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Why Rare Diseases?

Publication date: 5 Dec 2023

For rare diseases, the chances of any one person having a diagnosed rare disease is very small. Consequently, most people may not think of rare diseases as being a major health problem. However, according to Global Genes, there are collectively about 10,000 known rare diseases that affect over 400,000,000 people worldwide. The chances that you or someone you know has a rare disease is estimated to be about 1 in 10, making it an issue worthy of attention. Keeping a broad perspective may be essential in building awareness and driving progress towards better diagnosis, patient care, and therapies. While disease-specific patient groups are very important, the combined voices of “umbrella” groups, advocating for rare diseases as a whole, have a role to play in amplifying the needs of all rare disease patients. Rare disease awareness goes beyond the medical implications– it is important to understand the critical needs experienced by patients and their families as they navigate their rare disease journey.

What are some of the most critical needs? Here are a few:

Diagnosis– finding out what one has and validating that it is a rare disease. While this is not always possible, having a named disease opens many doors including medical understanding, potential therapies, insurance coverage and finding others with the same condition. 

Access to appropriate care– finding knowledgeable medical professionals, identifying and supporting caregivers, and if necessary, long-term care options.

Securing financial support– not everyone has universal health insurance. Getting insurance to cover expenses, locating government and private aid resources, navigating the application process, coordinating payers and providers, defining a path forward if funds run out, and addressing inequalities in underdeveloped countries are among the challenges.

Finding clinical studies– learning about available studies and enrollment, becoming aware of patient health and privacy protections, dealing with regulatory and legal considerations, and understanding the double-blinded study comparison method which requires that some participants get a placebo therapy.

Overcoming pain and physical disabilities– coping with disease symptoms and side effects of treatments, dealing with physical disfigurements, and maintaining good mental health.

Outreach and sharing information– connecting with other patients for social support, overcoming isolation, sharing collective knowledge, joining advocacy efforts, and using internet resources. 

A broad-based rare disease strategy may be a key to progress in all of these areas. The fact that rare diseases span the globe irrespective of political boundaries, ethnicity, and wealth, makes the goal of improving lives of rare disease patients an universal challenge. Collaborative action among multiple stakeholders, including patients, care providers, medical professionals, researchers, pharmaceutical companies and governmental agencies is essential.

Sometimes, it seems that hope for the future is all there ever is for many rare diseases. Has there been any real progress in the past decade? The answer is a resounding yes. Here are some examples:

Genomic sequencing– due to advances in technology, this previously very expensive undertaking has become affordable and accessible in developed countries enabling clear diagnoses for many patients;  currently, the cost can often be covered by health insurance;  identifying diseases associated with specific genetic variants has grown enormously, although a great many rare diseases still have no definitive cause.

Understanding of rare disease biology– mechanisms behind many rare disorders have been uncovered, often from observing the effects of genetic variants;  this has opened the door to development of more targeted therapies. 

Advances in therapeutic options– genetic therapies, once only hypothetical, are finding their way into patients. Some of these therapies, such as for Sickle Cell Disease, hint at the potential of a long term cure. Advances in stem cell or organ transplant treatments offer similar potential, and targeted immunotherapies have been implemented for some diseases. Meanwhile, new or repurposed drugs are continually being discovered for specific rare conditions. As each of these therapeutic approaches becomes more established, it opens the door to applying the same technology to treat other diseases.  

Growing public awareness of rare diseases through the news media and internet resources has triggered greater governmental and political awareness, leading to increased willpower to take action, such as providing more funding, and moving the legal and regulatory landscape to become more supportive.

There are many reasons for optimism in the world of rare diseases entering into a new year. Focusing on the broader goal of making life better for all patients can help incentivize advancements for individual rare diseases. Let’s keep forging ahead.