For better or worse, I don’t remember a single thing about my mother or her battle with ALS, also known as Lou Gehrig’s disease. She was diagnosed at age 29, when I was 2 years old, and my sister, Michelle, was 6 years old. She died one year after her diagnosis.
My grandmother, mother and two uncles also died from , which runs in my family. I was diagnosed with familial ALS on March 1, 2022. It was devastating, but not surprising.
I’d lived my entire life worried about the disease. That day, my worst nightmare became my reality. I had never done genetic testing for ALS because I knew that if I was positive, my anxiety would be crippling, and there was no intervention that could help me anyway — or so I thought.
Thank goodness, after my diagnosis, my neurologist at Rutgers took swift action and referred me to Columbia University’s Eleanor and Lou Gehrig ALS Center, where was available for my very unique genotype, SOD1. Only about 5-10% of ALS cases are familial, meaning that two or more people in the family have ALS, . SOD1 accounts for about 3% of total ALS cases (20% of familial ALS and 2-7% of sporadic ALS), .
Parents with a genetic mutation causing ALS of passing that mutation on to their children. Considering no one in my family lived beyond one year after being diagnosed, I am so grateful to be alive. Though my treatment is new, it brings me hope, and has slowed my progression significantly.
This disease is devastating in every way. My first symptom was weaknes.