Shane and Tiffany felt like they were at a dead end. Their son, Patrick, was getting very little sleep at night due to sleep apnea (a condition where breathing is interrupted during sleep.) He also has Down syndrome, autism, is nonverbal and developmentally delayed.

Sleep apnea is common in children with Down syndrome because they frequently have a large tongue, which can cause an airway blockage during sleep.

While Shane was serving in the Army in Colorado after stints in Iraq and Afghanistan, he and Tiffany were encouraged to get a sleep study for Patrick to confirm he had sleep apnea. Once the study was completed and diagnosed, doctors prescribed a continuous positive airway pressure (CPAP) machine to help manage the apnea and provide Patrick with some relief to get a good night’s sleep.

A CPAP machine delivers a continuous flow of air through a mask that fits over the nose and mouth. The constant pressure from the airflow keeps the upper airway open, preventing it from collapsing.

“It was a real struggle just trying to keep the CPAP device on Patrick all night,” Shane says. “He was only 11 years old at the time, and it was noisy and uncomfortable. He could only tolerate it for three to four hours at a time. It gave him some relief to help him sleep, but not much.”

The lack of rest led to frustration and behavioral issues.

After Shane retired from the military, the family moved to Odessa, Florida.

“Having a child with special needs and being in the military where you get transferred all over the country can be challenging,” Shane explains. “When we decided we were coming to Florida, Patrick’s doctors knew immediately that Johns Hopkins All Children’s Hospital would have all the medical expertise he needed.

Soon after arriving, Shane scheduled an appointment with Luis Ortiz, M.D., a sleep physician at the hospital, to look for other options to help Patrick’s apnea.

Ortiz ordered an updated sleep study for Patrick.

“The study is important to help us determine brainwave activity, airflow, heart rate, heart rhythm, oxygen levels and breathing effort,” Ortiz says. “We also use video surveillance to monitor the patient while they sleep.”

Shane said it was difficult getting Patrick to wear the CPAP long enough to get an accurate sleep study. It took several tries. Finally, the doctors were able to prescribe a sleep study at home, with Shane and Tiffany monitoring the progress.

The results again confirmed that Patrick was suffering from severe sleep apnea.

However, this time, Ortiz had a better solution for Patrick.

He was aware that the Food and Drug Administration (FDA) in 2023 had approved a hypoglossal nasal nerve stimulator specifically for children with Down syndrome with obstructed sleep apnea who could not tolerate CPAP. The implantable device delivers mild stimulation to the tongue and other muscles in the airway. This stimulation helps to keep the airway open during sleep, preventing pauses in breathing. The device had been available to adults for several years.

“Patrick met all the benchmarks and seemed like the perfect candidate,” Ortiz says. “No more mask or machine noise. It sounded like the perfect solution.”

Ortiz called on his colleague, Julia Pfaff, D.O., an ear, nose and throat specialist who has medical privileges at Johns Hopkins All Children’s Hospital and is trained to implant the device.

“As soon as this device was approved for pediatric patients with Down syndrome, Dr. Ortiz was on board,” Pfaff says. “He helps to identify patients that are good candidates. That’s how I first met Patrick and his family.”

The surgery is about one hour and requires general anesthesia, Pfaff explains. It involves several small incisions and an overnight hospital stay. There are minimal risks, mostly involving infections and tolerance to anesthesia.

By coincidence, Patrick’s mother, Tiffany is an attorney for the FDA who reviews policies for medical devices like the one her son received.

“Her work with the FDA actually helped us understand the science and how the device was tested,” Shane says. “We felt it was low risk. We could build a sleep strategy for Patrick with this device rather than CPAP.”

“This is a huge game changer for us in the sleep medicine world since almost 100% of children with Down syndrome have sleep apnea,” Ortiz says. 

“Patients motivated to go forward with the process understand there is some complexity to it, but we find patients are achieving good benefits,” Ortiz says.

After a one-month healing period, the patient will return to the hospital and Ortiz activates and adjusts the device to best fit the patient’s needs.

Pfaff implanted the device in Patrick in July. Now, Ortiz will be responsible for managing Patrick’s care and monitoring the device.

“The teamwork between Dr. Ortiz, Dr. Pfaff and the device representative was great,” Shane says. “It’s nice that everybody is on the same page and talking to each other.”

“I’m so excited, because this is cutting edge,” Ortiz says. “We now have some of the first pediatric patients outside of the clinical trials to use this device. And only one of a few children’s hospitals doing this procedure.”

Patrick just completed his post implantation sleep study and it showed he had complete resolution of his obstructive sleep apnea with his device.

That sits well with his parents who now have a better lifestyle with healthier sleep habits. They are also seeing real improvement in Patrick’s attitude and behavior.

Julia Pfaff, D.O., is on the medical staff of Johns Hopkins All Children’s Hospital, Inc. (“JHACH”), but is an independent practitioner who is not an employee or agent of JHACH.