Tuesday, May 27, 2014


Have you heard of the Global Genes Project?

I've learned a lot about it this year, now that we know that our daughter has a rare genetic disorder.

A little about it in their own words...

The Global Genes Project is one of the leading rare and genetic disease patient advocacy organizations in the world. The non-profit organization is led by Team R.A.R.E. and promotes the needs of the rare and genetic disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. What began as a grassroots movement in 2009 with a few rare disease parent advocates and foundations has grown to over 500 global organizations.


Global Genes and our leaders are committed to ensuring that our programs support our worldwide mission:
  • Raising Rare disease Awareness, Research and Education (R.A.R.E.)
  • Unifying and empowering a vibrant rare disease community to take action
  • Funding innovative programs to help organizations fast track “in-a-lifetime” rare and disease research and therapies
I love this concept. With so many of us smattered around, it's difficult to make a difference on our own. But together, we make up a pretty decent percentage of the population. After all...

Rare and genetic diseases affect 1 in 10 Americans, 30 million people in the United States, and 300 million people globally.  Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes.  The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.

So, I'm happy to support this initiative. That's perhaps why, when I saw they were having a contest, I told my husband, Brian, about it. Why my husband? Well, because he seems to have a special way with words.

I'm glad I did because he was a top three finisher. So, he got a prize pack and his words will be featured in an upcoming art installation.

The task: to tell our rare disease story in 6 words.

His words:

Altered by genes, amended by love.

And here's the prize he received today:

I opened it up and I was overcome by one word... hope. I float in and out of hopelessness living with SMS. Many days, I just shrug my shoulders and think that this is just going to be what it's always like. Ducking blows, living with outbursts, locked doors, and anxiety at every turn. Not to mention the possible physical ailments that could develop and that already have.

But there is hope - there has to be - that things will get better.

After all, my middle name is actually Hope. So, I really should live up to my given name and live hopefully.

And it really does help to know that there are so many others out there living with developmental, cognitive, and physical disabilities that are rare. Though I really do wish there weren't so many others. What a club to belong to.

Congrats Brian. Well done. And thanks Global Genes Project for the work that you do.

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