Edwin Leap's post today focused on the March of Dimes. It brought to mind my interest in Cystic Fibrosis. the CF Foundation sponsors an annual walk/run each year, GREAT STRIDES. Although less well known it is a significant event in the lives of those families who have a CF relative in their lives. The event(s) took place this year on May 13 2010. Although it is too late to participate this year.....plan on it for 2011.
At any one time there are about 20,000 CF patients alive. CF is a recessive gene requiring a gene from each parent....one in 2,000 people (caucasians) carry the gene.
Survival rates have improved to the mid 30s, largely due to the research support given by the CF Foundation in their sponsored trials. Were it not for the CF Foundation CF would be an Orphan Disease.
The CF gene was one of the first genes identified in the human genome. It is responsible for encoding a protein in the cell wall that controls chloride transport across the cell membrane. You can learn more about it.....here.
My son was born in 1988 and I was told the average survival was to age 17 yrs, and that he would probably not get past age 10. When he was 2 years old the CF gene was identified, when he was three Pulmozyme (DNAse) was released after clinical trials were completed. (the first genetically produced drug by Genentech) He is now twenty-one years old
Along with these breakthroughs significant advances have been made in antibiotics, airway clearing medications, enzyme replacement medications and early aggressive interventions.
Further genetic studies have identified several subtypes of CF and the multiple alleles causing CF. Treatment courses can now be modified by the genetic mapping of individal CF patients.
When you think about the March of Dimes, think also about "GREAT STRIDES" for CF.
May is Cystic Fibrosis Awareness Month. Cystic fibrosis is a life-threatening disease that affects 30,000 people in the U.S., and approximately 10 million people are symptomless carriers of the CF gene. There is no cure. Learn more about CF at www.cff.org.
Please consider joining me, Frank Deford, Rosie O'Donnell and friends, Boomer Esiason, Lewis Black, and Francis Collins in our effort to change CF (Cystic Fibrosis) to CF (Cure Found)