Rare Diseases and their Unique Challenges

Abstract

By definition, rare diseases affect a very small percentage of the population; however, that fraction still represents a significant 300 million people worldwide. The scarcity of affected patients and knowledgeable clinicians for each rare disease presents multiple unique challenges for all individuals and institutions involved. Clinicians struggle because the rarity of these diseases prohibits easy access to information about symptoms, which leads to delays in accurate diagnosis. Patients struggle with the uncertainty of living with undiagnosed conditions, which can lead to lowered quality of life and an economic burden, as well as anxiety issues and depression. Additionally, researchers and pharmaceutical companies have difficulty finding adequate patients for clinical trials, while dealing with uncertain commercial viability of any treatment. This coupled with the myriad of rare diseases means there is not enough funding for each disease to make significant progress in short amounts of time. The lack of recognition from governments and international organizations until recently slowed any progress made towards rare disease treatment. Solutions to these challenges will require a multi-pronged approach consisting of digital platforms such as patient networks, increased training among physicians, new treatment strategies like precision medicine, government intervention, as well as incentives for companies to invest in rare disease treatment. The key to eventually solving each challenge is awareness of the public and medical community alike.