Amy's America

Today was Rare Disease Day around the world. It’s a day about raising awareness of all the approximately 7,000 rare diseases that affect nearly 30 million Americans. What is considered a rare disease? In the U.S., any disease affecting fewer than 200,000 people is considered rare. And because they are so rare, even many doctors don’t know much about them, and therefore many people are misdiagnosed – and therefore mistreated – for years. Learn more by visiting www.rarediseaseday.us or by watching this video. Or for a very personal account, visit my friend Monique’s blog about her experiences with Pompe Disease.

I met Monique during my very first month working at Genzyme, two years ago. She visited to share her story with employees, and we were all so impressed with her energy and determination for advocating for people with Pompe. And she made us realize how important what we do every day is to our patients. Genzyme is a very special company. It’s been developing and making therapies for rare diseases for more than 30 years now. For many people, their disease would have no treatment if it wasn’t for Genzyme.

What really makes the company is its people – and there’s a special group there who take the patient connection to the next level: the Genzyme Boston Marathon Team. The team has grown from a small grassroots effort by a few Allston employees to now an international team with 17 runners. Still completely employee driven, the team has increased not only its runners, but its ties with the patient community through an increased partnership with the National Organization for Rare Disorders (NORD) and by pairing each runner with their own patient partner. Great, lasting relationships are built out of these partnerships. Something that just doesn’t happen at other companies with their customers.

A major part of the team’s focus is raising money for NORD, through various fundraisers. They are always FUN fundraisers, and ’tis the season right now! And they are open to everyone, so join us whenever you can! I will post various ones as they come up – particularly watch for the fabulous online silent auction in late March. Here are a few:

• Jessi’s VIP Beer Tasting Event – “The word on the street is that the brand new Harpoon Beer Hall is a wicked awesome place to have a good time. You are invited to a private, narrated beer tasting at a VIP room in Boston’s finest brewery. Harpoon Brewery 306 Northern Avenue, Boston, MA 02210 Wednesday, March 6 … 7:30 p.m. – 9 p.m. Not only is this the most fun you’ll have on a Wednesday night all year, but you’ll be supporting a good cause – the National Organization for Rare Disorders (NORD). Reserve your spot on the guest list today by donating $20 directly to Jessi’s FirstGiving page (http://www.firstgiving.com/fundraiser/jessicacolund/bostonmarathon2013). All proceeds will benefit the National Organization for Rare Disorders (NORD) and my epic Boston Marathon adventure.”
• Andrew’s Bowling for Rare Disorders – “I am hosting a bowling fundraiser at Jillian’s Boston to support the National Organization for Rare Disorders (NORD). You will get two hours of free bowling, tasty appetizers and a raffle ticket.  We will also have some great raffle prizes including gift certificates to local restaurants. Please come to learn more about NORD, meet new friends and socialize while supporting a great cause. For the 5th year in a row I will be running in the Boston Marathon raising awareness about rare disorders and running on… behalf of Kristin, who has a rare disease called Cowden’s Syndrome. Jillian’s Boston 145 Ipswich Street Boston, MA 02215 Reserve your spot on the guest list today by donating $25 directly to my First Giving Page – http://www.firstgiving.com/fundraiser/andrew-scholte/bostonmarathon2013“
• Kai, Jen and Colleen’s Raise a Glass for Rare Diseases “March 16th at the Sherborn Inn in Sherborn, MA.  We have collected some pretty great silent auction items that we’re excited to share with you.  You’ll have a chance to bid on Sox/Yankees tickets, a baseball autographed by Red Sox closer Andrew Bailey, a beautiful canvas photo from photographer John Fischer, a massage from MacMed Spa, a basket of designer hair products from the Anthony Fredrick Salon, tickets to a taping of Late Night with Jimmy Fallon, a $100 gift card to J. White Automotive, and much more!  Plus all guests will receive a gift bag containing items from NORD, Genzyme, and some of our wonderful sponsors.  There will also be wine tasting from 6-8pm, and some great appetizers.Tickets are $35 each. ” If you’d like to purchase tickets, please go to any of their FirstGiving pages: http://www.firstgiving.com/fundraiser/colleendalton-petillo/bostonmarathon2013 , http://www.firstgiving.com/fundraiser/kailenesimon/bostonmarathon2013 or http://www.firstgiving.com/fundraiser/jentedstone/bostonmarathon2013.

Not able to attend a fundraiser? There are plenty of other ways to support the team:

• Join the “Running for Rare Diseases” community by subscribing to our blog (http://runningforrarediseases.org/)
• Like us on Facebook (http://www.facebook.com/RunningForRareDiseases)
• Following us on Twitter (https://twitter.com/Run4RareDisease)
• Watch/share our Boston Marathon (http://youtu.be/t7Qh0JfaFr8) and Rare Disease Day Relay (http://youtu.be/OnDUKzaQrrM) videos.

And no, I will not be running a marathon any time soon! I am part of the Genzyme Running Club, and finally signed up for what I am praying will be my first 5k back (don’t want to jinx it): the BAA 5k on the day BEFORE the Boston Marathon. I am just a very big cheerleader for the team and love supporting them by helping with fundraisers and any other ways possible. They inspire me, as do their patient partners. They are a fabulous example of living the Rare Disease Day motto: “Alone we are rare. Together we are strong.”

So yes, back to Rare Disease Day! It was a great day, marked by our second annual relay race, and this time went international, with a virtual handoff from Ireland to Framingham. Folks then ran in multiple legs, 26 miles in total, from Framingham to Cambridge. The last leg was also the biggest, with more than one hundred people running from our Allston facility to Genzyme Center. It was awesome to cheer the employees, lead by a visiting patient, who spoke with employees before joining the relay, as they set out to complete the relay and raise awareness of rare diseases. The spirit of the original core Marathon Team has reverberated throughout the company, and is really building our rare disease community, as more and more people are, quite literally, running for rare diseases!

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