Monday, January 30, 2012

Monday, January 30th, 2012

World RARE Disease Day is February 29th - 30 days from today.  Why is the number 30 so significant?  30% of children with a rare disease will die by the age of 5. 

Nager Syndrome is considered rare.  Depending on where you look on the internet, there are between 75-125 cases reported.  When Peyton was first diagnosed by her clinical features she was only a few days old.  The geneticist pulled out an old book to show us a photo of a child with the syndrome.  The geneticist made a copy of the information for us.  Were it not for the Nager and Miller Foundation website and the internet in general, those few paragraphs would have been all the reference material we would have had. 
Like many families who have children with a rare disease, we are often educating the physicians treating Peyton about Nager Syndrome.  One of my first experiences was sitting in an ER and having the resident come back and tell us that she had just spent several minutes on the internet trying to find out more about the syndrome to assist her in treating Peyton.  Ever since then, I decided I needed to be more prepared and put together a hand out for specialists, pediatricians and therapists on what Nager Syndrome was and what clinical features Peyton did or did not have. 

When I began blogging, we had no idea the specific syndrome Peyton had.  But as a result of continuing the blog after her birth if you do a search on the internet for Nager Syndrome and look at the images section "Pictures of Nager Syndrome" you will see several photos of her.  Some may consider that an invasion of privacy but for the Nager families that are to come, I want them to have more than just an outdated black and white photo and a few paragraphs as they start on their journey.  I want them to see that a child with Nager will certainly have challenges but their lives can be rich and full - as their lives as their parents will be as well.  Without the internet and organizations like the RARE project, all of us who are touched by a rare disease would be even more isolated.  And really, the term "rare" is relative when you read these statistics:

* 1 in 10 Americans is affected by rare disease.  That's over 30 million people.  30 million Americans is more than the total number of people living worldwide with cancer.
* An estimated 350 million people are affected by rare disease worldwide.
* There are more than 7,000 rare diseases with some affecting less than 100 people.  75% of rare disease affect children.
* These rare conditions are chronic, life threatening and FATAL.  There are NO cures for any rare disease, and only 5% of the diseases have any type of treatment.
* Over 50% of Rare Diseases have no foundations, advocacy group or community support.

So what can you do on February 29th to bring awareness to Nager Syndrome and all rare diseases?

1. Help unite 1 Million for Rare on the Global Genes Poject Facebook page so that we can increase awareness to the rare disease community.
2. Wear that you care (using jeans to call attention to genes that can cause rare disease) and encourage others to do so.  Share your photos on Facebook of your jean support.
3. Donate a bracelet to the 7000 bracelets for hope campaign.

1 comment:

  1. Great post. I'm also a mom to a child with a rare disease. Your ER and doctor visits sound familiar to me, ha. I finally printed out an info sheet on my son so I didn't have to answer the same questions over and over. Thanks for sharing your story. Peyton is adorable.