National Rare Disease Day

You may be asking yourself...what is a rare disease? A rare disease is one that affects fewer than 200,000 people. There are nearly 7,000 rare diseases that affect more than 30 million people in America (1 in 10 Americans). 95% have no treatment or cure! Niemann-Pick is considered a rare disease because there are only about 1,500 cases of type A and B worldwide.

World Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year and although it may not sound like much to "celebrate", it truly is a day to recognize and show support for those battling a rare disease. Although it has been beyond difficult to accept Jacob's rare disease diagnosis, it has become less difficult over time to be able to discuss his disease with others (at least without so many tears). As a parent of a child with a rare disease, you have to be a very strong advocate in order to get your child the care that they need. This means you have to talk about the uncomfortable topics surrounding his disease. In researching  Jacob's disease and connecting with Niemann-Pick families/resources, we are helping to educate Jacob's health care providers and in turn, Jacob gets the support he needs.

Today is a day to support Jacob and all the other people faced with rare diseases! Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult, which means treatments and cures are not always available. Sadly this is the case for Jacob and others with Niemann-Pick, but it doesn't have to stay that way. We've written to our congressman and are participating in the Global Genes Project and Fund's "Hope: It's In Our Genes" campaign. Jacob's picture will be included in the packet presented to the National Institute for Health in Washington D.C.

Show your support...share this blog post, post Jacob's picture on your Facebook page, or go to this link and "raise your hand" in support for the 30 million Americans who are affected by rare diseases -- Lundbeck will make a $1.00 donation to support rare disease research (up to a maximum donation of $10,000 for the campaign). The money raised will be contributed to a general research fund managed by the National Organization for Rare Disorders (NORD).