Philly Pedals

Advocacy / Mountain / Racing / Trans-Sylvania Diary

Why We Ride

Philadelphia Bike Ride

Please join team Rare Disease and myself for the Million Dollar Bike on Saturday, May 3rd.

Tree meet handlebars. Shoulder meet ground. Health Insurance meet ER X-Ray bills. My Sunday morning ride in the Wissahickon ended a little abruptly this past weekend. It wasn’t the best way to finish a great week of training, also not the worst considering my collarbone wasn’t broken and my shoulder wasn’t separated. Both were conditions which I feared might be a reality when my shoulder still felt like it was on fire after riding for another 45 minutes.

I’m extremely frustrated to be stuck inside on the trainer in the middle of what should be a huge training block. This seems to happen to me a lot. When I’m most fit or attempting to train the hardest, I get hurt doing something trivial. It never gets any easier for me to stay on the couch when I want to be on the gas but it’s something that I’m starting to accept as part of being an elite athlete.

Setbacks are part of life and as much as it bums me out to be injured, I know it’s just part of the job. Plus, I should be back in action for the weekend so it’s no great loss. In the meantime I’ve been trying to get caught up on some of my other responsibilities to the team. Theres a lot more work to being a bike racer than just racing and training. Rare Disease Cycling is putting on our first ever fundraising ride in May and it’s beginning to be crunch time for the team.

When I was extended the opportunity to ride for Rare Disease Cycling (formerly Team CF) last fall I was thrilled. The team takes its mission seriously and I’m glad to say that I’m a part of that. Rare Disease Cycling’s mission is simple, we ride to raise awareness and research funding for those living with rare genetic diseases and conditions.

Rare diseases are a complex subject, one which I’m only just beginning to grasp in any concrete sense. With that said, I’ve learned a lot in the last six months and I hope I can pass as much of that on as possible.

Rare genetic diseases, also referred to as the orphaned diseases are a broad spectrum of diseases and conditions which are passed on genetically. They include some diseases you’ve probably heard of, such as Cystic Fibrosis and Muscular Dystrophy. Theres also a large groups of less common rare diseases you may not have heard of such as the RASopathies. The RASopathies include conditions such as Cardio-Facio-Cutaneous (CFC), Costello, Legius, Nerofibromatosis type1 (NF1), Noonan, and Noonan with Multiple Letiginies (formerly called LEOPARD syndrome).

The research funded by the Million Dollar Ride will help to make a huge difference in the lives of children like Nola.

Sadly many of these conditions manifest themselves in children and infants, often fatally. Perhaps even more tragic is that due to the low occurrence(and therefore low profitability for pharmaceutical companies), very little research has been done on many of these diseases. The irony is that the diseases that are the least studied (i.e., orphan diseases) happen to be the ones which are the most likely to benefit from research on emerging new therapeutic platforms such as protein, cell and gene therapies. Team RDC is fighting to raise money for new and continued research with the Million Dollar Bike Ride on May 3rd in Philly.

The team has joined forces with the Center for Orphan Disease Research and Therapy at UPenn with the goal of raising over one million dollars for rare disease research. The money will be dispersed in over a dozen grants to research a variety of genetic conditions and diseases. It’s our hope these research grants lead to breakthrough treatments which will improve the lives of those born with rare genetic diseases.

I’ve personally partnered up with the RASopathies Network for the ride. Through the network I’ve heard the stories of many children and their families who have been affected by one of the RASopathies conditions. In particular, I’ll be riding in honor of the courageous Nola.

Nola is a 6 year old girl with a huge personality. She loves books, the iPad, ballet, cats, dogs, and most of all, babies. When she grows up she wants to be a pediatrician or a nurse so she can help babies feel better. Nola has mild Cardio Facio Cutaneous(CFC) condition which includes a slight heart defect, amblyopia, strabismus, reflux, and a gastronomy tube that should be out in time for the summer. She also has classroom struggles which are primarily related to developmental delays that affect her fine and gross motor skills.

The struggles these children and their families helps to keep things in perspective when I’m bummed out about something as trivial as my sore shoulder. Lots of children like Nola have already spent more time in hospitals than any of us will over course of our entire lives. The saddest part is that many of these conditions are likely to be easily treatable. The Million Dollar Ride will help to fund a new round of research into rare diseases. Hopefully this will lead to earlier detection, more effective treatment and even prevention.

I sincerely believe that the money we raise can make a difference in the lives of those affected by rare genetic diseases and conditions. Please consider joining us on May 3rd or making a donation. Any amount helps to make a difference and every single dollar donated not only goes directly to research but is also matched one for one by a private donor.

Did I mention that you get a kickass jersey from DNA cycling just for signing up for the ride?

Leave a Reply

Your email address will not be published. Required fields are marked *

You may use these HTML tags and attributes: <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <s> <strike> <strong>