A female child was born at term through an emergency cesarean section (CS) performed for non-progress of labor. From the very beginning, her medical journey was marked by complexity and uncertainty.
The initial moments after birth were challenging. The child required stimulation to cry, a subtle indication that something might not be entirely typical. By evening, she became cyanosed [developed a bluish discoloration indicating low oxygen] and bradypneic [abnormally slow breathing], necessitating immediate intubation.
After 24 hours, hope emerged as the child demonstrated spontaneous breathing and was successfully extubated. Those brief moments of stability, however, were short-lived.
Three days later, the child became lethargic. Blood investigations revealed a concerning finding – her partial carbon dioxide pressure (pCO2) had risen dramatically, exceeding 100. Once again, intubation became necessary. Curiously, after intubation, the child regained normal activity – a puzzling pattern that would define her medical journey.
The cycle repeated, leading to a referral to our center, where I was posted as a resident doctor in NICU. Initially, we managed her with Continuous Positive Airway Pressure (CPAP), a non-invasive breathing support method. But her condition continued to deteriorate. The child progressively became more lethargic, with persistent CO2 retention, ultimately requiring intubation once more.
We then arrived at a diagnosis: Congenital Central Hypoventilation Syndrome (CCHS), colloquially known as “Ondine’s Curse” – a name that carries both medical mystery and ancient mythology.
Breathing is something we never consciously remember doing. Right now, as you read these words, your body breathes automatically. Your brain sends signals to your lungs without you thinking about it – a silent, continuous dance of survival that happens thousands of times each day and night. But what if that dance suddenly stopped? What if your body simply forgot to take the next breath?
In medieval European folklore, Ondine was a water nymph who cursed an unfaithful lover with a terrifying punishment. If he ever fell asleep, he would forget to breathe. It was a metaphorical death sentence – a punishment more cruel than immediate death, forcing the victim to consciously remember each breath or face immediate suffocation.
Medical science has transformed this mythological curse into a real condition. Congenital Central Hypoventilation Syndrome is precisely this – a neurological disorder where the automatic breathing control center in the brain fails. For most humans, breathing during sleep is an unconscious process. For patients with CCHS, sleep becomes a potential life-threatening event.
The child’s body demonstrates this cruel mechanism dramatically. During wakefulness, she might breathe relatively normally. But as sleep approaches, her brain fails to send the crucial signals that maintain breathing. Carbon dioxide builds up, oxygen levels drop, and the body enters a dangerous state of respiratory failure.
We conducted an MRI, hoping for clarity. The results were inconclusive, showing only subtle features suggestive of Hypoxic Ischemic Encephalopathy [brain damage from lack of oxygen]. Blood and urine panels provided no additional insights.
At present, we have opted for non-invasive ventilation. Our goal is to prevent CO2 retention while avoiding repeated intubation. We remain at a critical juncture, unsure of the next steps in managing this complex medical condition.
The medical challenge is challenging: how do we ensure consistent breathing for a child whose body seems to forget this most fundamental of life’s processes? Each breath becomes a negotiation between medical intervention and the body’s intrinsic mechanisms.
For now, we watch, we monitor, and we continue our relentless pursuit of understanding – hoping that each moment brings us closer to finding a solution for this remarkable child.