Find Us On Facebook
Follow Us On Twitter
"Confetti Skin, Beauty Within" is our blog about ichthyosis and its effect on our lives. Rachel and our three boys are affected with the form of ichthyosis called "icthyosis en confetti, type 2".

Read more about us and this blog...

Here's our summary of our best and most important posts of 2012.

World Rare Disease Day

Today is the last day of February, and with it comes an annual event hosted by the Global Genes Project. This charity is not specific to ichthyosis, but instead works to raise awareness and promote research and education for all rare diseases and disorders, of which ichthyosis is only one. Well, actually 32.

Today is World Rare Disease Day, also known as Jeans for Genes Day.  Around town, you will see people wearing jeans, or sporting denim support ribbons. All over Facebook, many of your friends may have a RARE disease avatar in support. There are a bunch of community events scheduled all over the country. Most notably for us, our friend Laurie has created and mailed out over 700 support ribbons and her children’s entire elementary school is wearing jeans for genes in support.

How big is this? From the Global Genes Project website:

There are about 7000 rare diseases. You’ve heard of some, like epidermolysis bullosa and ichthyosis. You may have seen some on Discovery or National Geographic, such as children with progeria or Treacher-Collins, or conditions like albinism. But there are thousands of others out there.

A rare disease is any disease or disorder that affects less than 200,000 people in the United States. Ichthyosis (excluding vulgaris and X-linked) are estimated to affect 300 newborns per year, so around 22,500 people from age 0 to 75. Even adding X-linked, the total is still less than 200,000.

1 in 10 people are born with or acquire a rare disease. 80% of the disorders are genetic problems. In some cases, even the genetic problems don’t show up for many years. For example Huntington’s Disease is a dominant genetic disorder that starts to cause problems in the late 30s and is fatal within 10 years. However, most of the disorders are present at or shortly after birth.

30 million people in the US have a rare disorder. 300 million have a rare disorder worldwide.

50% of those affected by rare disorders are children. Rare diseases and disorders are the number one cause of disability and chronic illness in children. 30% of those affected children will not live past age 5.

Only half of these rare disorders have an organization or charity for support and research funding, like DebRA for epidermolysis bullosa or FIRST for ichthyosis. Yet even with the charity support, 95% of rare diseases have no FDA approved medical treatment. Since 1983, only 326 drugs have come to market for the remaining 5% of rare disorders.

One of the main efforts of the Global Genes Project is to lobby for funding for NIH for research. While drugs or treatments created for rare disorders only have a very small impact on a small number of people, we have learned that the leaps forward in understanding the mechanisms that cause these disorders also helps us understand and treat more common disorders.

So wear your jeans today. Show your support for rare diseases. And while you’re at it, pop over to your favorite charity and donate to help us find the cure.

FIRST: Nanotech ointment, Gene therapy, Other projects
DeBRA: Current Research
Ichthyosis Support Group: Current Research
Camp Wonder
National Organization for Rare Diseases
Global Genes Project

Leave a Reply

You can use these HTML tags

<a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <s> <strike> <strong>