World Rare Disease Day is observed on the last day of February each year to raise awareness for the 300 million individuals who are affected by rare diseases worldwide. Alongside the goal of raising awareness, Rare Disease Day advocates for equity in healthcare, social opportunity, therapy, and access to diagnosis for those living with a rare disease. A disease is considered rare if it affects fewer than 1 in 12,000 individuals. Living with a rare disease presents unique challenges to the individuals, families, and caretakers affected by the disease.
Challenges
The challenges faced by those with rare diseases are widespread. One significant challenge accompanying rare disease is the lack of scientific knowledge and research on specific diseases. This often causes a delay in diagnosis or misdiagnosis. The chance of misdiagnosis is increased as common symptoms can hide underlying conditions and rare diseases. In many cases, early and accurate diagnosis is critical to rare disease management, and diagnosis delay can have an adverse effect on the treatment and quality of life of those affected.
Alongside the lack of scientific and medical knowledge on rare diseases, access to proper care can be challenging to access and costly. Due to the rarity of a disease, it is often difficult to locate and access specialists who can provide treatment and care for those afflicted by rare diseases. When care specialists are available, they are often more costly than those specializing in more common diseases. Similarly, rare diseases often require more medical care and ongoing treatment or surgery to treat, only increasing the cost burden on families.
Lastly, due to the characteristics of many rare diseases and difficulties in accessing diagnosis and treatment, many individuals affected by a rare disease suffer from a loss of autonomy as their life often centers around their health challenges. This lack of independence can be attributed to many reasons but is often due to physical disabilities and the rare disease’s chronic, progressive, degenerative, and sometimes life-threatening aspects.
What We Can Do
Those impacted by rare diseases are often overlooked. It is crucial to raise awareness for rare diseases and advocate for more equitable outcomes for rare disease research, funding, and treatment. Rare Disease Day provides an excellent opportunity to get involved and advocate for rare diseases as a healthcare priority. There are many ways you can help! Joining a rare disease event is a great way to raise awareness, educate, donate, or converse with individuals over a shared topic of interest. Another way to celebrate Rare Disease Day is to wear that you care by wearing denim or a blue denim ribbon to show your support for rare disease communities worldwide. Lastly, an easy way to support Rare Disease Day is by posting why you care or sharing your experience with rare diseases.
For more information on Rare Disease Day and how you can get involved, visit rarediseaseday.org and globalgenes.org.