Diaphragm Pacing & CAMP Program: Setting Norah Free

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Norah and her parents, Corrie and Curtis, with her care team, CAMP director Dr. Debra Weese-Mayer (far left) and pediatric surgeons Dr. Anthony Chin and Dr. Rashmi Kabre.

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Two-year old Norah Calvert was born unable to breathe on her own.

“The day after her birth we noticed her coloring was off,” said Norah’s mom Corrie.  Norah had a rare, life-threatening autonomic nervous system disorder.

That condition meant that Norah would be tethered to a mechanical ventilator just to stay alive. 

The machine became a type of appendage. "One of us was always trailing behind her anywhere she went, carrying the 17-pound ventilator," said Corrie. "She had no independence, which made her more timid, and that was not her personality."

All that began to change last August when two pediatric surgeons from Lurie Children’s implanted a diaphragmatic pacer into her chest, which would ultimately allow her to begin to have more freedom.

Diaphragm pacing, a form of artificial ventilation, uses implanted electrodes to stimulate the muscles of the diaphragm to contract, helping patients breathe. Lurie Children’s is one of only a handful of pediatric medical centers worldwide that offers this procedure.  The surgery is a component of a unique multidisciplinary program at the hospital's Center for Autonomic Medicine in Pediatrics (CAMP).

Norah was born with the genetic disorder congenital central hypoventilation syndrome (CCHS), a condition that affects fewer than 1,300 individuals worldwide. CCHS can vary in severity and can affect a variety of autonomic nervous system processes, most commonly the ability to breathe.

The Calvert family lives in Kansas, and it took stays at three area hospitals before a neonatologist at a children's hospital in Kansas City, MO, ordered genetic tests on a hunch, which indicated Norah had CCHS.

"We were both relieved and scared by the diagnosis," said Corrie. "Relieved to finally have an answer to why Norah couldn't breathe on her own, but scared to learn it was a lifelong issue that isn't curable."

Seeking Expertise

Norah’s parents began searching the web for hospitals with expertise in treating CCHS, and ultimately contacted Lurie Children's CAMP program, which had also been mentioned by Norah's pulmonologist in Kansas City.

Led by Debra E. Weese-Mayer, MD, CAMP is the first and only program of its kind in the world, one that integrates the expertise of specialists from across the hospital. CAMP is also a leader in research into the genetic basis of CCHS and related disorders, including sudden infant death syndrome and rapid-onset obesity with hypothalamic dysfunction.

In June 2016, the Calvert family came to Chicago, where Dr. Weese-Mayer, respiratory therapists, sleep medicine specialists and other members of the CAMP team provided a crash course on all aspects of CCHS. The team spent five days performing extensive tests on Norah, monitoring her closely and adjusting her ventilator settings.

"Developmentally, Norah is now exactly where she should be," says Corrie. "She can speak in complete sentences and vocalizes clearly. We attribute a lot of that to the CAMP team, who made sure she has the optimal ventilator settings to provide oxygen to her brain."

One of the CAMP team specialists they met with was Anthony Chin, MD, one of only a few pediatric surgeons in the U.S. with expertise in performing an advanced minimally invasive thorascopic surgical procedure that offers pediatric CCHS patients meeting specific criteria an alternative to mechanical ventilation. Norah met the requirements for the procedure but would need to wait until she was age 2 to undergo the surgery.

In August 2017, Dr. Chin, assisted by fellow pediatric surgeon Rashmi Kabre, MD, implanted a quarter-sized receiver in Norah's chest that receives electric impulses from an external transmitter. These impulses travel from the receiver to electrodes attached to the phrenic nerve, the nerve that moves the diaphragm, which is the main muscle needed for breathing. The stimulation of the nerve causes a diaphragmatic contraction that generates breathing.

Backpack: Symbol of Freedom

Three months later, in November, Norah and her family returned to Lurie Children's to have her pacer activated and programmed.

Norah pre-surgery, tethered to a 17lb. ventilator (top), and Norah post-surgery,  (bottom) wearing just a small backpack, which holds the pacer’s battery–powered transmitter.

 

As a result, Norah is now free from being physically connected to her ventilator during the day, and instead wears a small backpack that holds the pacer's battery-powered transmitter. At night she continues to use her larger mechanical ventilator.

“The newly found freedom gives Norah so much joy,” said Corrie.  "I think having more independence and being able to go down a slide by herself or run around on her own like other kids will help Norah blossom into the person she’s meant to be.”