26.2 miles of feet pounding pavement is a challenge, but the finish line is clear and concrete.  When you get there, you are done.  Families touched by Rubinstein-Taybi Syndrome have an endless course ahead of them, with no clear marker for when things might ease up.  If not for the support of other families, there might not be any easing up at all.

RTS is a rare genetic condition that impacts physical and cognitive development of individuals to varying degrees.  My second daughter, Addie, now nearly 5, was diagnosed with RTS roughly 2.5 years ago.  Addie has low muscle tone and limited motor planning which has made developmental milestones a struggle for her.   Some struggles she’s won, some she still toils at.  Addie does not speak, but has been able to learn hundreds of signs and is now learning to use a communication device.  She has had 3 surgeries in her little life so far and recently recovered from pneumonia and a collapsed lung.

Our family has been able to cheer Addie through these marathons with the help and support of other families affected by RTS.  Like a marathon, all of it was pretty daunting at the outset, but with our community behind us, giving support, information and encouragement, Addie has made it to the finish line each time.

Though relatively small, the RTS community is an exceptionally loving and supportive group that we found through a foundation called Special Friends.  The Special Friends Foundation was so critical to us in the early weeks of getting Addie’s diagnosis, sending us information and other resources and connecting us to the big RTS family around the world.  The SFF offers families financial assistance for medical and therapeutic needs incurred because of RTS that may not be covered by other insurance or medical assistance programs.  SFF, in tandem with the Wesley T. Helmbrecht Foundation, also helps underwrite RTS family reunions that happen in varied hubs in the  US.  It’s at these reunions that families affected by RTS gather to laugh, cry, and share the experiences that help each other on the journey and offer each other the tools they need to provide an enriching and loving environment for their children.

Without the support and friendship of the families we see each year at our Midwest Reunion, we would not feel as hopeful and empowered to help Addie pick her path in life.

I was fortunate to complete my first marathon in 2007 after finding a solid, workable training plan, but thanks in large part to the advice, love, support, and encouragement of my family, friends, and even strangers who’d already experienced what I was about to undertake.  With their help and advice I stood in the starting corral confident that I had the right tools, training and plan to reach the finish line.  I wasn’t going to smash any land speed records in the process, but I knew I’d get there.   This attitude I learned from my beautiful daughter.  You don’t have to win for anyone but yourself, and anything is possible with the support of friends and family.

I’m running again this year but this time I’m also hoping to raise some funds to support Special Friends Foundation, who’ve given so much to my family and many others like mine.  I’d appreciate any support you can offer -- and welcome you to forward this to anyone who you think might want to donate too! 

For more info on RTS, click here.

For more info on the Special Friends Foundation, click here.

For more info on Addie’s path, click here

************UPDATE************* 

I'm very pleased to share that long-time family friend Tom Landers on behalf of the William Starck Jones Foundation has offered to match whatever funds are raised up to $4000 and we've been able to take full advantage of that gracious offer thanks to everyone's generosity.  My sincere thanks to Tom and the foundation, and all of you for your support!