We breathe to live. But what if we forget to breathe?
It may sound absurd but that is exactly what happens to 5-year-old Shriya Raikar when she sleeps. She forgets to breathe.
Shriya (not her real name) suffers from a rare disease known as Rohhad syndrome. Her hypothalamus, the part of the brain that controls her respiratory mechanism, fails to send the signal when she is asleep. She has had three cardiac arrests and has been on ventilator for six months in Bombay hospital.
And she has lived to tell the tale, thanks to doctors at the hospital who tried experimental treatment on her. Shriya will be the first documented case of Rohhad syndrome in the country. Across the world there are fewer than 100 such documented cases.
"She has had a breathing problem for the past two years. Her parents brought her to the hospital after she suffered the second cardiac arrest in November 2013," Dr Mukesh Sanklecha, paediatrician at Bombay hospital, said.
After detailed tests that included studying her sleep pattern and carbon diooxide build-up inside her body, doctors confirmed that she was suffering from Rohhad syndrome (Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) that causes cardiorespiratory arrests and death.
"Unlike a normal person, she would forget to breathe and that would lead to CO2 building up inside her body. That made her drowsy and prone to cardiac arrests. She suffered three cardiac arrests and luckily we could save her. She also has sodium imbalance because of this syndrome," Sanklecha said.
While there's no treatment currently available for Rohhad syndrome, Bombay Hospital doctors experimented with various types of treatment. "We checked medical literature... there is no concrete treatment. All are experimental.
We gave drugs to strengthen her immunity. She was put on steroids. We gave her a BiPAP machine, generally prescribed to acute sleep apnea patients, that helps build a positive airway pressure in the nose and mouth and also helps her remember to breathe while she is sleeping at night."
The girl will be discharged within a week. "We shifted her out of the ICU in May. She has been stable. We will continue this treatment for the next two-three months and monitor her regularly. We did a tracheotomy, a surgical procedure to create an opening through the throat into the trachea (windpipe), when she was on ventilator as it would help her breathe properly. We will surgically close it after two-three months," Sanklecha said.
The doctors have documented the case and it would be sent to international and national medical journals.
The hospital has waived off doctors fees and other charges.
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