Lysosomal Storage Disorders Support Society (LSDSS), Delhi has conducted a workshop on mucopolysaccharidoses (MPS) to educate the public regarding the life-threatening rare genetic disorder to commemorate 6th annual International MPS Awareness Day.

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.

Patients and their families along with the doctors working in the genetic and paediatric departments of reputed Delhi hospitals gathered at Maulana Azad Medical College to spread awareness about the disease among patient organizations, health professionals, researchers, public health entities and individuals who are unaware of this life-threatening disorder.

Speaking on the occasion, Manjit Singh, treasurer and state co-ordinator, Delhi, 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 & 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 & mutation of the Gene & 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 Ratna Dua Puri, senior consultant at the Centre of Medical Genetics, Sir Ganga Ram Hosptial, New Delhi, 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 treatment of patients. Lack of awareness needs to be overcome to ensure patient health and wellbeing. 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.”

Since these disorders are rare and the patients few in number, MPS sufferers and their families face hurdles in locating healthcare facilities and support centres that could address their ailment. The Government could therefore consider some scheme to provide free treatment for patients with such disorders.

The LSD Support Society (LSDSS) is a group comprising people — patients, families and caregivers — who know what it’s like to live with LSDs. It also strives to provide information and support to all patients, their families and others with interests in related diseases.