Diana is six years old. She’s bright, active and outgoing. She’s similar to just about any other six year old, except for one thing – she can’t breathe adequately on her own.
Diana has congenital central hypoventilation syndrome (CCHS), a rare condition that affects the autonomic nervous system, including control of breathing. CCHS affects fewer than 1,300 individuals around the world. While it can vary greatly in severity, its most common symptom is the inability to breathe adequately to sustain proper oxygenation and ventilation during sleep, and in more severe cases, during wakefulness as well.
Diana goes to school and runs around on the playground, but she does it all tethered to the 5-foot vacuum-cleaner type tubing of her mechanical ventilator, which she has named Filomeno.
This fall, Diana, her family and Filomeno travelled to Lurie Children’s from their home in Peru. It was their third time in Chicago to meet with pediatric surgeons Dr. Anthony Chin and Dr. Rashmi Kabre, as well as Dr. Debra Weese-Mayer, Chief of the hospital’s Center for Autonomic Medicine in Pediatrics (CAMP). When Diana was younger, they’d learned that Lurie Children’s had a program specifically for their daughter’s diagnosis, and knew they had to make the trip. This third visit, however, was different than the first two – this time Diana was having surgery.
In late October, Drs. Chin and Kabre implanted a phrenic nerve-diaphragm pacer, a form of artificial ventilation that relies on implanted phrenic nerve electrodes and receivers to help patients breathe. Once her pacer is activated later this year, Diana will no longer need Filomeno during the day. Instead, she will be able to get around with just a small backpack containing the pacer’s battery-powered transmitter.
“She says she’ll miss ‘him’ a little bit,” Diana’s mom says of the ventilator. “But the diaphragm pacer will give her so much more independence. Right now, someone follows her with the ventilator all the time – at school, with friends, everywhere. The pacer will eliminate that and allow her to be more like a regular girl her age.”
Once her pacer is programmed by Dr. Weese-Mayer and her CAMP team, Diana and her family will need to travel to Chicago once or twice a year to re-program the pacers to account for Diana’s growth. While they have pediatricians in Peru, Lurie Children’s Center for Autonomic Medicine in Pediatrics is unique; it is the first of its kind in the world.
2013 was the last time Diana and her family were in Chicago. They knew they wanted the diaphragm pacer, but weren’t quite ready. To help them prepare, they were able visit another child going through the same experience.
“Letting Diana see and touch everything first-hand helped us gain confidence to know that this was what we wanted to do,” Diana’s mother said. “It helped us be more aware of and comfortable with the procedure and it’s what I’d recommend to anyone in our shoes whether they’re coming from far away or not.”
Diana’s family used many words to describe her, but the one her mother attributes most to her now is “brave.”
The multidisciplinary care that CCHS requires is a lot for anyone to deal with, let alone a young child. But Diana continues to handle it all with strength and bravery.
Living in Peru, Diana says she has never seen snow before. She’ll be back at Lurie Children’s in December not only to have her diaphragm pacer activated, but perhaps to experience the magic and grace of a first snow, as well.
The Center for Autonomic Medicine in Pediatrics (CAMP) at Lurie Children’s is the first of its kind in the world. The center is an interdisciplinary program that studies diseases affecting children’s autonomic nervous systems (ANS). The ANS regulates breathing, body temperature, heart-rate, blood pressure, gut motility and more. CAMP has emerged as a leader in the study of the genetic basis of congenital central hypoventilation syndrome (CCHS), rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) and sudden infant death syndrome (SIDS).