How would you feel if you are going through multiple complications in your body and even after undergoing several medical tests for months, sometimes years, the doctors are unable to find the cause of the problem? And when one fine day with all the permutation and combinations the tests do work out in your favour, they inform you about suffering from a medical condition which has no permanent cure but can only be treated to ease your lifestyle. There are nearly 7000 rare diseases enlisted which affect one in a million in the entire population. You will be amazed to know that certain rare diseases affect only 2-5 individuals in the entire world.
Rare disease also known as orphan disease are genetic in nature and affect only a small percentage of population and are mostly present in a person all throughout his life. Sometimes the symptoms do not appear immediately and after multiple misdiagnoses, once the right diagnosis is made, the person has already reached its last stage. The disorders may be different but the pain and trauma shared by every rare disease patient is quite similar. Many a times they never come across individuals suffering from the same disorder, hence it gets difficult for them to share their exact feeling with the ones who have not walked in their shoes.
28th February is regarded as the World Rare Disease Day by EURODIS and Council of National Alliances, Europe and takes place worldwide to spread awareness about the various rare diseases amongst the general public, medical organisations, policy makers and the government. The lack of scientific research and access to proper treatment and care are the major concerns they cover. The treatment for rare disease is ongoing and the medications and the complications are for life long. There are many who lose the battle in between due to high medical bills and no proper research on their condition. World Rare Disease Day encourages medical practitioners, researchers and government to carry out researches to look for possible treatments and cure for such diseases.
When it comes to India, Uttar Pradesh has the maximum number of people affected by rare diseases with the numbers over 1.1 crore. Nearly 1 in 20 Indians are affected by some or the other rare form of disease, many out of which go undiagnosed. Perhaps rare is not that rare. The lack of awareness about these diseases is what makes it more difficult for the patients and their families to sail smoothly.
Sharing my own story, I have been diagnosed with two different types of rare diseases. Just after my school got over, I was diagnosed with Idiopathic Intracranial Hypertension. Though the diagnosis was made well in time and having taken complete precautions and bed-rest for 5 months, I got over it successfully. Little did I know that it was just the beginning of something chronic. After a span of five years, my physical health started deteriorating again and after multiple tests every day, the doctors still couldn’t come to a conclusion. Even after spending 20 days in a medical institution and being made a case study, they finally gave up and asked me to take a transfer to a different medical institution to get better care. Fortunately the diagnosis was made after my transfer but the cause is yet to be found. What I have now is called Budd Chiari Syndrome. Just like any other Rare Disease, this too has no cure but can be treated through therapy, medications and precautions.
There is no doubt that medical science has come a long way but a greater distance is yet to be covered. Every rare disease has multiple variations and affects every individual differently. Hence it is important for institutions to carry out researches to look for common cure. Many patients and their families go through a lot of tough times and trauma while undergoing the treatment and hence proper counselling is important to help the individual get going with his life. Rare Diseases affect almost 60% of children, thus any major symptom should not be ignored and diagnosis should be made as early as possible.
Life is precious and good health is what keeps us going. This World Rare Disease Day, I take up to do my bit in spreading awareness about rare diseases, to let the one in a millions know that there are many out there who know just how it feels like to be one. Let’s all come together and share stories about the brave hearts that we know.