With May 15 being observed as the International MPS (Mucopolysaccharidoses) Awareness Day, physicians tried to spread awareness about this group of rare genetic diseases in the city.
MPS is a group of genetic conditions wherein the absence or deficiency of an enzyme causes many problems, including developmental delays and retardation. The disease is estimated to occur only in about one of every 25,000 births.
Speaking on the occasion, Manjit Singh, Treasurer of LSD Support Society (LSDSS), said, “The aim of LSDSS is to create a strong voice for children in India suffering from LSDs (lysosomal storage disorders), MPS and other genetic diseases. MPS is part of LSDs — a group of rare inherited disorders that result from defects in lysosomal function.”
“Although early diagnosis and treatment may help afflicted children recover and lead a near-normal life. Lack of early diagnosis of disorder and prohibitive cost of ERT (Enzyme Replacement Therapy) affects the children due to severity and mutation of the Gene and leads to damage to the body organs.
“Delay in treatment could then result in early demise of the suffering child. The Government could play a crucial role in spreading awareness about the disorder and also help patients in accessing treatment facilities under the fundamental right to health & life.”
Dr Kaushik Mandal, Consultant, Medical Genetics Rabindranath Tagore International Institute of Cardiac Sciences (RTIICS), Kolkata, said: “Being rare with protean manifestations, the awareness for MPS is low even among medical practitioners who are not familiar with its symptoms. In many cases, they attribute the problem to other disorders, resulting in crucial delays in diagnosis and management of patients.
“Lack of awareness needs to be overcome to ensure patient health and well-being. We counsel families who have one child with MPS about pre-natal genetic diagnostic tests to prevent the birth of more affected babies.”
S.K. Dua, the father of young MPS patients, Mayank and Latika Dua, narrated his story, “It was heart-wrenching when my children were diagnosed with MPS I. Initially I despaired on knowing that MPS is a life-threatening disease.
“But the support of doctors and timely treatment with Enzyme Replacement Therapy (yes the patients are getting ERT) has helped our family overcome this ordeal. It is now my responsibility to educate parents like us who are unaware of the disease and its effects.”