Friday, March 6, 2015

Running for Rare Diseases

When I started blogging, it was not just to share my story, but also to potentially help others who may be dealing with similar issues. Personal experience can be the biggest testimony of what works and what doesn't or how to go about doing something. My experiences are not unique and there are many other patients struggling with symptoms, searching for a diagnosis, or just navigating the mess that is our healthcare system.

And not just mast cell disease patients, either. As I mentioned last week, there are almost 7000 rare diseases that have been identified. Over 30 million Americans are dealing with a rare disease...1 in 10...I think we all know more than 10 people, so you have at least 1 person in your life dealing with a rare disease. Maybe I'm that person...maybe there is someone else...

So, what can I do about it? I have struggled with that question for a while. I want to do SOMETHING to help others who may be dealing with the years of misdiagnoses and confusion and doctors and the unknown. I've been there, I know what it's like, I don't want others to have to deal with that. But I always came to a wall when I tried to figure out what I could actually do to make a difference...then I found Running for Rare Diseases (www.running4rare.org).

Running for Rare Diseases is an organization that was started by an employee of Genzyme. Genzyme is a company in Massachusettes that partners with NORD (National Organization for Rare Disorders) to research and develop treatments for rare diseases. The Running for Rare Diseases team is a group of runners that work at Genzyme and other similar companies who want to raise awareness for rare diseases and funding for the Undiagnosed Diseases Program (UDP) at NIH. This program is free to patients and provides diagnostic testing and treatment options for patients dealing with mysterious conditions that have not yet been identified. Each year, the Running for Rare Diseases team is comprised of runners and patient partners who pair up to raise awareness and funding and to be the faces of these rare diseases that are identified by NORD.


When I found this organization, it seemed like a fanstastic fit for me! Running and bringing awareness to mast cell disease and other rare conditions, sounds like an idea I could have come up with!! This year, I have the privilege of being the patient partner to Fran Crofts. She is an employee of Sanofi in New Jersey which is the mother company to Genzyme. This is her first year running with the Running for Rare Diseases team and is signed up to run the Providence Marathon on May 3. (I'll dedicate an entire post to her soon, stay tuned!) Check out her fund raising page (http://www.firstgiving.com/fundraiser/FrancesCrofts/2015-running-for-rare-diseases-team) and on the tail of Rare Disease Day 2015, consider donating!

I hate asking people for money, I know things are tight for everyone, and I typically don't give to everyone that asks me for a donation. However, I have found that I do like to give when I feel like I have a connection to the organization or when I am personally invested in it. I know many of you have been praying and coming alongside me and Nick and my family during this time and have become invested in our journey. I appreciate your support and prayers more than you can know! And I just want to ask you to consider giving even a small amount. I am a daughter, sister, wife, dog owner, friend, and I am just one. There are so many others out there still undiagnosed. The purpose of the UDP is to help decrease the amount of time to diagnosis for each patient.

Average time from beginning to seek answers to diagnosis with a rare disease is 8 years...that is UNACCEPTABLE. I am blessed...I am not homebound or completely disabled or unable to be alone, but there are many others who are. And so many wait well beyond 8 years for a diagnosis. So much can happen during those years, sometimes physical damage that is irreversible...shortening the time to diagnosis could improve quality of life significantly and certainly cut down on the emotional struggle that comes along with dealing with an unknown disease. I still have my rough days, I'm not healed and still working to manage my symptoms, but I am so blessed to have a diagnosis. When you pray for me and my family, please also consider those who are still on the long journey to a diagnosis, and consider being a part of raising the awareness and funding that is needed to make a difference in the rare disease community!



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