Mother of 4-year-old with genetic disorder forms support group, connects 30 parents in Mumbai

Pooja Joshi Bhadrige, former banker and founder of the group Angelman Foundation, said her son was diagnosed with the condition when he was nine months old.

A 32-year-old woman from Borivli, whose four-year-old son suffers from a neurological condition called Angelman syndrome, has started a support group for other such parents in the city.

Pooja Joshi Bhadrigewith her son Yug and her husband .

Angelman syndrome is a congenital genetic condition that leads to delayed development, intellectual disabilities, speech impairment and movement problems. Although the exact prevalence of the disorder has not been studied in India, a 2015 review published in Journal of Paediatric Neurosciences revealed that 1 in 20,000 children and young adults suffer from it.

Pooja Joshi Bhadrige, former banker and founder of the group Angelman Foundation, said that her son Yug was diagnosed with the condition in 2014 when he was nine months old.

“Unlike other children his age, at 4 months, he was not able to keep his head upright. These were the first signs which alarmed us,” said Bhadrige. Yug was diagnosed by Dr Anaita Hegde, a city-based neurologist, after the results of a test - comparative genomic hybridisation - confirmed his genomic abnormalities. “The condition is also called the ‘happy puppet’ syndrome because these children have big mouths and laugh a lot, but their movements are imbalanced. Other features include seizures and delayed speech,” Dr Hegde said. Bhadrige performed an exhaustive internet search to look for support groups in India but to no avail. In 2016, she reached out to the Angel Syndrome Foundation in Chicago, seeking guidance to set up a foundation in India. She quit her job around the same time in order to devote more time to the cause.

Bhadrige launched a website to raise awareness about the condition on May 19, 2017. The group has so far connected 30 parents of such children.