Six-year-old Brithi, who was born premature weighing 2.2 kg, did not cry at birth. While her parents Laxman K.R. and Sushmita got worried when doctors told them she had to be admitted in the neonatal ICU for a week, little did they realise that she would be diagnosed with a rare disease.
Brithi was diagnosed with Prader-Willi Syndrome (PWS) at the age of two-and-a-half at the State-run Indira Gandhi Institute of Child Health (IGICH).
She is the 100th patient with a rare disease to be enrolled at the Centre for Human Genetics (CHG) and IGICH, which is the Centre of Excellence for Rare Diseases (COERD) in Karnataka. These 100 beneficiaries till August 2023 are being provided treatment under the Centre’s National Policy for Rare Diseases 2021 (NPRD 21). This is the first COERD among the 11 such centres in the country to achieve this landmark since the announcement of NPRD 21.
