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Rare Disease Day

This Saturday February 28th is the first international Rare Diseases Day. I am not sure what will actually happen, but the day has been declared and so named to "focus attention on rare diseases as a public health issue". This is the first day that the event has been officially recognized in this country. There are also over half the states that have issued proclamations recognizing the observance. Why should I (or you) care. Well, in my case I am living with the facts and effects of a rare disease every day. My wife has a rare disease called Multiple System Atrophy, or just MSA. MSA is one of almost 7,000 diseases that are classified as officially "rare". To attain this designation the disease must affect less than 200,000 people. At this level of affliction, rare diseases do not get the medical, drug, or research attention of higher profile illnesses. However, with 7,000 different diseases, there are between 25 and 30 million people in the U.S. alone that are living (and dying) from these little known diseases. You can learn more at: http://www.rarediseases.org/. I am a member of NORD, the National Organization of Rare Diseases. They are the proponents and sponsors of the Rare Disease Day. They have also helped to put into place laws and regulations that helps drug companies get money and grants for research into medicines for rare diseases - aka "Orphan Diseases". Orphan Diseases are so named due to the fact that drug companies may have done research on or even discovered drugs that have some efficacy treating rare diseases, but do not follow through due to the fact that the market for them is so small that it would not pay off (hence they "orphan" the research/drug). Although I am not living with the disease and its symptoms personally, I can tell you that going to see anyone in the medical field for anything, other than the primary doctor that is treating you for the disease, is very frustrating. MSA is a neurological disease, but it is amazing the number of neurologist that have no real knowledge of it. A doctor in another field of study is usually not aware of the disease or its symptoms at all. That can mean a visit to the emergency room to check out the aftermath of a fall can turn into a hours long dissertation on the symptoms of the disease to avoid being admitted for something that we know is normal (at least in our world). This type of thing is what NORD and Rare Disease Day is trying to work to help. If you know anyone in the medical field to tell, or can get any attention paid to Rare Disease day - please do so. 25+ million Americans will thank you.

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