Experts laud Karnataka govt’s timely initiatives for rare diseases patients

New Delhi: Understanding the growing disease burden of Pompe across countries, leading experts laid emphasis on the need for timely diagnosis and continuous treatment for patients suffering from rare diseases. Pompe is a type of Lysosomal Storage Disorder (LSD) and Limb-Girdle Muscular Dystrophy (LGMD) which are groups of genetic rare disorders.

Since health is a state subject, the Government of Karnataka is one such state that has taken a noble initiative to address the treatment needs of rare disease patients, say experts. Karnataka government has been providing treatment to adult-onset Pompe patients and Gaucher patients since 2016.

Commenting on the condition Dr Meenakshi Bhat, Clinical Geneticist, Centre for Human Genetics (CHG) said, “Pompe disease is a rare genetic disorder which affects the heart and other muscles. This disease belongs to a group of diseases called lysosomal storage disorders (LSDs) and is caused by the lack of an enzyme in the body. This enzyme can be given as treatment as IV injection every two weeks. The disease has a huge variability and can affect young babies in some cases and older children or adults in others. Early treatment with enzyme replacement therapy is life saving and can improve most symptoms. However, the treatment is very expensive and has to be given life – long after commencement.”

“My fight with the rare diseases has continued for over 20 years now. I have seen timely treatment making a great deal of difference in my daughter’s life and many other patients. The initiative taken by the Karnataka government speaks for itself on their dedication towards the state people. I applaud the Government of Karnataka in recognizing rare diseases a public health priority facilitating accessible treatment for all” said Prasanna Kumar B Shirol, Co-founder and Executive Director, ORDI.

The other states should follow Karnataka government in their duty towards addressing the needs of rare disease patients. The need of the hour for these rare disease patients is that they receive continuous treatment and support from the government.