Ellie, With Rare Genetic Breathing Disorder, Starts High School Trach-Free

This fall, Ellie started high school and turned 15. The important moments came with another life-changing milestone: the tracheostomy tube she needed for breathing assistance at night is gone.

Ellie was born with congenital central hypoventilation syndrome (CCHS), a rare condition that affects control of breathing. Fewer than 2,000 people around the world have been diagnosed with it since CCHS was first described 50 years ago.

When she was just five weeks old, her mother, Claudia, was holding baby Ellie when she stopped breathing for the first time.

“Her nails were purple, and she was pale. It was so strange and scary,” Claudia said.

The baby was rushed to the emergency department at the Wisconsin hospital near the family’s home and ended up staying at the Newborn Intensive Care Unit. After much confusion and several long weeks for the family, a geneticist determined Ellie had CCHS. Ellie received a tracheostomy tube to support her breathing, and a “portable” mechanical ventilator only needed while she slept, and was sent home. But the family remained worried.

“It was really scary knowing she could stop breathing at any moment,” Claudia remembers.

Challenges in finding the right treatment

For the first decade of Ellie’s life, the family struggled to find the right care for her since CCHS is such a rare condition. Ellie slept badly, was sick often and missed school.

The family found some reassurance when Ellie turned 10 years old and got a referral to Ann & Robert H. Lurie Children’s Hospital of Chicago. After overcoming some challenges with their health insurance, they were able to secure an appointment with Lurie Children’s Center for Autonomic Medicine in Pediatrics, or CAMP.

The one-of-its-kind center is an interdisciplinary program that studies diseases affecting children’s autonomic nervous system (ANS). The referral base for CAMP includes physicians and patients in 48 states and 52 countries.

Debra E. Weese-Mayer, MD, with Ilya Khaytin, MD, PhD; Susan M. Slattery, 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. They are also experts in providing medical care for the children they have the privilege of serving.

Ellie said she remembers feeling safe and comforted when visiting Lurie Children’s for the first time.

“They really gave me hope,” she said.

The right time for decannulation

This summer, the family and Dr. Weese-Mayer’s team determined Ellie’s strength, age, maturity, and family support made her ready for decannulation, or removal of her tracheostomy tube. At night, she could instead use mask ventilation for breathing life-support during sleep.

Still, a defect with the stoma in her neck meant it might never close on its own. Because Lurie Children’s offers services from pediatric physicians in every specialty, the CAMP team partnered with the Division of Otolaryngology and Taher Valika, MD, an expert in pediatric airway surgery and long-time collaborator with the CAMP team.  After examining Ellie’s airway, Dr. Valika determined he could surgically close the hole in her neck with a tracheal graft procedure.

Ellie endured the procedure in September, staying in the Pediatric Intensive Care Unit for continued care and management for 1.5 weeks before thorough reevaluation by the CAMP team to ensure her mask ventilator support for all sleep time was optimized.

‘Light at the end of the tunnel’

Now, Ellie is home attending 9th grade virtually. The artistic teen who loves photography and painting said she looks forward to being able to attend school in person again and making new friends – and not having to answer questions or explain the hole in her neck.

“There’s always a light at the end of the tunnel,” Ellie said of her past struggles. “Be patient and always be open-minded – there’s always something good to look forward to!”

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