Pro-active steps needed to tackle rare diseases

Three years back, five-year-old Govind had no hope in life. He could not play or run like other kids, his neck muscles were weak, he could not climb stairs and was frequently troubled with respiratory infections.

This cute, lovable boy from a middle-class family suffered from Pompe Disease, also known as Glycogen Storage Disease Type II, a disease so rare it occurs in only 1 in 60,000 to 1,40,000 children.  Its treatment is prohibitively expensive and needs to be taken life-long.

Today, however, Govind leads a transformed life. The smile is back on his face, and he attends school like any other normal child. Govind, however, is one of the few lucky ones as his father is getting him treated free of cost under the compassionate access programme of an international company. However, there are hundreds of children like him in India, living painful, crippled lives, battling with rare diseases.

Most of us are familiar with common health conditions like diabetes, cancer and tuberculosis, but hardly anyone, beyond a small circle of doctors, knows about a group of diseases which remain in the shadows but is much deadlier. About 7,000 to 8,000 diseases in this world are so rare and the number of patients so small, they are called “orphan diseases” because drug companies could not be bothered to research their treatment. Rare diseases have genetic causes and appear early in childhood. They are life-threatening and chronically debilitating. Their patients live right in our midst but go unnoticed because most people – including doctors – cannot relate to them.

Create awareness

Treatment now exists for 6 of a group of 50 rare diseases called Lysosomal storage diseases (LSDs), including Gaucher's, Anderson-Fabry, MPS (Mucopolysaccharidosis), and Pompe. These mainly affect children, many of whom die young. Symptoms include changes in facial appearance, respiratory and cardiac problems, mental retardation, enlarged liver and spleen, and lack of speaking and learning skills.

LSDs affect only 1 in 5,000 live births. In India, about 300 to 400 children have been diagnosed with some form of treatable LSD. They face huge challenges as there is not much awareness about these diseases, even among doctors. In the absence of correct diagnosis, most patients continue to take inappropriate medications or are prescribed medicines for only superficial symptoms. LSDs are treated with enzyme replacement therapy (ERT) which costs Rs 50 lakh to Rs 1 crore per patient per year. Obviously, few can afford this kind of expense in India. Consequently, they and their parents helplessly watch their bodies deteriorate, leading to early mortality. The big challenge is to create awareness about these diseases in the society.

The recent trend of observing Rare Diseases Day on February 28 every year is commendable. Only when the masses and doctors become aware about LSDs can these disorders be properly understood and handled. There is also a need to extend awareness about rare diseases to the rural areas – where most of the cases occur –by involving NGOs and government healthcare institutions. We need more doctors specialising in rare diseases to offer patients proper care. Practicing doctors, especially pediatricians and general physicians, lack training to identify rare diseases. There has to be improved networking and sharing of information among medical experts and test centres.

Patients with LSDs need urgent support of the society and government because of the huge financial and emotional burden that rare diseases impose on them. The Delhi-based Lysosomal Storage Disorders Support Society (LSDSS) with chapters all across India is currently the only support group active in this field. It is headed by a group of parents of LSD patients. Cost is a big obstacle in treatment. There is hardly anyone in the country, even from the rich classes, who can afford to spend Rs 5-15 lakh a month for ERT. If these patients have to be rescued, there is no other long-term option than government support, like in many other countries around the world. Currently, a US multinational specialising in rare diseases is giving treatment to 100 LSD patients in India free of charge as part of its CSR programme, but this is not a long-term solution. The entire society cannot
depend on private philanthropy to combat a burning societal issue.

Coordinating efforts

The government needs to set up a separate body to coordinate the efforts of NGOs, doctors and pharma companies to lead the initiative against rare diseases. It also has to pass a law on the lines of the Orphan Drug Act of the US to incentivise drug manufacturers. A national registry of diagnosed and suspected patients needs to be maintained, with special focus on vulnerable groups where marriages amongst relatives are prevalent. Parent support groups and helplines need to be established. Most important of all, the government needs to put aside some funds in the budget to subsidise the treatment of rare disease patients. In the absence of such a supporting framework, they face the prospects of a steady degeneration of their bodily functions and an early death.

The number of patients with rare diseases in the country are rapidly increasing. Since these disorders are rare and the patients few in number, the sufferers and their families face hurdles in locating healthcare facilities and support centres that could address their ailments. There is a need to spread awareness about the disease among patient organisations, health professionals, researchers, public health entities, policy makers and the society at large. India needs laws and support network to provide relief to patients of rare diseases who face an uncertain future and certain death.

(The writer is Consultant in Clinical Genetics, Centre for Human Genetics, Bangalore)