Bardet Biedl Syndrome Foundation

Connecting families and sharing information on research, treatment, and therapies for Bardet Biedl Syndrome.

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The Rocky Ride for BBS Research
October 13, 2018

My 12-year-old nephew Nathanael is super-smart, so so funny, and passionate about life and learning. But he was born with Bardet Biedl Syndrome (BBS). BBS is a rare genetic disorder with highly variable symptoms, including retinal degeneration, obesity, reduced kidney function, among many other features. By God’s grace, Nathanael was also given a loving, fighting spirit. 

For the second year in a row, Nathanael and his dad are going to bike 36 miles from their home to the Philadelphia Museum of Art and run up the iconic steps, just like Rocky, to raise funds to fight BBS. They call it The Rocky Ride. This year, they made a call for other riders to join them. How could I say no?

 Nathanael, his Dad Tim, my niece Lucy and I

Nathanael, his Dad Tim, my niece Lucy and I

 Paul and Nathanael

Paul and Nathanael

 My family chilling with Nathanael at Thanksgiving

My family chilling with Nathanael at Thanksgiving

 Nathanael at the top of the steps at last year’s Rocky Ride

Nathanael at the top of the steps at last year’s Rocky Ride

So… “Uncle Bill” is joining in on Saturday, Oct 13th!  Want to ride with me? Or would you consider joining with a financial gift of $1 - $10 per mile or another amount as you feel led?  You can see the sponsorship options below. 100% of your donation will go to the BBS Foundation. My goal is to raise $5000. Every dollar counts, and as Nathanael says in the video below, let’s “win the fight against BBS for families around the world!”

Man I love this kid! I cannot wait to finish the ride with Nathanael and crew, and for the first time, and run up those “Rocky Steps.” But instead of yelling out “Adrian”,  I will yell out “Nathanael!!!”  We love you!

Learn more about Nathanael and BBS...

Learn more about the Rocky Ride...


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About Nathanael and BBS

Nathanael is 12 years old, and will be entering 7th grade this fall. He was diagnosed with BBS just before he was born. BBS is a rare syndrome that affects about 1 in 250,000 people in North America. People with BBS have a defect in the way their cells communicate with each other. It's a complex syndrome with a wide range of symptoms and a lot of variation from person-to-person. But usually people with BBS have trouble developing strength, impaired kidney function, hampered senses and vision loss. 

Due to the syndrome, Nathanael's muscles did not develop normally. It was a fight for him to learn to crawl, and then to walk, run and jump. But he did it. It was fight for him to learn to speak. But he did it. It was a fight for him to develop the strength and balance to pedal a bike, even a tandem. But he did it. He's fought back against his progressive vision loss by learning to use a cane, and mastering braille. Every day he pushes himself to eat healthy and exercise to keep growing stronger. Taking on a 36 mile bike ride is just the latest challenge he's taken on. Meet Nathanael and Tim in the video above.

Research on BBS has advanced rapidly in the last 20 years, when the first gene was linked to the syndrome. Now more than 21 have been identified and we know why these genes cause the symptoms they do. But developing therapies still requires much more research. The Clinical Registry Investigating Bardet Biedl Syndrome, or CRIBBS, is key to that research. The registry gathers clinical information from people with BBS so that researchers can better understand how the syndrome works. Without a central registry it would simply be too expensive to track down information on this rare disease. The registry, launched four years ago, is already playing a key role in advancing research and attracting investment in possible therapies.

The Bardet Biedl Syndrome Foundation is a registered 501(c)3 non-profit dedicated to improving the lives of families affected by Bardet Biedl Syndrome through information, support and by advancing research and therapy. All donations are tax deductible and support research and programs to support families affected by BBS.

Questions? Contact Us

 

About the Rocky Ride

We depart from Exton Park and ride the Chester Valley Trail for about 10 miles to Valley Forge Rd. After a short ride through a suburban neighborhood, we ride up into Valley Forge National Park, the only hill on the ride. From there we cross the Schuykill River on a separated bike bridge and join the Schuylkill River Trail, riding about 18 miles to the Philadelphia Art Museum. Aside from the transition between the Chester Valley Trail to Valley Forge National Park and one short stretch on the Schuykill River Trail, the entire ride is on protected bike trails.

We'll be met by supporters at the steps who will take charge of our bikes as we run up the steps to the "finish line". We'll have refreshments at the start and at the Art Museum. After the ride, a trailer for bikes and a shuttle for riders will be available to bring everyone back to Exton Park.

For more details or any questions, contact us.