Karnataka High Court issues landmark verdict to opens gates for treating Pompe disease

High Court tells Institute of Child Health to treat a patient of Pompe disease, irrespective of age

BENGALURU: The High Court on Wednesday directed the Indira Gandhi Institute of Child Health (IGICH) to treat a 25-year-old patient, Raghavendra Reddy, suffering from Pompe disease, a rare metabolic disorder.

IGICH is the only hospital in the country to have a rare diseases centre. In an interim order, Justice A S Bopanna said, “Keeping in view the seriousness of the disease from which the son of the petitioner is suffering and also taking note that IGICH has the wherewithal for treating such disease notwithstanding the fact that the son of the petitioner is aged more than 18 years, IGICH is directed to forthwith enrol the petitioner’s son and administer treatment without raising any objections in this regard relating to the age of the petitioner’s son.”

Pompe disease is a metabolic disorder which damages muscle and nerve cells throughout the body. Technically called, Glycogen storage disease type II, it is an autosomal recessive disorder.Prasanna Shirol, Co-Founder, Executive Director, Organization for Rare Diseases India, who helped Raghavendra fight the case, told The New Indian Express, “This is a landmark judgment. With this order copy we can request the state government to release the required funds to IGICH. He needs around Rs 2.25 crore to be treated for a year. In 2016, the state government had released Rs 4 crore to treat 18 children suffering from rare diseases. Now, this will set legal precedence for more patients to be treated.”

Satyanarayana Reddy, father of Raghavendra, is the petitioner in this case. He said, “My son has lost sensation in both his legs. He had to drop out of BCom because of this disease. I earn Rs 10,000 per month, that was barely enough for me to repeatedly travel to Bengaluru from Bagepalli taluk for medical exam of my son. I’m really happy that my son will finally get treatment.”

Pompe disease

Pompe disease is a rare multi-system disorder caused by pathogenic variations in the GAA gene containing the information for production and function of a protein called acid alpha-glucosidase (GAA)
Because of the shortage of this protein (an enzyme) a complex sugar named ‘glycogen’ cannot be degraded to a simple sugar like glucose
This causes the glycogen to accumulate in all kinds of tissues, but primarily in skeletal muscle, smooth muscle and cardiac muscle, where it causes damage to tissue structure and function

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