Do you remember two summers ago when we all were participating in an ice bucket challenge? You were nominated, usually on Facebook to dump a bucket of ice water over your head while nominating others to do the same. If you completed the challenge you donated $10 to ALS association, if you refused the challenge you donated $100. This took Facebook by storm from movie stars, entire teams of people such as fire departments, office workers, hospital teams, church groups, presidents and more. Even I participated in it as I remembered a friend I had lost to ALS. This challenge raised $115 Million for ALS and was essentially a zero cost fund raising event that took the world by storm and “went viral” on the internet within moments.
Amyotrophic Lateral Sclerosis (ALS) sometimes referred to as Lou Gehrig’s disease, is a devastating disease that involves the death of neurons that control voluntary muscles in the body. The mind is alert but the muscles become so weak that it renders a person unable to walk, sit up, eat, speak and eventually breathe.
There is good news coming out of that event from the summer of 2014. First because it was a worldwide event, it caused scientists to collaborate globally, which led to discoveries that were not possible in their own labs with only their patient population. Second, it led to the discovery and connection of the NEK1 variants in relationship to ALS. This was a gene sequencing study that identified ALS risk genes. While a cure has not been identified, finding the cause and exact genes related to the disease go a long way toward identifying prevention and possible cures.
So if you poured that bucket of ice water all over yourself and nominated friends to do the same, stop for a moment and feel good about the discovery you contributed toward.
Dr. Teresa Bartlett, SVP, Medical Quality