Genetic ALS:
a personal journey and a life’s mission

My family’s long journey with ALS began when I was 10 years old. That’s when my uncle Bill was diagnosed with bulbar-onset ALS, a form of the disease that leads to difficulty speaking and swallowing. At the time, I had no idea that this was an especially rare form of ALS. I barely even knew what ALS was, let alone the effect it could have on a person—or an entire family. 

Sadly, my uncle would only live for another 2 years following his ALS diagnosis. Watching the incredible toll ALS took on him was devastating. But it was just as difficult to see the effect it had on his wife, my aunt Lynn. That was a lot for a 10-year-old to take in.

At the time, my uncle’s ALS was labeled as a sporadic case, which is the word used to describe ALS in people who don’t have a known family history of the disease. To our knowledge, there had been no one else in our family with ALS. So while my uncle’s passing was a terribly sad moment that we knew even then would change our lives forever, we thought our experience with ALS had come to an end. We had no reason to think it was only the beginning.

It was 10 years after my uncle passed away when my aunt Paula—my late uncle’s sister—was diagnosed with ALS.

Hers was the form of the disease that begins in the limbs, which I would come to learn is more common than the type of ALS my uncle dealt with. But, for the second time in my young life, I found myself shocked, confused, and saddened by this disease I still didn’t quite understand. This was when I realized that ALS had a recurring presence in my family. 

My aunt Paula passed away 2 years after she was diagnosed. We decided as a family to explore the idea of a connection between the two cases. But none of the doctors we talked to could verify that one existed. Strange as it might seem today, none of them even brought up the idea that genetics might play a role in ALS. We’d soon find more reason to suspect that they could, in the form of yet another family tragedy.

While we were searching for a connection between the ALS cases in my family, and still reeling from Paula’s death, we were also struggling to cope with my father’s cognitive decline. I’d always looked up to my father and we had a wonderful relationship. When I was about 15 and he was 45, he began to show signs of early-onset frontotemporal dementia, or FTD. FTD is a disease in the brain that causes mental deterioration and behavior changes that get worse over time. Those kinds of changes can lead to a lack of connection between people—even people who have loved each other all of their lives. My father became, at times, difficult to deal with. There were moments when I couldn’t recognize him and his disease created a rift between us. 

As my father’s condition worsened, my family was desperately trying to understand his illness. He spent 7 months in the hospital after losing most of his cognitive function. During this time, despite the input of his doctors, no one could figure out what was wrong. He passed away at just 60 years old.

I decided then that I needed to learn as much as I could about the diseases impacting my family. I felt there had to be a connection between the ALS that robbed us of our uncle and aunt, and the FTD that took my father. I felt like it was too big a coincidence for there not to be any connection. I came to the conclusion that if I could understand that connection better, maybe I could find a way to help my family—and other families dealing with the same thing. I had found my mission.

During my father’s autopsy, a genetic test revealed that he had carried a mutation in something called the C9orf72 gene. It turned out that this mutation is associated not only with FTD, but with ALS as well. In fact, we now know it is the most common genetic cause of both conditions.

Through genetic testing, we were able to identify the genetic mutation associated with my father's condition, and discover that it may have also been a factor in my aunt's and uncle's conditions. Finally, we had an answer. But now it opened up a whole new world of questions. While this news went a long way toward explaining our past, it could also have serious implications for our future. We learned that there was a 50% chance my father had passed the mutation on to me. It was shocking and more than a little terrifying but, on the other hand, it also gave us information to help us make informed decisions.

When we learned this, I was young and healthy and had just been married 6 months earlier. No one looking at me from the outside could have known the gravity of what my family and I had just discovered—that a gene mutation associated with ALS and FTD ran in my family, and that my father could have passed the same mutation on to me.

I had spent so much time watching my mother care for my father. Now I thought of my own wife. Would she eventually have to care for me the same way?