February 28 is observed as Rare Diseases Day worldwide in support of millions of patients suffering from various kinds of debilitating medical conditions with hardly any approved medicines or cure available for treatment. Among these groups of patients are a large number of babies and children with serious genetic disorders. In India alone, there are over 70 million patients suffering from an estimated 7000 rare diseases. There is no effective treatment available for more than 90 per cent of these diseases and the patients have to depend only on supportive therapy. Lysosomal storage disorders (LSD) are a group of over 45 rare genetic disorders that occur due to the deficiency of specific enzymes in special compartments (lysosomes) of cells. LSDs occur in about one in 5,000 live births. A majority of LSDs are managed through supportive care measures that are disease specific. Whereas, six of the LSDs can now be treated by means of Enzyme Replacement Therapies (ERTs). India currently has about 300-400 patients, who have been diagnosed with treatable LSDs. Essential Thrombocythemia (ET) is another rare but serious bone marrow disease, characterized by a significantly elevated blood platelet count. This considerably increases the risk of suffering a blood clot or bleeding. In cases of ET where the thrombocytes only function to a limited extent and patients suffer from bleeding in the nose, mouth, stomach and intestines. Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is yet another debilitating auto immune disorder affecting quite a few Indians making their lives a constant struggle and suffering.

Patients suffering from rare diseases do have a right to benefit from new medicines and treatments. But, the dilemma faced by the patients suffering from rare diseases is the remote chance of getting a cure from the pharmaceutical companies. As the number of patients suffering from each of the rare diseases is not large enough, the pharmaceutical companies do not venture into research for such drugs. For them such investments cannot be a viable proposition. In a situation like this only government research bodies, universities and organizations funded by charitable institutions should be expected to get into research for those drugs. How easy and fast such initiatives will materialize is a tough question. Therefore, the government and social organizations have a critical role to play in providing and organizing whatever support these patients require. Apart from early diagnosis, awareness, accessibility and affordability of any treatment options are the key needs of patients suffering from rare diseases. Organisation for Rare Diseases India, EveryLife Foundation for Rare Diseases and Bangalore Hemophilia Society are some of the social bodies in India which have come forward to offer some services to these unfortunate patients. Considering the growing number of these patients in the country, the government has to prepare a complete data base of such persons and work out a strategy to bring some relief to them.

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