There are around 10,000 known genetic disorders and with the advancements in genetic testing, many more genetic disorders are coming to the fore and patients are getting the right medical advice and treatment.
The incidence of individual genetic disorders is rare but collectively, there are over 300 million patients living around the world with an undiagnosed genetic disorder. Most countries define rare diseases in context to their own population, health care system and resources. Many times, it is also defined in absolute terms or in terms of prevalence per 100,000 people. But when we flip the same definition the other way around and ask those living/suffering with the condition we realize how frustrating to live with these conditions can be. Many describe the battle on two fronts “one is not knowing what exactly is wrong and second is dealing with a world where very few people understand what you are up against”. Several others describe it as a “Lifelong detective mission”.