Thousands of children suffer from Pompe, which damages muscle and nerve cells.
Nidhi Shirol has won several accolades for painting. But unlike other children of her age, who may boast of glittering accomplishments, she doesn’t enjoy the luxury of leading a normal life—she is suffering from Pompe, a rare genetic disorder, which has made her wheelchair-bound for the last nine years. Though she manages to attend school during the day, she requires ventilator support every night.
Initially, Nidhi seemed to be normal child. But later, her parents noticed that she was much behind other children of her age in learning to crawl, walk, jump, run and do other activities. “Nidhi was unable to get up and stand on her own. We consulted several doctors, but in vain. After seven years, she was diagnosed with Pompe in Davangere by Dr ML Kulakarni and for the last three years, Nidhi has been on Enzyme Replacement Therapy (ERT),” said Prasanna Shirol, Nidhi’s father and a city-based businessman.
“She is bound to her wheelchair with no friends to play. She is dependent on either her mother or a caretaker for her needs,” Shirol said. Yet, the spirited 12-year-old has taken up the challenge of coping with studies and competing with other normal children. “She has to manage physiotherapy, drugs and exercises along with studies. Even a little exposure to dust results in infection as she underwent a tracheotomy—surgery of the windpipe to unblock air passage,” he said.
Will Nidhi require ERT for the rest of her life? Yes, said Dr Meenakshi Bhat, consultant in clinical genetics at Centre for Human Genetics. Dr Bhat is now treating Nidhi. “Due to a genetic problem, Nidhi’s body is not producing enough Pompe enzyme to keep her muscles strong. If Pompe enzyme is not given through ERT, her muscles will get weaker. So she needs ERT throughout her life to maintain muscle strength. Nidhi will also continue to require ventilator support. As her respiratory muscles are weak, she needs support to help her lungs get enough oxygen when her own muscles are unable to expand due to weakness,” she said.
If the first child is affected by Lysosomal Storage Disorders (LSDs)—which cover around 50 disorders, including Pompe—other children in the family too are at the risk of being born with the same disorder; this risk may be as high as 25% in each subsequent pregnancy.
“Therefore, in such situations, parents must undergo diagnosis though an enzyme analysis or a DNA study. These tests can be done at select centres in India,” Dr Bhat said. “In South India, where marriage between close relatives is common, couples should volunteer for a screening for LSDs, including Pompe,” she said.