Invitae was challenged by genetic counselors at Ohio State University Medical Center and 23andMe to take on the ALS Ice Bucket Challenge to raise awareness and money for ALS research.
Several of Invitae’s employees have been affected by ALS. One employee, when asked what the ALS challenge meant to her, described moving to California to help take care of her father-in-law before he died of complications from ALS—an experience she said changed her forever.
Although dealing with disease in our loved ones is difficult, it can also be rewarding, enlightening, and life-altering in ways that we rarely anticipate.
ALS, also called Lou Gehrig’s Disease, is a progressive degenerative neuromuscular disease that starts with muscle weakness, typically in the arms and legs, and ultimately progresses to paralysis. The weakness seen in patients with ALS is caused by impairment of the nerves that control voluntary muscles, including the muscles that allow us to speak, swallow and breathe.
It is the loss of the ability to speak and easily communicate that can be most debilitating for patients with ALS and their families, as it creates an additional barrier to social connection when it’s needed most. Like many diseases, some cases of ALS are familial, caused by pathogenic variants in the SOD1 gene or one of eight other genes identified to date.
There was no question that we would accept the challenge, but we used cups instead of buckets because of California’s drought.
In raising awareness for this condition, and seeing the thousands of ALS Ice Bucket Challenge videos circulating in the past few months, we are reminded yet again that we are all connected.
We will all be touched by ALS, or another disease, at some point in our lives. Fighting to improve the lives of affected patients and their families is a job that falls to all of us. That is why Invitae is committed to helping patients, their families, and the medical community understand genetic disease by making genetic testing more accessible then ever before.