LETTERS: Remember to observe National Rare Disease Day on Feb. 29

To the editor:

Feb. 29 is National Rare Disease Day. A disease, or disorder, is defined as “rare” in the United States when it affects fewer than 200,000 Americans at any given time.

According to the National Institute of Health, there are an estimated 6,000 to 7,000 rare diseases in the U.S., affecting 30 million Americans.

Amyloidosis is considered a rare or “ orphan “disease. Amyloidosis is a protein misfolding disorder which can be fatal if untreated. While there are treatments to put the disease in remission, currently, there is no cure. There are probably more individuals affected with this condition than the medical community is aware of.

Amyloidosis most often mimics heart, kidney or liver disease, and many patients also complain of chronic carpal tunnel syndrome.

Rare disease patients face many challenges such as lack of access to correct and timely diagnosis, lack of information and overall lack of scientific knowledge. Amyloidosis is believed to be under diagnosed due to the variety of symptoms exhibited by the sufferer.

Only about 200 rare diseases have FDA approved treatments. The Orphan Drug Act enacted in 1983 provides incentives to encourage treatments for rare diseases by medical researchers.

Other misfolding diseases such as Alzheimer’s, ALS and Parkinson’s, affecting millions of Americans can be positively affected by this research.

To learn more about Amyloidosis, visit bu.edu/Amyloid.

Bob and Joan Sampson


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