CHENNAI: Experts and parents in the city came together on Saturday to raise awareness on a group of rare inherited metabolic disorders that could affect children. This group of 40 rare disorders is known as Lysosomal Storage Diseases (LSD) and need to be diagnosed early to ensure that affected children can avail timely treatment.
LSDs are linked to a malfunction of the lysome, an organelle in the cell. The lysome is responsible for processing the cell’s unwanted materials through enzymes and turning them into substances that the cell can utilise. When due to gene mutations, there is too little or an absence of the enzymes, the “waste” materials in the cells accumulate, causing multiple health complications.
Symptoms of LSD include development delays, dementia, deafness, seizures, enlarged liver, cardiac problems, abnormal bone growth and/or blindness. Out of the 40 disorders that constitute LSD, only six are treatable.
Speaking at the press conference, president of the Lysosomal Storage Disease Support Society, Praveen Kumar Shirol, said early diagnosis through screening programmes could help parents access treatment in time for the treatable LSDs.
Shirol said the State and Central governments should devise a sustainable healthcare model for LSD patients in India. He asserted the need to develop rehabilitation programmes to support the patients.
Dr Sujatha Jagadeesh, Clinical Geneticist, Fetal Care Research Foundation, said the high cost of enzyme replacement therapy that is used to control the progress of the treatable diseases posed a major barrier to the parents of LSD-affected children. “Enzyme replacement therapy will cost about Rs 15 lakh to Rs 35 lakh a year. And this is apart from the other expenses that the parents incur in monitoring the progress of the disease through surgery or support the children who are wheelchair-bound,” she said
Actor Karthi Shivakumar, who was announced as the ambassador for the condition, said lack of awareness was a reason for delayed treatment. Dr Sujatha stressed the need for prenatal diagnosis and continuous monitoring of complications that arise from the disease. “There is a 25 per cent chance of recurrence of the disease in the second pregnancy since it is an inherited disorder so it is important to detect the risks using prenatal diagnosis,” she said.