According to a story from The Indian Express, a young baby at the Sir Ganga Ram Hospital in Delhi was just diagnosed with an incredibly rare disease that has less than 1,000 confirmed cases in all of history. The infant was diagnosed with congenital central hypoventilation syndrome (CCHS), which can cause a patient to stop breathing during sleep.
What Causes Congenital Central Hypoventilation Syndrome (CCHS)?
CCHS is linked to genetic abnormalities that affect the PHOX2B gene, which is responsible for the production of a transcription factor that is critical for normal development of the nervous system, particularly the autonomic nervous system, which controls involuntary activities that the body automatically does such as breathing or blinking. In effect, the signal that keeps the body breathing on its own gets switched off when the patient enters deep sleep. In most cases, the mutation is not inherited but instead appears spontaneously. CCHS can also be associated with Hirschsprung’s disease and neuroblastoma. There is also a late-onset form of the disease in which symptoms do not appear until early adulthood.
Symptoms
The characteristic symptom is the halting of breathing during sleep, which results in low oxygen levels and a dangerous build up of carbon dioxide in the patient’s body. This build up is indicated by bluish skin and lips. Other symptoms include problems with swallowing, darkened skin color, headache, fatigue, abnormal blood pressure and heart rate, excessive sweating, abnormalities in pain sensitivity, constipation, sleepiness, and insomnia. Patients with CCHS are also more sensitive narcotics and sedative drugs.
Treating CCHS
At this juncture, CCHS patients require some sort of breathing assistance, such as a diaphragm pacemaker or mechanical ventilation, in order to stay alive. Without assistance, most patients will not survive their early infancy. Even with access to breathing devices, most patients will not survive past their 20s or 30s. This is mainly due to the fact that their are serious risks that accompany using ventilator equipment for long periods of time. People that use them are at greater risk serious infections and pneumonia.
Hopefully, future advances in the treatment of CCHS will allow for patients to live longer and more normal lives.
