Mahalakshmi, a 16-year-old, was diagnosed with a rare condition of Lysosomal Storage Disorder (LSD) when she was just four years old. Her condition Mucopolysaccharidosis type 4B is one among many categories of over 45 ultra-rare disorders that does not have a cure.
Unlike her condition, in India around 500 babies are likely to be affected every year by treatable LSDs. Currently, enzyme replacement therapy (ERT) for six of LSDs — Gaucher, Fabry’s disease, Pompe disease, MPS I (Hurler disease), MPS II (Hunter disease) and MPS VI are available.
After the Lysosomal Storage Disorders Support Society, India (LSDSS) filed an application with the state government to provide free treatment to patients in Tamil Nadu suffering from Gaucher, Pompe and MPS disorders, the Institute of Child Health, Chennai, constituted a medical board that recommended treatment by means of ERT to 4-year-old Kaviyan Senthil, a patient suffering from MPS-I.
Dr Sujatha Jagadeesh, HoD, Clinical Genetics, Mediscan, explains, “LSDs are caused by deficiency of specific enzymes in special compartments of the cells. These deficiencies cause material to be inappropriately stored in these special compartments. Depending on which organ is affected, the symptoms manifest.”
The developmental delay, movement disorders, seizures, dementia, deafness, enlarged liver, pulmonary and cardiac problems, and bones that grow abnormally are some symptoms of LSD.
“Around 500 families have so far approached us for care,” informs the doctor. With an average of 15,000 children across India affected by the LSDs, the doctor reveals that due to less reach, only 600 have been enrolled for treatment and care. With LSDs occurring in about one in 5,000 live births, the incidence of treatable LSDs range from 1 in 30,000 to 1 in 400,000 births.
“Patients with LSD need lifelong medical attention and that is why we need support from government,” says Manjit Singh, president of LSDSS.
With cost of treatment being high, (`2-3 lakh per month), most patients cannot afford it. Prenatal diagnosis is being preferred by most women these days to identify the disease at fetus level.
“Centres with prenatal pathology and genetics to identify the problem at the fetus level should be certified,” he says. Currently, there are 10 centres of excellence in India for treating LSDs, and eight centers that have diagnostic capabilities.