Rare Undiagnosed Day

       

                 Undiagnosed Rare Disease 

Undiagnosed’ refers to a disease for which a diagnostic test isn't however accessible; the disease has not been characterised and the cause isn't however recognized. This patient can also be misdiagnosed as the condition can be mistaken for others. These conditions are too likely to be rare. Rare diseases affect an estimated 2-4% of the population. A likely next step is whole genome sequencing, a diagnostic technique that over the last decade has significantly bolstered the effort to identify undiscovered diseases. A different approach is to search for patients with similar hereditary abnormalities and similar side effects. Determining the cause of a disease is often a victory in its own right for people who’ve spent years trying to figure out what’s wrong with their bodies.

For awareness among people we celebrated Rare undiagnosed Day on April 29^th each year. Its objective: to raise awareness for those living with undiagnosed diseases, and the emotional, physical, and financial impact these diseases have on patients and their families.

Rare diseases provide opportunities to study human physiology and biomedical science from interesting perspectives. Major scientific breakthroughs resulting from investigation of rare diseases have regularly given knowledge into more common disorders. An orphan drug is a medicinal product developed for the treatment of a rare disease. For all rare diseases, science can provide some answers.   Patients, families and organisations are pivotal for making solutions for the day by day challenges of living with a rare disease. It is essential to send a strong message of solidarity to the countless rare disease patients and families throughout the whole world.

Living with an undiagnosed disease is extremely challenging. A critical result of being undiagnosed revolves around the sorrow and push patients and their families’ experience, compounding sentiments of isolation and prohibition that worsen with the chaotic journey through various referrals, examinations, and disease advancements. A diagnosis can serve as the key to opening get to effective medical and social care as well as to treatment. Getting the right and accurate diagnosis, even when there's no treatment, increments openings for patients to plan their future.