Sabiha Aoudia and Atmane Abbas were visiting the United States from Algeria when, suddenly, Aoudia began experiencing some pregnancy complications. She underwent an emergency C-section and Alice, the couple’s daughter, entered the world on November 22, 2017. But from the time Alice was born, she struggled with her health. According to ABC News, Alice was not able to breathe on her own. Doctors rushed her to the NICU, where Alice was intubated for respiratory support. Testing eventually showed that Alice had congenital central hypoventilation syndrome (CCHS) and Hirschprung’s disease, a rare congenital condition characterized by weakness in the large intestine.

Soon after Alice’s birth and subsequent diagnosis, doctors had a difficult talk with Aoudia and Abbas. They mentioned that it was likely that Alice would never speak or walk on her own. More frighteningly, doctors told the parents that Alice would likely not survive for very long.

But her parents would do anything for their child. For two years, Alice underwent different surgical and treatment interventions. Alice struggled with breathing on her own and required ventilation assistance. To this day, she still has a hard time with breathing, but utilizes respiratory support in the form of a tracheostomy tube and ventilator.

Recently, Alice celebrated her fifth birthday with her parents. Despite their challenges, Abouia and Abbas are thrilled to see how far their daughter has come. They describe her as lively, bright, and full of life. Moving forward, the family is soon facing a new challenge: funding the costs for a diaphragmatic pacemaker. However, they hope that if they are able to raise the money, this procedure would help Alice live a more free and independent life.

What is Congenital Central Hypoventilation Syndrome (CCHS)?

Congenital central hypoventilation syndrome is a rare disorder which impacts the central and autonomic nervous systems (CNS and ANS). The ANS plays a role in regulating temperature, heartbeat, blood pressure, intestinal motility, and breathing: many of the processes or bodily functions that happens without us thinking about it. In CCHS, PHOX2B gene mutations lead to problems in ANS development, as well as impaired PHOX2B protein. Symptoms and characteristics of CCHS can include:

• Short, shallow breathing — particularly during non-REM sleep
  • This leads to reduced oxygen but increased carbon dioxide in the brain.
• Cyanosis (bluish discoloration of the skin and lips)
• Poor circulation
• Absent or impaired bowel function
• Heart rate variability
• Abnormal pupils
• Feeding difficulties from acid reflux and decreased intestinal motility
• Altered blood pressure regulation
• Cardiac asystoles (heart stops beating)

Without treatment, CCHS can be serious and life-threatening. Treatment typically requires either a respirator, ventilator, or phrenic pacemaker. Other associated health problems are treated symptomatically.