Nagpur College of Pharmacy, Wanadongri, Hingna Road, Nagpur, Maharashtra, India - 441110
Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. Living with a rare disease is a challenge and the lack of diagnosis -either because one exists but has not been identified for a particular patient or because the patient has a “syndrome without a name” (SWAN) -is a cause of extreme stress for patients and their families. A recent calculation of the cumulative prevalence at a global level based on the Orphanet epidemiology data file estimates that, regarding the 2017 population, there is a minimum prevalence of 3.5–5.9?fected worldwide. The problem is that each of those patients has a condition that they share with only a small number of individuals locally and sometimes even globally. For this reason, it is difficult to ensure that patients can access the right medical expertise as doctors seldom see such cases, and this fact contributes to a delay in diagnosis. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific therapeutics at the time of diagnosis to avoid that treatment delays add up to the diagnostic odyssey of rare diseases’ patients and their families.
Shweta P. Manapure*, Jayshree R. Khade, Vaibhav P. Uplanchiwar, Vinod M. Thakare, Tamanna B. Barve, Review On : Orphan Diseases And Treatment, Int. J. in Pharm. Sci., 2023, Vol 1, Issue 5, 248-256. https://doi.org/10.5281/zenodo.7955377