MPS, a rare disease with costly cure

Dharmesh, 22, is in 12th grade. He is short for his age and overweight. He looks drained even if he has to take a few steps. It is not because of heat. Dharmesh suffers from a rare disease, called mucopolysaccharidosis (MPS) I. His five-year-old brother, Vijay, also suffers from the same disease. 

MPS is part of a group of 45 rare, genetic disorders called lysosomal storage disorders (LSDs), which is caused by the deficiency of lysosomal enzymes in cells. These enzymes are crucial in building bones, cartilage, tendons, corneas, skin and connective tissues. At least one in every 5,000 children born in the world suffers from LSDs. However, only six of the 45 LSDs are curable, which includes MPS I (Hurler disease), MPS II (Hunter disease), MPS VI (Maroteaux-Lamy syndrome), Gaucher Type I, Fabry’s disease and Pompe disease. The treatment involves expensive enzyme replacement therapy, wherein enzymes are administered to the patient through intravenous infusion at regular intervals for entire life. The treatment cost can vary between Rs 10 lakh and Rs 1.5 crore a year, depending on the patient’s weight and the type of LSD. Besides, as very few people require the treatment, scaling up the treatment becomes a problem for drug companies, making each dose of enzyme replacement expensive. Many patients thus succumb to the disease or are left with disorders like enlarged liver and spleen, vision loss, hearing loss, recurrent ear infections, short stature and joint deformities.

Treatment of Dharmesh and Vijay costs Rs 10-15 lakh per brother per year. Their therapy is being partly funded by the LSD Support Society (LSDSS), a patient support group. But many others are not so lucky. In the last one year, four LSD children died in the country. India currently has 300-400 patients with treatable LSDs. 

“No one can afford this kind of money,” says Ratna Dua Puri, senior consultant, Centre of Medical Genetics, Sir Ganga Ram Hospital in Delhi. The only models that can help LSD patients are either government assistance or insurance claims for the therapy. Taiwan is an example how the government made treatment affordable for LSD patients, she adds. 

In 1999, the Taiwan government implemented Rare Disease Prevention and Orphan Drug Act, which recognised rare disease patients’ rights and directed policies towards disorder treatment and reimbursement from the national health insurance programme. In 2004, it allocated an exclusive budget for the programme. Now, rare diseases are covered in national healthcare, pharmaceutical and other related programmes. 

“It is a genetic disorder. There is 25 per cent chance for a child to be born with LSD if a family member suffers from the same. Pregnant women with such family history can get themselves screened for LSD and opt for abortion if the child suffers from the disorder,” says a senior government doctor on the MPS Day, which is observed worldwide on May 15 every year. 

How India fares

• 300-400 patients suffer from treatable LSDs

• India has 8-10 centres of excellence for the management & treatment of LSDs

• Six-eight centres have diagnostic capabilities

• Around 80 children are currently receiving enzyme replacement therapy under the Charitable Access Program of a US company. 

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