Life Is Like That!

Every year, approximately 6,000 babies are born with Down syndrome. Among these infants, about 60% also experience an additional challenge: obstructive sleep apnea (OSA). This condition often occurs due to the distinct anatomical features associated with Down syndrome, such as narrower airways, lower muscle tone, an enlarged tongue (macroglossia), and constricted nasal passages.
 
For children with OSA, the effects can significantly impact their daily lives. Poor sleep quality may lead to behavioral issues, classroom challenges, and communication difficulties. While some children find relief through treatments like continuous positive airway pressure (CPAP) therapy, others struggle to adapt to wearing a CPAP mask due to sensitivities, making long-term use challenging.
 
Let’s explore Fisher’s story. Her journey with sleep issues began long before she was diagnosed with obstructive sleep apnea (OSA) at the age of 12. As a child with Down syndrome, Fisher encountered numerous difficulties, including restless nights and the exhaustion that accompanied them. Having her adenoids removed at just five years old marked the beginning of her struggle for a good night’s sleep.
After undergoing a tonsillectomy and being prescribed a Continuous Positive Airway Pressure (CPAP) machine, Fisher and her family remained optimistic. However, the struggle continued. It wasn’t until she participated in an inspiring clinical trial for Inspire® therapy that significant changes began to occur.
 
In March 2023, Inspire therapy received FDA approval for use in children aged 13 to 18 who had specific apnea-hypopnea index (AHI) scores and were not benefiting from CPAP. Fisher’s mother, Shauna, had researched alternatives long before this breakthrough. The CPAP machine proved to be a difficult fit for Fisher, even causing an allergic reaction, which left her drained and often napping throughout the day due to chronic sleep deprivation. One day, while watching a commercial for Inspire therapy, Shauna felt a spark of hope. She began researching the therapy but soon discovered it wasn’t available for pediatric patients. A few years later, their move from Texas to New Hampshire opened new opportunities. Shauna joined an active Facebook group, where she came across a post about clinical trials for Inspire therapy in pediatric patients with Down syndrome.
 
Eager to find help for her daughter, Shauna pursued this opportunity. However, when it was time for Fisher to undergo a new sleep study to qualify for the trials, their first attempt was unsuccessful due to the severity of her OSA. Yet, determination prevailed, and a subsequent procedure effectively reduced Fisher’s sleep apnea events, allowing her to qualify for the clinical trials led by Inspire Medical Systems Inc.
Fisher received the Inspire implant just months after it was officially approved for pediatric patients with Down syndrome, and the transformation was remarkable. Within two to three weeks of activation, her parents witnessed a revival in their daughter’s spirit. No longer reliant on daytime naps, Fisher was filled with newfound energy, engaging more with family and friends than ever. This was not just an improvement in her sleep; it marked a new chapter in her life, filled with conversations, laughter, and a brighter outlook.
 
Exciting news for families! Riley Children’s Sleep Program, in collaboration with ENT, is offering this Inspire therapy for selective Down syndrome. Dr. Harish Rao, Associate Director of the Sleep program at Riley, highlights the promising potential of Inspire therapy for children with Down syndrome, provided they meet specific FDA criteria. According to him, for the Inspire device to be effective, the child must be at least 13 years old, have an Apnea-Hypopnea Index (AHI) between 10 and 50, and should not have found relief through adenotonsillectomy or CPAP therapy. While we wish we could offer this innovative treatment to all, the best candidates are those who can express the sensations in their tongue, show a willingness to comply with the treatment, and have engaged parents to guide them through the process, says Dr. Rao.
 
This groundbreaking therapy is a beacon of hope for children battling obstructive sleep apnea (OSA), especially for those who struggle with traditional CPAP therapy, opening new avenues for a better night’s sleep and an improved quality of life.
 
So, how does it work? Think of Inspire as a pacemaker for the tongue. It stimulates the muscles to keep the upper airway open during sleep. The procedure involves implanting a small device under the skin of the chest wall while the patient is under general anesthesia. With a pressure-sensing lead that detects breathing and a stimulating lead that delivers gentle impulses, Inspire effortlessly stabilizes the airway. Dr. Rao says they work in collaboration with the ENT who places the implant. “Patients first come to Riley for a sleep consult, get their initial evaluation, and a closely monitored trial of PAP therapy. If they fail PAP therapy, patients are referred to ENT for anatomical assessment and Inspire placement. Our dedicated sleep team expertly handles the remainder of the management.  After the implantation, the device gets activated during a post-operative sleep study and can be controlled easily at bedtime with a handheld remote. Plus, a mobile app allows caregivers to track and share sleep data with their child’s care team, making management stress-free!”
 
Inspire truly shines with its simplicity—no masks or hoses, just a peaceful night’s sleep for children. Many caregivers have shared heartwarming stories of their children with Down syndrome experiencing less daytime fatigue, heightened alertness, and an exciting burst of energy since using Inspire!  However, Dr. Rao recommends that families carefully consider their options for Inspire placement. Every treatment plan has its advantages and challenges, making it essential for families to reevaluate the possibility of trying PAP therapy once more. “Remarkably, we’ve seen patients succeed with PAP even after being deemed intolerant,” adds Dr. Rao.
 
The journey towards finding the right solution is all about collaboration between sleep medicine specialists and parents. It’s worth noting that using this device isn’t as straightforward as depicted in commercials—even adults can find it tricky! Dr. Rao highlights the potential complications that come with surgical implants, such as migration or failure, and the risk of fibrosis around the cuff placed over the hypoglossal nerve. “We’ve also noted that some children struggle with device activation at bedtime. One significant hurdle is their inability to express how their tongue feels during the adjustment of settings. We often find ourselves guessing the right adjustments for the tongue’s movement in response to stimulation. And let’s be honest—some kids have larger tongues that can hang out of their mouths! As a result, we’ve learned to take a slower, more deliberate approach when increasing voltage on the device to find that optimal treatment level. The path to better sleep is not just a journey but a partnership built on understanding and patience,” says Dr. Rao.