Care About Rare

By: Sue Anganes

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February 29, 2008, a “rare day” because it was a leap year, was the first Rare Disease Day in Europe. For the first time patient groups from different countries representing a variety of diseases collaborated on a large-scale awareness-raising campaign in favor of rare diseases. The success of that day gave way to a yearly event on the last day of February with the aim of becoming a world awareness day. The 10th annual World RARE Disease Day will be held on Tuesday, February 28, 2017! On this day, various activities take place all over the United States as well as countless locations around the world.__starter-file

Rare Disease Day is something my family participates in because we are battling one of the 7,000 known rare diseases. My two youngest sons are affected by a very rare neurometabolic disease – a neurotransmitter disorder. There are only one in one million persons affected with this disease.  Often those with rare diseases wait many years for a diagnosis. In our case, it was ten years before we had any idea what was wrong. In 2013, my boys were accepted into the Undiagnosed Diseases Program at the Nation Institutes of Health in Bethesda, MD. The NIH is our government’s research hospital and employs the world’s top researchers in medicine. We spent one week at the NIH undergoing tests, and then returned a month later for a trial of medicine. Three and a half years later, we are still experimenting with various medications.

This last day in February, we will once again participate in Rare Disease Day. It will mostly be a day to think about where we started in our medical journey, where we are now, thankfulness that we live in the greatest country and have the best hospitals and researchers right here, and hopefulness in obtaining a treatment or cure sometime in the future.

 

To learn more about Rare Disease Day and find out how you can participate, visit the links below:

http://www.rarediseaseday.org/

https://www.genome.gov/27544402/the-undiagnosed-diseases-program/

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