Battle against rare genetic disorder needs helping hand from govt

Nearly 120 out of 600 identified people in India suffering from Mucopolysaccharidoses (MPS), a rare genetic disorder, receive philanthropic support from multinational pharmaceutical companies.

 The rest pin their hopes on government support for the costly medical intervention. More than 50 patients, their families and doctors came together at AIIMS to observe the International MPS Day. MPS occurs due to specific enzymes deficiency in special compartments of cells. 

Those born with the disorder start to develop disorders such as vision loss, coarse face, enlarged liver and spleen, hearing loss, short stature, joint deformities and abnormally low weight, but some succumb to it. 

Vishnu Prasad Sharma, whose seven-year-old son Daksh has stopped talking and developed joint deformities suffer from Hunter syndrome (MPS-II), one of the seven different types of MPS disease. 

“Doctors have made all parents fill the forms for getting medical aid from Shire Pharmaceuticals Limited. Only 4-5 would be selected for it,” he said.

The enzyme replacement therapy requires intravenous infusion of enzymes to patients at regular intervals for entire life. 

The annual cost of treatment varies from Rs 40 lakh to Rs 1.60 crore depending on the person’s body weight, said Manjit Singh, president and state coordinator for NCR of Delhi of Lysosomal Storage Disorders Support Society (LSDSS). 

He said his society has urged the government to create a corpus fund of Rs 300 crore annually for the diagnosis and treatment of MPS. 

Singh’s sons Anmol, 24 and Prabhmol, 22, suffer from hunter syndrome. Along with 150 such parents, he started LSDSS to create awareness about the disease and to put pressure on the government for assistance. 

“We have been petitioning the government for the last five years,” said Singh, indicating there is no national health policy for persons suffering from the rare genetic disorder.  

Dr A P Dubey, who heads the paediatrics department of Maulana Azad Medical College said some pharmaceutical companies have been treating some of these patients as part of their corporate philanthropy, but majority live in absence of medical help.

In the lecture hall at AIIMS that was filled with noise of more than a dozen young and adolescents with speech and hearing impairments, Vijendra Singh, a farmer from a village near Agra, said local doctors believed that joint deformities have developed in his eight-year-old son Rohit due to lack of calcium. 

He said that inadequate and late diagnosis of the disorder perpetuate the physical ailments. 

Meanwhile, in the noisy lecture room of AIIMS, Sandeep Chaengol and Manorma Chaengol made their way in. “Last year, we had lost our child to MPS. Today is her birthday,” they said.

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