When we hear of someone suffering from diabetes, we are instantly able to identify the ailment and empathise with that person having to live with the condition. This is essentially because many of us are aware of diabetes either personally or through someone in our family or neighbourhood living with this largely common disease.

On the contrary, how do we react on hearing that someone is afflicted with the ‘Madras motor neuron disease' (MMND)? We might be a bit curious, a bit bewildered or perhaps even be indifferent.

A widely recognised total number of rare diseases and disorders count from the U.S. National Institutes of Health often cited by researchers stands around 7,000. This count is dynamic as more new diseases and disorders are defined each day. These 7,000-odd diseases and disorders individually affect a small population, but which, however, collectively constitutes an estimated 6-8% of the total world population. Therefore, it is not to be assumed that these rare diseases are exotic and that the affected person lives elsewhere. Rare disease sufferers live right in our midst — in our own cities and towns and villages.

Rare diseases and disorders are a spectrum of medical conditions with very different etiologies, the common denominator being the infrequency of their occurrence in the population, with most diseases having no defined diagnostic or treatment protocols.

Taking the lower limit of global prevalence estimate, populous nations like India and China should have more than 70 million rare disease cases each. Despite the number being huge, awareness of rare diseases is largely non-existent in India compared to several developed nations where legal provisions favour rare disease patients.

The U.S. law of 1983, called the Orphan Drug Act, was aimed at encouraging pharmaceutical companies to venture into finding treatment for rare diseases that had been “orphaned” by these firms earlier. This not only led to the development of rare disease drugs but also stimulated various rare disease support groups to highlight their cause to attract the attention of the general public, pharmaceutical companies and their government.

We, in India, are only now hesitantly rising up to the challenge. The existence of a handful of rare disease support groups in urban India and the publication of rare disease case reports in peer reviewed journals by the medical fraternity are encouraging. However, these fall short of their potential due to a lack of common ground — the various support groups working independent of one another and clinicians publishing case reports do not go beyond limited academic circles.

Registries of conclusively diagnosed rare disease patients are needed, as also is gathering of ‘suspected' rare disease patient data. Considering the global rare disease prevalence among 6-8% of population, the rare disease cases in rural India that are almost entirely not enumerated are likely to constitute a majority of rare disease occurrences in the country. India where consanguinity (marriage among close blood relations) is prevalent might harbour unique rare disease cases. But consanguinity is not the lone contributor to rare diseases or disorders. Random gene mutations and other genetic causes could well result in rare diseases and disorders in non-consanguineous marriages.

It is challenging for any medical professional to positively identify rare diseases of their patients. Paediatricians and general physicians are more likely than other specialists to encounter rare disease patients. The lag period (time interval between the onset of symptoms and diagnosis) is usually protracted. Rare disease patients usually start with treatment for their symptoms and only when those treatments become refractory would physicians begin to explore other options, thus causing an inevitable delay in diagnosis.

The Indian government's resources are spent dealing with more compelling health issues such as vaccination, disease epidemics, maternal and infant mortalities and cancer. Thanks to specific laws, infectious menaces like leprosy and tuberculosis receive special attention from the government. Considering the government's priority to more demanding health issues, its attention to the nebulous rare diseases area, barring a handful of rare diseases, is non-existent. In such circumstances, scientists, clinical practitioners, pharmaceutical companies and most importantly non-governmental organisations including disease support groups should contribute and pool resources, however small, to highlight the general issues of rare diseases.

Rare Disease Day is observed on the last day of February. It was first organised in Europe on February 29, 2008 by EURORDIS (a non-governmental alliance of rare disease patient organisations and individuals in Europe). It has since been joined by the U.S. NORD (a non-profit, National Organisation for Rare Disorders) and NGOs from several other countries including India.

No tangible impact

The major impact of Rare Disease Day observance in India is the quantum of awareness it creates, especially in urban areas. However, it is a matter of concern that these occasions meant to build awareness have not yet made any tangible impact on rural rare disease masses. The large number of educated youth in India when appropriately initiated and made to join hands with NGOs working for the rare diseases cause will be able to make the consequences palpable sooner rather than latter.

(The writer is Director, Foundation for Research of Rare Diseases and Disorders. His email is: dnavaneetham@ rarediseasesindia.org)

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