Rare Disease Day: Why Awareness Matters and How You Can Participate

Rare Disease Day, observed on the last day of February each year, is a crucial event dedicated to raising awareness about rare diseases and their impact on patients' lives. Rare diseases, also known as orphan diseases, affect a small percentage of the population. While each rare disease only affects a small percentage of the population, collectively, over 7,000 rare diseases impact over 300 million people globally. 

Why Awareness for Rare Diseases is Important

Picture the heart-wrenching journey of raising a child afflicted with a rare, mysterious illness, an enigmatic puzzle that even seasoned doctors struggle to decipher. Imagine the nights filled with worry, the endless quest for answers. Families grappling with rare diseases are often plunged into a labyrinth of trials: agonizing delays in diagnosis, an absence of viable treatment paths, and a startling scarcity of medical professionals equipped to offer guidance.

Yet, there's a beacon of hope. Engaging with Rare Disease Day becomes more than a gesture; it's a lifeline. It's a powerful act of solidarity, an opportunity to amplify awareness, ignite research interest, and foster a community where every rare voice is heard, every struggle is acknowledged, and every small victory is celebrated. It's a chance to transform personal battles into a collective movement, paving the way for breakthroughs that could light up countless lives lost in the shadows of the unknown.

Raising awareness can lead to:

• Improved Diagnosis:  Awareness can encourage more research and better diagnostic tools. With over 7,000 identified rare diseases, doctors may need more experience correctly diagnosing a patient's specific condition. Raising awareness can help improve recognition.
• Increased Treatment Options: Only about five percent of rare diseases have FDA-approved treatment. More visibility motivates research funding and drug development. 
• Increased Research and Development:  Understanding rare diseases is vital for the medical community. It can lead to breakthroughs in understanding more common diseases and foster innovative treatment approaches. Increasing understanding and visibility of these diseases is crucial to improving diagnosis, treatment, and the lives of patients. Greater awareness can attract funding for research.
• Support for Patients and Families:  Awareness brings attention to the needs of those affected, fostering a supportive community.
• Eliminating Isolation: The rarity of these diseases means patients have few opportunities to connect with others who share their condition. Awareness events help build supportive communities.

How You Can Participate in Rare Disease Day

• Attend or Organize an Event: Check out Rare Disease Day's official website for a list of events. You can attend local events or even organize your own to spread awareness. Look for conferences, walks, or fairs in your area and join in. Wear lime green for the cause. Offer to volunteer if you can.
• Share Stories on Social Media: Post facts, stories, and infographics using the hashtag #RareDiseaseDay to spread the word. Tag politicians to advocate for change.
• Organize a fundraiser: Host an event and donate the proceeds to a rare disease charity like TGen’s Center for Rare Childhood Disorders or the National Organization for Rare Disorders. Ideas include bake sales, concerts, or activity-thons.
• Learn more:  Follow organizations like Global Genes that promote rare disease education and keep up with the latest research and news.
• Advocate for Policy Change: Contact local representatives to advocate for policies that support research and treatment for rare diseases.

Delivering Support and Hope 

Your participation in Rare Disease Day, no matter what actions you take, can make a real difference. Every bit of awareness and understanding gained makes a difference to the patients and families impacted by rare diseases. Use Rare Disease Day and every day to educate, fundraise, advocate, offer hope, and improve the quality of life for those affected.

And remember, you don't have to go on this journey alone. It’s easy to feel adrift and alone, but connecting with others on a similar journey can offer words of encouragement and help you facilitate a smooth transition for your child.

The dedicated team at TGen’s Center for Rare Childhood Disorders and others continue their groundbreaking research to find answers and develop treatments. Through the generosity of donors, the Center provides genomic testing for families at no charge and continues its work to provide solutions and cures to families and their children.