Not Your Typical Holiday

World Rare Disease DayI love holidays.  All of them.  I even love those special days we’ve created, “Sweetest Day”, “Grandparents Day”, “Take Your Child To Work Day”.  But who knew I’d be so involved in something called “World Rare Disease Day” on February 28th.  Not exactly something that was on my radar a couple years ago.   But, here we are on this newly discovered “holiday” but what am I supposed to do?  Buy presents?  Decorate my house?

The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.  I asked myself, am I doing this?  Am I doing the WRDD festivities?  And thankfully, my answer was yes.

So I ask you, will you join me in celebrating this newly discovered “holiday” by supporting our foundation?  You’d spend a few dollars on a card or flowers for boss’s day, so why not donate instead?  You might not get a raise, but you’re helping to change lives.

2013 Game

Where Do I Begin?

Raquel and Stephanie Gebel

Raquel shortly after her diagnosis and me on the steps of the Wash U School of Medicine.

It was a little over 2 years ago when I embarked on this journey with Wolfram syndrome. Last October, I received a devastating blow, one that would change my life and others forever.  My youngest daughter, Raquel, was diagnosed with Wolfram Syndrome, a terminal form of diabetes.  She had been diagnosed with Type 1 diabetes just 9 months earlier.  As a mother, I decided that I was not going to stand by and watch the deterioration of my little girl. There was a lot of work to be done and I was going to do it.

For the last 11 years I have coasted along as a wife, mom and friend. I am blessed that I do not have to work, but I always felt something was lacking in my life, so much so that I frequently brought it up to my husband, Barclay.  When the Wolframs diagnosis occurred, I knew it was God telling me, “Here is your chance, go out and make a difference.”  I am blessed because I had a dad who had an unbelievable personality and who was a well-known athlete, having played for the LA Rams and later as the announcer for the St. Louis Rams. In addition to my dad, I have a brother with a heart of gold who is also well-known for his athletic accomplishments, but in baseball having played in the Major Leagues for over 13 years.  Thus, The Jack and JT Snow Fund was born.

This blog will be painfully therapeutic for me, but also helpful to others dealing with Wolfram syndrome and those who are wondering just what this disease is all about.  I’m not Patricia Cornwell or J.K. Rowling, so bear with me as I take you on the journey that I began back in October 2010.