No Longer Burdened with a Ventilator When Awake, Mariella Finds New Freedom

Mariella and her family arrived at Ann & Robert H. Lurie Children’s Hospital of Chicago in July after what felt like one of “the longest waits of our lives,” said her father, Victor.

In February, Mariella, then four years old, had a delicate and specialized phrenic nerve-diaphragm pacer surgery that would allow her to move freely when awake without being tethered to a 15-pound ventilator. She has needed the cumbersome but life-sustaining device since birth to support her breathing during the day and overnight.

Typically, children who undergo this pacer implantation procedure return to the hospital about six weeks after the surgery to receive a backpack to wear that carries a transmitter to support breathing, allowing them to forego the heavier ventilator during awake activities.

But due to the uncertainty and social distancing related to COVID-19, the family, who lives near Nashville, Tennessee, had no choice but to put the planned hospitalization on hold.

“It was very hard for us to just stay home, knowing the possibilities the pacers would allow Mariella,” Victor said.

Expertise at Lurie Children’s

Mariella was born with a rare, life-threatening autonomic nervous system disorder called congenital central hypoventilation syndrome, or CCHS. With CCHS, the brain fails to properly control breathing to maintain healthy levels of oxygen and carbon dioxide. Babies born with it depend on mechanical ventilation with a respirator so they can stay alive.

Like many children with CCHS from all over the globe, Mariella’s family came to Lurie Children’s for treatment.

Founded and led by Debra E. Weese-Mayer, MD, Lurie Children’s Center for Autonomic Medicine in Pediatrics, or CAMP, program is the first and only multidisciplinary program of its kind in the world. The referral base for CAMP includes physicians and patients in 48 states and 52 countries. Dr. Weese-Mayer, with Ilya Khaytin, MD, PhD; Susan Slattery Chioffe, MD, HSOR; and their team in the division of autonomic medicine, are international leaders in research into the genetic basis of CCHS and related disorders, and in providing medical care for the children they have the privilege of serving.

Surgeons and anesthesiologists are among Lurie Children’s CAMP experts. Anthony Chin, MD, is a pediatric surgeon with expertise in performing an advanced minimally invasive thoracoscopic surgical procedure that offers pediatric CCHS patients meeting specific criteria an alternative to mechanical ventilation.

He and fellow pediatric surgeon Rashmi Kabre, MD, implanted a quarter-sized receiver, a phrenic nerve-diaphragm pacer, in Mariella’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 phrenic nerves causes a diaphragmatic contraction that generates each breath.

The surgeons work alongside Heather Ballard, MD, a pediatric anesthesiologist with expertise in providing anesthesia to children with CCHS and other autonomic disorders. Keeping these vulnerable children safe in the operating room is essential to optimize their outcome.

‘A Whole New World for Her’

Finally, in July, just days after her fifth birthday, Mariella’s providers and family agreed it was safe enough for them to visit Chicago again.

Now, after CAMP specialists this month activated the pacers in her chest, Mariella carries a small purple unicorn backpack that holds her pacer’s battery-powered transmitter, which weighs less than one pound. She no longer needs her parents to be right next to her holding a ventilator to run and play. The little girl, who knows English, Spanish and American Sign Language, will have more opportunities than ever before.

“With this little backpack, we – through the transmitter – can do her breathing for her,” said Dr. Weese-Mayer. “It allows these amazing children to be children – who happen to have CCHS.”

Victor said Mariella told him she looks forward to being able to hop out of her bed to wake up her best friend and big sister, Regina, who is 14 but referred to as her “twin.”

“This just opens a whole new world for her,” Victor said.

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