Mumbai: 4-year-old girl brought to hospital for malnutrition treatment battles rare genetic disorder

Krushna Bhore with wife Surekha and their daughter Archana at Sion hospital. Pic/Rajesh Gupta

A Tribal family travelled all the way to the city from a hamlet in Palghar district to get their four-year-old daughter the treatment for acute malnutrition, but were devastated to learn that their only child was also suffering from a rare genetic disorder.

While undergoing treatment at Sion hospital, Archana Krishna Bhore was diagnosed with leukodystrophy, which affects the central nervous system. A senior paediatrician from Virar, Dr Hemant Joshi, said leukodystrophy is incurable.

Archana, a resident of Biwaldhar in Jawhar taluka, weighed 6.3 kg when she was brought to Sion hospital on December 19. "Her her weight is fluctuating. It had slightly gone up to 7 kg, but has again dropped to around 6.5 kg. But there is some improvement in her health," said a medical professional at Sion hospital.

She should ideally weigh 16 kg, said Dr Anuja Pethe, consultant paediatrician at Nanavati Hospital. "The physical as well as mental milestones of the child will regress if she has been diagnosed with leukodystrophy, because it affects the central nervous system."

Vithu Mauli Charitable Trust, which helped the family bring the child to Mumbai, had first learnt about her condition on December 16, 2020. Sita Ghatal, the in-charge of the trust that provides free medical care to malnourished children and their mothers, said Archana was healthy when she met her in November 2019.

"Her health started deteriorating during the lockdown. When we visited her in December last year, her parents told us that the anganwadi workers wanted to get her admitted to a hospital, but couldn't arrange a vehicle," Ghatal said. "Her parents, daily wage workers, were out of work during the lockdown and didn't have money. So even they couldn't afford to travel to the hospital, which is nearly 35 km away," she added.

Ghatal admitted the girl to Patangshah Cottage Hospital in Jawhar, where doctors referred her to Sion hospital. Cottage Hospital Dean Dr Ramdas Marad said, "The girl was admitted with severe pneumonia with delayed motor and mental milestones." Her father Krushna Bhore said, "The government was giving us food during the lockdown, but I don't know how she became so weak."