A rare disease is any disease that affects a small percentage of the population. Most of them are caused by faulty genes, and are present throughout a person’s entire life. Rare diseases are defined by an extensive diversity of symptoms and signs that vary even from patient to patient suffering the same disease.
Promoting rare diseases as a public health priority is one of the most important objectives that should have the country’s healthcare system. The formation of a more cooperative community of scientists has the ability to improve the discovery of treatments for all diseases more possible.
Diagnosis is difficult. The number of patients available for studies is small and so is the number of scientists to conduct them. In addition, these problems is a lack of interest from the pharmaceutical industry, as the small patient populations would not result in a favorable profit margin, given the costs of clinical development.
From my point of view, it is important to empower those with rare diseases, supplying guidance and support. This is essential for insuring patients can make informed decisions about their conditions. Support can be essential, as few people will be in the same position as each child with a rare disease.
For example, Batten disease is a degenerative disease with no cure. Children affected with this, need empowerment in order to make the most of life as well as assistance is needed for the family looking after the children, as it can be distressing not being able to do anything.
In conclusion, we should care about rare diseases because each person with a rare disease is undoubtedly of value, furthermore because understanding rare conditions develops understanding of human physiology in general.