The Meaning Of Rare Disease Day: Sam Berns, Mindfulness, And Rainbows
As Rare Disease Day approaches this week, the passing of Sam Berns alittle over a year ago, from the rare disease Progeria, has remained in my thoughts. How he lived his life influenced many people globally. Sam’s life and his story, as told in the documentary, “Life According to Sam”, affected me greatly. It has made me think what I would do if I was in his situation. Yes, how would I handle my life and living day by day, knowing that I have an incurable disease? Would I be angry at the world, would I be brave and try to move forward, would I help others in an identical situation?
Progeria is a fatal genetic condition that rapidly ages certain systems of the body. All children with Progeria die of the same heart disease that affects millions of normal aging adults – arteriosclerosis. The intellect of children with Progeria is unaffected despite physical changes in their young bodies. The disease affects 1/4,000,000 children. There are approximately 200 – 250 children living worldwide with Progeria today.
Sam is diagnosed with Progeria in 1998 at the age of 2. Little is known about the disease in 1998. When told of the diagnosis and prognosis, Sam’s parents, Dr. Leslie Gordon and Dr. Scott Berns, didn’t accept this. It is Sam’s parents who work relentlessly to pursue treatments and a cure for Progeria. Dr. Gordon, with the support of her husband, a pediatric ER doctor, devotes herself and her career to studying the disease. The Progeria Research Foundation (PRF) is created in 1999 and raises $1.25 million within 4 years, for the purpose of identifying the gene that causes the disease. After the gene is identified, the first potential drug treatment using experimental drugs called Farnesyl Transferase Inhibitors (FTIs) are found by researchers funded by PRF. Dr. Gordon then gathers a team of scientists and doctors and in 2007, launches the first Progeria drug trial with the FTI Lonafarnib. The clinical trial has 28 children, including Sam, from 16 countries. The trial continues for 2 years, 2007-2009, with positive results. PRF is currently co-funding and coordinating the “Triple Drug Trial,” that tests FTIs with two other drugs.
Sam’s journey has resulted in me becoming more “mindful” of the shortness and preciousness of one’s life. I am more mindful of my surroundings and the people in my life, both those who are present daily and those just passing through for the moment. I am more mindful and aware of what I am experiencing right now in the present, without analysis, judgment, or critique. Mindfulness is not judging others, acceptance of a given situation and the people involved, being open to others, treating all as equals.
Sam’s journey has me seeking passion again with new goals for my life. Sam lives his life with dignity, strength, and humor. Sam never gives up on life. Sam moves forward and faces all of his challenges with a big smile and humility. This is what Sam has taught me – to have passion for life and strive for the dreams, and to even find rainbows.
Please Note: “Kid Hugging a Rainbow” by Marendo Müller, artwork (Own work) [Public domain] | Wikimedia Commons.