BENEFITING: SMS RESEARCH FOUNDATION
EVENT DATE: May 27, 2012
What started out a few months ago as a personal challenge - to get in better shape and finish my first ever 1/2 marathon, has turned into an opportunity to help someone that I love and to raise money in support of research for Smith- Magenis syndrome.
Smith-Magenis is a little know genetic disorder with approximately 600 diganosed cases worldwide, however it is estimated that it affects one in 25,000 people. One little boy affected by this disorder is an adorable 4 year-old, blonde haired, blued eyed dynamo who I adore and cherish more than I ever thought possible - my son Rocco. He is a smart, funny, warm and loving little boy who struggles daily with the effects of SMS.
SMS is the result of a small missing piece of genetic material within the 17th chromosome; this is known as a microdeletion. This deletion results in a host of symptoms of which the number and severity vary. Most common are a a disturbed sleep pattern with frequent nightime and/or early morning awakenings and daytime sleepiness; decreased sensitivity to pain, developmental delays, self injury and frequent and sometimes prolonged tantrums. You can imagine that as a parent the combination of self injury and a high pain threshold are particulary diffiult to endure. To learn more about SMS and other SMS traits, you can visit www.prisms.org.
I am running in support of the Smith-Magenis Research Foundation whose mission it is to support research to improve the knowledge and understanding of Smith-Magenis Syndrome so that viable therapeutic options can be developed to improve the quality of life of those with SMS.
I understand that I am starting my fundraising late - but as they say, better late than never. So little is known about this syndrome and every dollar contributed can make a difference.