In a first such reported case in the country, a five-year-old girl here has been found to be suffering from a rare breathing disorder – ‘ROHHAD’ syndrome – for which there is no “perfect treatment” at present.
The girl breathes normally when awake, but either completely stops breathing or breathes irregularly while asleep, a doctor treating her told.
“The girl was first admitted to our hospital three years back for a spine tumour called ganglioneuroblastoma. We had treated her then and discharged her,” said Dr. Mukesh Sanklecha, paediatrician at Bombay Hospital, where she is currently undergoing treatment.
“Her parents readmitted her in May 2013 when she started getting increasingly drowsy. We had to keep her in the ICU once again to make sure she has no breathing problem. She was given a discharge in October. She had even suffered two cardiac arrests while she was in the ICU,” he said.
The child was again admitted to the hospital in December 2013 and was put on ventilator.
“When she got admitted for the third time, we did a complete diagnosis of her illness and realised that she was suffering from ROHHAD (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation) syndrome,” he said.
“A person’s breathing is controlled by the hypothalamus (a portion of the brain). In her case, when she is awake she breathes normally and either stops breathing, or does not breathe properly when she is sleeping as a result of which the oxygen level in her body drops dangerously and carbon dioxide level increases and she goes into coma,” he said.
The girl was shifted to the pediatric ward in June this year, where she is still undergoing treatment.
“Since the girl faces no problem while she is awake, we only have to take care of her while she is sleeping…So when she goes off to sleep, we attach a nasal Bi Pap (positive airway pressure) machine which ensures that she continues to breathe when she is asleep,” Dr Sanklecha said.
Since there are only about 100 cases of ROHHAD syndrome reported worldwide and this is the first such case in India, the treatment being offered to patients is only “experimental,” he said.
“There is no perfect treatment of this disease till now. After we discharge her in the next few weeks, we will keep a tab on her case and hope that in future, a permanent cure develops for patients suffering from this syndrome.
“Till then, she will have to sleep with a Bi Pap machine inserted in her nose,” he said, adding that since March this year all her medical expenses are being borne by the Bombay hospital,” the doctor said.