Bengaluru: “We visited over a dozen MLAs, MPs and ministers seeking the restart of rare disease treatment, but our efforts were in vain. Treating Gaucher costs over Rs 3.5 lakh a month,” said Vasanth and Seetharama Shetty, parents of two boys aged 4.5 and 8, at an Organisation of Rare Diseases India (ORDI) event Wednesday.Gaucher is a genetic disorder in which a missing enzyme causes fatty substances to accumulate in the spleen, liver and bones. Vasanth said he even requested health minister Dinesh Gundu Rao to consider mercy killing, calling it “heartbreaking to watch my child suffer.”
Rare disease treatment in Karnataka largely stopped or stalled over the past two years as national funding under the NPRD-2021 did not reach state centres such as Indira Gandhi Institute of Child Health, leaving enzyme replacement therapies discontinued once the Rs 50-lakh per patient cap was exhausted.Aishwarya, an eighth-grade student with Gaucher, said worsening health without treatment kept her out of school, while Revathi, an engineering student with Gaucher, was at risk of dropping out. They both urged the govt to resume treatment, at least for the sake of their education.Dr Meenakshi Bhat, director of the Centre for Human Genetics, said lowering drug costs would take time, but domestic manufacturing and increased gene-therapy funding could accelerate access.ORDI is conducting Racefor7, its annual awareness run on Feb 22, to bring together various stakeholders in solidarity with the rare disease community, expand public understanding, and advocate for improved access to treatment and care.BoxTeen with rare disorder defies oddsAryan V, 17, was diagnosed with Prader–Willi syndrome at the age of five after his parents consulted nearly 50 doctors to understand his constant, uncontrollable hunger. The rare genetic condition causes an insatiable appetite, putting patients at high risk of severe obesity and related complications.To keep him safe, Aryan’s parents lock their kitchen cabinets and refrigerator. He receives a daily injection costing about Rs 1,500 and exercises regularly with his parents. He was also diagnosed with diabetes.Though he could not continue formal schooling after Class 3, his parents ensured he was educated at home. Today, Aryan works part-time at a gym, guiding beginners on equipment use, cardio routines and basic diet practices. Proud of earning on his own, he showed off a gold earring he recently bought with his salary.
