By Larry Falivena

Larry Falivena is a member of The ALS Association’s Board of Trustees and is living with ALS. Today, he is sharing his unique experience with the disease and his perspective on genetic testing.

In August of 2017, I heard the words that I had been trying to avoid throughout the previous three plus years of tests and doctor visits: “You have ALS.” I participated in the Ice Bucket Challenge a few years prior, but I really didn’t understand the disease.

Like most people, I Googled “ALS” early on when it first came up as a possible diagnosis. What I read was disheartening to say the least. First, there is no cure. Secondly, ALS is always fatal, and third, people typically have just two to five years to live from the time of diagnosis.

It is now five-and-a-half years later and I am blessed to be able to walk into my office and type this blog with my hands. I may be a bit slower and weaker, but I’m beating the odds. I believe a big reason for this is because of a treatment targeting my specific form of ALS, a mutation of the SOD1 gene. 

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While only about 10% of ALS diagnoses are genetic, (also known as familial ALS) about 40 different ALS-causing gene mutations have been found so far. There is so much we still don’t know about what causes ALS, but identifying a gene mutation could be the first step towards developing a therapy—as was the case with my SOD1 mutation.

Very soon after I was diagnosed, my doctor, Dr. Richard Bedlack at the Duke University ALS Center, suggested I get a genetic test, even though I did not have any known family history of the disease. The thinking was that if a genetic mutation did cause my ALS, I could target a trial or treatment that was specific to that gene.

In my opinion, that one decision, getting a genetic test, changed the course of my disease and my life. Sure enough, a SOD1 mutation was found. Once the gene mutation was identified, I began searching for any studies that were targeting SOD1. My prayers were answered. I found a study and was eventually enrolled.

It’s been three years since I first started that study, and I am now still participating in the open-label extension (OLE) so I can continue the treatment even though the trial has ended. The drug, tofersen, is now being reviewed by the FDA based on data from the phase III study and OLE. A final decision on the drug’s approval as treatment for this particular type of ALS is expected from the FDA by April 25, 2023. I, like many others in the ALS community, am hoping for good news.

When you’re sick, not knowing the cause can be worse than the symptoms. I would much rather know what I’m facing so I can deal with it. That is another thing that is so frustrating about ALS. In most cases we don’t know the cause. After the genetic test, I now had information I could use to fight this disease.

However, while this news was helpful for me, it was also very disturbing. The reality that my genetic mutation for ALS could be passed down to one or both of my two boys was yet another punch to the gut after already learning I had ALS. This is the reality for people with genetic/familial ALS. It’s like an anvil hanging over your head, constantly wondering if or when it’s going to drop.

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Personally, I’m glad to see genetic testing is becoming an easier option. Genetic research in general is becoming more of a part of medical research and treatment in general. I believe it will give us the best chance at curing and even preventing ALS in the future.

Based on my experience, I would recommend everyone consider it and pursue genetic counseling. I have no known family history of ALS, and yet a gene mutation was identified in me. Perhaps it was something latent that was triggered by something environmental. Whatever the reason, identifying that gene mutation led me to where I am now—receiving treatment for a disease that has very few options and making it past that “five-year mark.”

We still have work to do. Identifying a gene does not yet mean you will be cured, and the knowledge that you have a genetic form of the disease can be a burden. We also need the government to put protections in place to safeguard against discrimination based on genetic information. However, the opportunity to know what you're facing, and have the potential to treat your specific form of ALS, or make family decisions, accordingly, makes the testing well worth it.

Special thanks to Larry Falivena for allowing us to share his story and unique perspective about genetic testing with the ALS community. To learn more from Larry, listen to our recent Connecting ALS podcast episode, The Genetics of ALS.

To learn more about genetics and ALS, visit our website HERE.

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