Caring for People Suffering From Rare Diseases
Posted 1 month ago
Not all diseases get the attention they deserve in finding a cure for various ailments. While the spotlight often shines on more common illnesses, a group of conditions affect a much smaller portion of the population but carry equally, if not more, severe consequences. These are rare diseases. Though statistically rare, these illnesses represent a profound challenge for patients, healthcare systems, and research institutions across the globe.
A rare disease is defined differently depending on where you are. In the United States, the National Organization for Rare Diseases classifies a rare disease as affecting fewer than 2,000 Americans. According to their estimates, 30 million Americans are living with these conditions. Globally, the World Health Organization (WHO) broadens the definition to include any disease that affects 1 in 2,000 people within a WHO region. By this measure, over 300 million people worldwide live with one of approximately 5,500 rare diseases.
Despite the numbers, healthcare systems often overlook rare diseases, mainly because they don’t affect as many people as more common illnesses. However, the impact of these diseases is staggering. Consider this: 30% of children with rare diseases will die before reaching the age of five. To make matters worse, 95% of rare diseases currently have no effective treatments, and diagnosing these conditions takes an average of four and a half years. Most of these diseases >80% are genetic, meaning that specialized treatments and therapies must be developed to address them. These treatments, when they exist, are often inaccessible or unaffordable for many, making the need for global coordination and support even more pressing.
Thankfully, efforts to change this reality are underway. In partnership with the WHO, the Global Network for Rare Diseases aims to create a global network centered on improving the healthcare provided to those living with rare diseases. In 2019, Rare Diseases International (RDI) signed a Memorandum of Understanding with the WHO, marking a commitment to advancing policies and healthcare systems that can better address the needs of rare disease patients. This partnership focuses on treatment and promoting universal health coverage - a vision in which everyone can access the care they need, including those with rare conditions.
In Europe, EURORDIS, a patient-led non-governmental organization, advocates similar changes. With over 1,000 organizations representing rare disease patients across 74 countries, EURORDIS is supported by the European Union’s Health Programme and several donors. Their mission is clear: to unite European patient groups, amplify their voices, and create a better healthcare environment for rare diseases.
Rare diseases take many forms, from Leishmaniasis, a parasitic infection, to Tay-Sachs, a devastating genetic disorder, and Hemophilia, a condition that impairs blood clotting. Each requires a unique approach to treatment and care, and for many, the available options remain frustratingly limited.
One of the biggest challenges in combating rare diseases is their correct diagnosis. Early and precise diagnosis is often out of reach, especially in areas with limited healthcare resources. There is also a pressing need for better public education so that people understand these diseases and recognize their symptoms earlier. Equally important is making treatments affordable and integrating rare disease management into broader healthcare frameworks. Specialized schooling opportunities are also essential for young patients, who deserve the same opportunities as their peers but often face significant obstacles due to their conditions.
Addressing rare diseases requires more than just medical expertise; it requires a global effort to increase awareness, foster early diagnosis, and promote the development of personalized medicines. The efforts of organizations like the Global Network for Rare Diseases and EURORDIS, including WHO, represent a critical step forward, but much more work remains to be done. We must continue to push for better healthcare for the millions of people living with rare diseases worldwide because every life, no matter how rare, is worth fighting for.
Now is the time to take action, raise awareness, and give hope to those with rare diseases.
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