Fighting an unusual disorder with extraordinary will

Nidhi Shirol used to be a happy, playful child till she turned seven, and was inflicted with a rare disorder that affects normal life. Shirol is among the nine people in the country suffering from pompe, a condition that causes muscle weakness and breathing difficulty.

Shirol, 9, is currently studying in the fourth grade at Gopalan International School in Whitefield. Her parents, Sharada and Prasanna Shirol, moved to Bangalore from Davangere and have made numerous sacrifices to facilitate their daughter’s treatment.

Sharada Shirol goes to school everyday with Nidhi just to carry her from class to class because it is not convenient to use the wheelchair in the school.

Just what is pompe? Known to afflict one in approximately 40,000 births, pompe is an inherited disorder that leads to progressive muscle weakness. It is caused by a defective gene that results in a deficiency of an enzyme, acid alpha-glucosidase.

The absence of this enzyme results in excessive build-up of a substance called glycogen, a form of sugar that is stored in a specialised compartment of muscle cells throughout the body.

The disease is named after Johann Pompe, who characterised it in 1932. Shirol’s is a very rare case, which required her to be on ventilator support for nearly a year and a half after. 

“Nidhi developed acute pneumonia and acute respiratory distress syndrome (ARDS). We moved from pillar to post for the right diagnosis. After about a year, an expert in genetics from Davangere told us that she was suffering from pompe,” says Prasanna.

The disorder is so rare that when Shirol’s parents take her out for treatment, they end up having to explain the details of pompe to doctors.

“There is acute lack of awareness among the medical fraternity about this disease. I contacted the International Pompe Association and, through them, I could get in touch with the Genzyme Corporation, a pharmaceutical company which sponsors medical aid for patients suffering from different and rare diseases including pompe,” says Prasanna.

More than two years later, Shirol is trying to lead a normal life. Dr IC Verma, director & senior consultant, Center of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi said that Shirol’s damaged muscles can’t be revived.

Painting is her favourite hobby and has given her a new lease of life. “When she was on ventilator for more than a year, she learnt painting. She now does glass paintings too and they are made into greeting cards by Genzyme Corporation,” says Sharada.