We originally created this blog to keep family and friends updated about our little man Jacob, who was diagnosed in the summer of 2011 with a rare, life-limiting genetic disease called Niemann-Pick (type A/B). Jacob earned his angel wings on November 15, 2012, but remains our daily inspiration and constant reminder that we must live in the moment and fill each day with JOY, LAUGHTER and an abundance of LOVE.

Wednesday, February 29, 2012

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).

2 comments:

  1. I can't imagine how difficult it has been to share this, but I am glad you have and it's great there are campaign like this out there to help raise awareness. You always have my support and love!

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  2. Mom ~ Grammie KathyMarch 1, 2012 at 3:11 PM

    Dearest Sarah & Josh, Much to my Surprise, I saw your post with Jacob's blog on FaceBook - The Courage it took to write and then Sahre with ALL of Us....knowing that Privacy is so important. I am Proud of You both, for ALL that you do each and every day for Jacob - He is so Dearly Loved. Also, that you reach out to others to Raise Awareness & Support other Families w Rare diseases & to reach to Legislation on the vital importance of research and cures for Rare Diseases. Love you So Much xo

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