As the name suggests rare diseases are those which occur less frequently than other diseases. Not many people have heard of these diseases. These diseases are untreatable.
There are more than 17000 rare diseases all over the world and India is one of the worst affected countries. Most Rare Diseases are serious, chronic and progressive in nature.
Right now, there are no clinics in India that give an undeniable all-encompassing treatment for Rare Disease patients. People living with rare diseases don’t have access to hereditary advisors.
There are a couple of Hospitals in India that have been recorded as of late in the NPRD draft. According to the rundown, the Government has advised eight communities for the consideration of Rare Diseases. In any case, these are not adequate; a large portion of them are in Northern pieces of India and don’t uphold India.
The difficulties faced by individuals with Rare Diseases and their Families consistently are difficult to depict. They have rely upon different variables phase of finding, financial status, treatment choices, palliative consideration, and so forth.
There are rare diseases that occur suddenly and people do not even get to understand them such as Pompe Disease which affects the respiratory system right away. In DMD, patients begin losing versatility after a specific age.
In Cystic Fibrosis, patients face persistent respiratory issues while being invulnerable bargained. There is Hemophilia, Thalassemia, and so on where the patient must be consistently dependent on blood factors.
There are hazardous conditions in LSDs like Gaucher, MPS, where the patient could pass on whenever left untreated. There are sure conditions like IEMs (Inborn Errors of Metabolism) where if new-conceived screening isn’t done, figured dietary mediation doesn’t occur at a previous stage; because of which the kid could go into a mental impediment.
Early and Accurate Diagnosis through New-conceived Screening and Prenatal Tests, Guidance through Genetic Counseling in Pregnancy getting ready for families with a history of Rare Disorders, and early mediations for weakening conditions like DMD to forestall muscle misfortune are a few models through which we can cut down the weight of Rare Diseases.
Dr. Pranay Joshi, Health Specialist states “We are as yet a long ways behind with regards to Rare Diseases. However, the great news is that we are making progress, and the days are too far when Rare is not any rarer”.