With the aim of spreading awareness among people about rare genetic disorders such as Pompe, the Pompe Foundation urged the government to provide financial support to the affected, on the occasion of World Pompe Day here on Saturday.
Pompe Disease, one the 45 rare genetic inherited disorders, afflicts one out of 40,000 people and an estimated 5,000 to 10,000 people are affected by this disorder worldwide.
The Lysosomal Storage Disorders Supporting Society (LSDSS) held a workshop here to educate doctors, patients and caretakers about this life-threatening disorder. Categorised as a Lysosomal Storage Disorder (LSD), this disease is also known as Glycogen Storage Disease. It is caused by a deficiency or absence of an enzyme in the cells. Characterised by muscle weakness, the condition can be life-threatening if breathing and heart muscles are affected, and the treatment for this will cost any where between `80 lakh to Rs 1 crore in India.
Dr Meenakshi Bhat, Consultant in Clinical Genetics, Centre for Human Genetics, said: “It is imperative to create awareness about Pompe Disease. Low awareness, among medical practitioners, is the main cause of delay in diagnosis and treatment. Government support is essential in financing the treatment of this disease, as the treatment for the disease is the costliest under LSDs.”