I am very excited to be joining my teammates and my patient partner, Patrick, to be running the 2015 Boston Marathon as part of the Running for Rare Diseases Team. We will be running to support the National Organization for Rare Disorders (NORD), a non-profit organization that advocates and encourages research and development of new treatments for rare diseases. This will be my first ever marathon and I am very fortunate to be able to running with an awesome group of people.
In the US, a disease is considered rare if it is believed to affect fewer than 200,000 Americans. There are approximately 6,800 such diseases, according to the National Institutes of Health (NIH). While each disease is rare, when considered together they affect nearly 30 million Americans or almost 1 in 10 people. Given the rarity of these disorders many patients go undiagnosed for years and are deprived of life saving treatments. All funds raised by the 2015 Running for Rare Diseases Team will specifically benefit a fund created to pay for standard diagnostic testing for people with mysterious, undiagnosed medical conditions. The fund will help those who have applied to the National Institutes of Health (NIH) Undiagnosed Diseases Program, but who cannot afford the basic medical tests needed to make them eligible to participate in the NIH program.
My patient partner, Patrick, is an amazing, energetic 9 year old young man from Colorado who lives with his parents, his younger brother, and his dog, Bindy. Patrick lives a very busy, activity filled life. He loves to play baseball, basketball, skiing, and watching the Patriots! He is the point guard for his youth basketball team who just finished their first undefeated regular season. When I first talked to him, I was so excited to see how energetic and full of life he was, he even came ready with trivia questions to help with our fundraiser.
Patrick was diagnosed with Cyclic Vomiting Syndrome (CVS) in the fall of 2013 after years of episodes of vomiting, nausea, headaches, and dizziness, among other symptoms. It was a condition he had lived with his entire life, it just took that long for medical providers to diagnose it. CVS is a rare disease that is mostly identified in younger children, but can affect people of any age. It can be debilitating at times. Episodes of nausea, vomiting, and lethargy can occur regularly or apparently at random, or can be triggered by a variety of factors. The most common triggers are emotional excitement and infections. Other triggers can include periods without eating, temperature extremes, lack of sleep, overexertion, allergies, etc. These symptoms and triggers can make things difficult for school and extracurricular activities. The exact prevalence of cyclic vomiting syndrome is unknown; estimates range from 4 to 2,000 per 100,000 children (fewer than 2000 people have been diagnosed in the US). Because the numbers are so small, it is difficult to find information and resources on the disease.
For Patrick, he recently teamed up with his medical alert dog, Bindy, a little over a year ago and she has been a huge help. She is able to sense an attack coming even before Patrick feels it or at night when Patrick is sleeping. Unfortunately treatment for CVS is limited and there is no way to cure it. Because it is so rare, there is not a lot of awareness and understanding around the disease.
For more information on CVS, please visit the link http://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome.
To learn more about the team and our mission, follow our blog, like us on Facebook, and follow us on Twitter and Instagram.
I am thrilled to be a part of this team, fundraising, and raising awareness for CVS and rare diseases and truly appreciate all your support and encouragement as we tackle this challenge. Thank you!