Letter: Rare Disease Day is coming up


To the editor,

I am writing to alert your readers to a special day that is coming up on Feb.29, 2012. On the last day of February, millions of people around the world will be observing World Rare Disease Day. There will be activities across the U.S., throughout Europe, in Canada, in Australia, in China and elsewhere to focus attention on rare diseases as a public health issue.

In the U.S., a disease is considered rare if it affects fewer than 200,000 people. Some rare diseases such as Lou Gehrig’s disease (ALS) are well known to the public. However, many others are not, and you can imagine the loneliness of having a disease that most people have never heard of, that has no treatment, and that is not even being studied by any medical researchers.

Many rare diseases are serious and/or chronic. Many are life-threatening. Even so, people with rare diseases often have trouble accessing the medical or other services they need because those making the decisions are not familiar with their diseases.

Nearly 30 million Americans (about one in 10) have rare diseases. All of us know someone with a rare disease. I encourage your readers to visit the U.S. Rare Disease Day website (www.rarediseaseday.us) on or before Feb.29, 2012, to read about Rare Disease Day activities in the U.S. and the global website (www.rarediseaseday.org) to learn what’s being done around the world.

This is a subject very near and dear to me since my daughter Bryanna Desouza of Naugatuck had a rare disease called Niemann-Pick Disease, type C. She died in December 2006. Fortunately, we have a wonderful foundation involved in family support and research (www.nnpdf.org).

Thank you for this opportunity to bring awareness to this upcoming day.

Judy Desouza