Parents of children with disability learn to battle against odds and give their children the best, said Surekha Ramachandran, director of Down Syndrome Federation of India.
Caring for children with multiple disabilities is challenging and their sufferings create a platform for parents to learn about the disease too, she said at the inaugural of the VHS’s Centre of Excellence for Rare Disorders.
She recalled her experience with her daughter who was born with multiple challenges. The trauma that her child went through left her scarred for life. “We are a frightened population because we don’t know what the medical field has for us,” she said, empathising with parents with children having lysosomal storage diseases.
Education programme
“The centre will be a one-stop centre to offer multispecialty facilities with doctors coming to the hospital to treat children with rare diseases,” said VHS’s secretary S. Suresh.
Sujatha Jagadeesh, head of the Department of Clinical Genetics, MediScan, said the fundamental diagnosis of children with rare diseases was a challenge and required multispecialty care.
At the Institute of Child Health, which observed Rare Diseases Day, a continuing medical education programme, was held.
At ICH, 32 children have been identified in the last one year with having lysosomal storage disease. “Patients suffering from rare diseases, especially LSDs, often lead a very incapacitating life. They are primarily caused by dysfunctional enzymes. These disorders are often chronic and severely hamper the quality of life of a patient. Fortunately, treatment is available for some of the LSDs, which have significantly improved the patients’ condition,” said institute director A.T. Arasar Seeralar.
Expensive treatment
Rema Chandramohan, paediatrics professor, said: “Lysosomal are found in cells and supposed to break down carbohydrates but in some children, and the toxic substances accumulate in various organs. Depending on the enzymes deficiency, the heart, liver, spleen or the brain could be affected. The only treatment currently available is enzyme replacement therapy, which could cost lakhs of rupees per session.”
The ICH is trying to identify companies to tie up with to offer life-long treatment to the affected children, Dr. Rema said.
