypoglossal nerve trigger embedded. Hartnick had to marginally change the procedure so it could work better for younger patients.
When Blum’s mother, Janie Farrell-Blum, discovered that the gadget would move Blum’s tongue when he snoozed, she wondered if it would assist with Blum’s capacity to communicate.
After around half a year of utilizing the gadget, Farrell-Blum began to notice her son seemed like a different person.
“He’s sleeping better, and his whole body is better,” she said. “Our lives are so much richer because he feels better.” Blum, who swims, surfs, and takes boxing classes, also acknowledges how important the device is for his health. Not long after his medical procedure, as he saw his mother packing for their trip, he made a point to include what he thought was an essential travel item – the controller to the stimulator.
“That’s how important it was right away for him. He knew that it changed his life,” she said. “We’re in year seven. He uses it every night. I cannot think of a night that he has not used it.”