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Rare Disease Day: 4 Things to Know

As part of a global campaign to raise awareness of rare diseases, the folks at Rare Disease Day designate the last day in February (this Friday) each year to hold events and activities to engage and educate communities all around the world on rare diseases.

Exact Sciences team member Lynn was personally touched by one of these rare diseases when her father was diagnosed with Multiple System Atrophy (MSA), a progressive neurodegenerative disorder that impairs the nervous system and motor control. There is no remission from the disease and there are currently no cures. In the USA, 30,000 people suffer from MSA.

Lynn lost her father to MSA on April 19th, 2013 and requested that we write about Rare Disease Day to help raise awareness for MSA and other rare diseases. 

She says, “He was a good man and a great role-model in my life. He was a D1 Lacrosse player (a co-captain of a national championship team) at Rutgers U, he flew interceptor jets for the USAF and he was an executive with the General Electric Corp after his career in the service. He taught me to compete, to win and lose with humility, to act with integrity and instilled a fierce sense of honor in me and my brother and sister. We miss him every day.”

Lynn's father and the Handprints Across America flyer

Here are some important things to know about rare diseases and Rare Disease Day

1. WHAT IS A RARE DISEASE?

In the USA, a disease is defined as rare when it affects fewer than 200,000 Americans at any given time. Over 6,000 rare diseases exist, characterized by a broad range of disorders and symptoms that vary not only from disease to disease, but also differ between patients suffering from the same disease.

The lack of scientific knowledge and quality information on these diseases poses a major problem, as there are often no effective cures for them. 80 percent of rare diseases have identified genetic origins, while others result from infections, allergies, and environmental causes. 50 percent of rare diseases touch children.

2. WHY ARE RARE DISEASES A PROBLEM?

The lack of scientific research about these rare diseases often results in delayed diagnoses, and because many of these diseases demonstrate relatively common symptoms patients can be misdiagnosed or experience delayed treatment.

Rare diseases are especially problematic given the chronic, progressive, degenerative, and life-threatening effects they have on a patient’s health. There is also a dire need for appropriate health care coverage for rare diseases. A patient’s lack of access to quality, affordable treatment can impose heavy social and financial burdens.

3. WHAT IS RARE DISEASE DAY?

Rare Disease Day is an annual, international event coordinated by EURODIS, national alliances, and patient organizations to raise awareness among the general public and national policy-makers about rare diseases and the impact they have on patients’ lives.

The event is intended to reach and educate the general public, patients and patient representatives, industry representatives, researchers, health care professionals, public authorities and politicians alike. The campaign started as a European event, but has reached people worldwide with over 70 countries participating worldwide.

4. WHAT CAN I DO TO HELP?

On the Rare Disease Day website, you can learn how to become involved with the events sponsored by Rare Disease Day. The site provides downloadable pamphlets, creative ideas for activities to host on Rare Disease Day, badges and logos to post and share on your social media sites, and opportunities to share and learn about stories from people personally affected by rare diseases.

And remember, Rare Disease Day is February 28, so be sure to spread the word this Friday!

The first photo and information about rare diseases in the post are courtesty of rarediseaseday.org and rarediseaseday.us.

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Topics: Colon Cancer News and Information, Healthy Living

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