Rare Disease Day: Awareness and support is the need of the hour

Today, is a day to strengthen, give hopes and extend a helping hand to a large number of people all over the world who are suffering due to any of the identified 7,000 rare diseases. To raise awareness on rare disease and improve access to treatment and medical representation for individuals with rare disease, the last day of February is being observed as the ‘Rare Disease Day’ since 2008.

There are large number of people who are suffering due to various life threatening diseases like AIDS and Cancer. There are days dedicated for such diseases and various organisations and experts conduct various activities to help these patients and to spread awareness. But the world is not suffering with the only identified major disease and illness.There are many lesser known, hazardous diseases in the world, identified as rare diseases.

Rare diseases are generally defined as a disease that affects a small percentage of population in a given area. Most of the rare disease is identified to be genetic. Thus they appear and are seen in a person for the entire life span. Many rare diseases appear in the early years of one’s life. It is estimated that about 30% of the children having these disease die before the age of five! This is how rare diseases are affecting the mankind.

A rare disease not necessarily is a rare disease in all parts of the world. A disease, which might be rare at one place, may be common in another region. There are no clear norms or cutoff number provided to call a disease rare. The United States has said that any disease which can be seen in 2 lakh or lesser patients or any disease that is seen in one among the 1,500 people is a rare disease in the US. Japan considers any disease as rare if it prevails in less than 50,000 patients in Japan.

The European Organisation for Rare Diseases (EURORDIS) has stated that there are 5,000 to 7,000 rare diseases identified so far. Unfortunately, out of these 7,000 rare diseases, only 400 diseases have got therapies that can help the patient.Interestingly, ribose 5 phosphate isomerace deficiency is a rare disease, having only one patient diagnosed, is considered as the rarest of the rare diseases!

In India, it is estimated that 70 million suffer from rare disorders. To be clear, one in 20 Indians are hit by rare disease. Out of this 70 million, 3.7 million patients are from Karnataka. The prevalence of rare diseases are much higher in India compared with Western countries due to consanguineous marriages, researches have proved.

Among the rare diseases, most common are Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.

Though rare diseases are chronic, and some even life threatening, the rarities of the rare diseases have made it difficult to create awareness among the public. As the patients who suffer due to various rare diseases spread across various parts of the globe, it is difficult to get them together. The Rare Disease Day is observed on the last day of February to make everyone aware of the impact the diseases pose to the mankind.

It doesn’t mean that the people with rare diseases cannot cope up with life and cannot achieve things in life. SarthakKamath, a patient having Duchenne Muscular Dystrophy (DMD) went on to become a Doctor and entered his name in the Limca book of world records! Diagnosed with DMD at age 12, Kamath has been wheelchair-bound for half his life. Though there is no cure for the disease, Kamath showed that with will power one can scale new heights despite of the illness.

The theme for the Rare Disease Day 2017 is, ‘Research’. To battle out the rare diseases, research in the field is important. As no one can provide a solution for the rare disease, the day gives an opportunity to call upon the researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community. May this be the beginning of the advanced researches, resulting in solutions to the diseases as soon as possible.

By Dr B H Manjunath

(The writer is president, Mysore City (District) BJP)

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