Dharmendra Kumar was 15-years-old when his knees began to stiffen. Fingers, too, lost their flexibility and started to fold inward from the tips. He was in tenth standard then, and suddenly found it impossible to hold a pen, let alone scrawl across a piece of paper and write. He dropped out of school. That was not a contentious decision. The son of a migrant labourer, eldest among five brothers and sisters, he was hoping to study only for a couple more years. With a salary of Rs 6,000, his father, Ashok Singh, was the only earning member in a family of eight. Dharmendra had to start working soon.
Frantic visits to hospitals in Delhi began. Among others, Dharmendra went to the Sanjay Gandhi Memorial Hospital in Sultanpuri, ESI Hospital in Punjabi Bagh and Lokmanya Jai Prakash Narayan Hospital near the Delhi Gate. But no one was able to diagnose the physiological disorder he was suffering from. Since there was no prescription, the family’s only financial consideration was the money required to visit all these hospitals. It was a worry, but not the kind that required a loan and so he kept going. In 2008, the following year, he reached the All India Institute of Medical Sciences (AIIMS) with his father. After a series of tests, the doctors found that he had Lysosomal Storage Disease (LSD).
LSDs, a list of 45 metabolic disorders, are ultra-rare diseases—afflicting one in a hundred thousand people across the world. Along with all the countries of the European Union, the United States, Canada, Mexico, Australia, Japan, Singapore, Taiwan, Thailand, Malaysia, and South Korea have policies for the treatment of rare diseases at the expense of the state. Neighbouring countries, such as Pakistan, Sri Lanka and the Maldives have also begun financially supporting the patients of these diseases. But in India, as Dharmendra would find out, conditions are not so benign.
Each of these disorders is caused by the deficiency of a specific enzyme in the body. Seven out of the 45 LSD disorders are currently curable by Enzyme Replacement Therapy (ERT). Of these seven, treatment for only four is available in South Asia. Mucopolysaccharidosis Type I (MPS-I), which Dharmendra suffers from, is one of them. It is caused by the lack of alpha-L-iduronidase, an enzyme that catalyses the hydration process in the body cells. The commercial equivalent of iduronidase is a drug named aldurazyme, which is sold by the global pharma giant Genzyme, and has been available in India since 2007. But one vial costs Rs 39,500. Dharmendra required it on a weekly basis for his ERT, which, the doctors said, would “last for years.”
He returned home and effectively put the idea of treatment behind him. This was not a contentious decision either. The treatment required a loan that the family could never avail. For the next two years, Kumar did little else than loiter around the one-room house in the labour colony of Sultanpuri. His fingers still folded; his knees stiffened further. Consistent with the symptoms of MPS-I, and perhaps compounded by the conditions of his neighbourhood, he developed a respiratory problem. The body entered a state of arrested development. De-hydrated due to the missing enzyme, his cornea acquired a smoky glaze. All he saw was fading away.