JOIN USDr Meenakshi Bhat, consultant in clinical genetics, Centre for Human Genetics, has made out a case for creating awareness among the public as well as medical fraternity about Pompe disease.
Participating in a workshop on the disease held here, Dr Bhat said: “It is imperative to create awareness about Pompe disease, a rare but debilitating medical condition. Low awareness, even among medical practitioners, is the main cause of delay in diagnosis and treatment. Government support is essential in financing the treatment of diseases such as Pompe. As only few patients are suffering from the disorder in the State, the government can bear the medical expenses of the patients.”
The workshop to mark Pompe Day was organised by Prasanna Kumar Shirol, founder of Lysosomal Storage Disorder Support Society (LSDSS) and Pompe Foundation. The sufferings of his 14-year-old daughter Nidhi Shirol, a victim of Pompe disease since 2007, prompted Shirol to set up LSDSS and Pompe Foundation, two and a half years ago.
Shirol said that in September 2007, his daughter developed severe pneumonia and required ventilator support, since she was suffering from respiratory complications which later aggravated. She had to undergo tracheotomy (surgical insertion of permanent breathing pipe).
Subsequently, she developed severe muscular and neurological complications. After protracted consultations with a number of doctors from various specialities, she was diagnosed as suffering from Pompe disease, he explained. Categorised as a Lysosomal Storage Disorder, Pompe disease is one of about 45 rare inherited disorders. “This not our plight alone. There are two other Pompe patients in Karnataka. I spend Rs 30,000 to 40,000 for my daughter’s supportive care every month. The treatment for Pompe disease is enzyme replacement therapy which costs around Rs 85 lakh every year,” Shirol said.