Daniel Barvin: How one man’s experience with genetic ALS is connecting an entire community

Daniel Barvin is an ALS patient advocate and an employee of Coya Therapeutics. He has been compensated by Biogen for this article.

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Discovering an ALS connection through genetics1

Daniel Barvin’s story—like many stories about ALS—starts with family.1 From childhood through becoming a young adult, he had 3 different encounters with the disease. These encounters would eventually lead him to discover his life’s mission: helping people with a family history of ALS understand the connection between the disease and genetics.1

Daniel was 10 years old when his uncle was diagnosed with the ALS subtype known as bulbar onset.2 Of course, as a young child, he may not have completely understood the diagnosis. But he quickly learned how devastating ALS can be for an entire family when his uncle passed away only 2 years later.

The loss was heartbreaking, but the family grieved and moved on together—ready to leave ALS in the past. This was before the link between genetics and ALS had been established, and Daniel didn’t expect that such a rare disease would strike again so close to home. “At the time, we thought his disease was sporadic,” Daniel says, referring to the label historically used to describe ALS that appears in people without a known family history of the disease.2 “We had no reason to think otherwise.”

Daniel Barvin QuoteBut then, just a decade later, ALS reemerged in the family when his aunt was diagnosed with the disease. By this time, doctors were only just beginning to grasp the genetic aspect of ALS. Still, Daniel and his family couldn’t help but wonder if there was a connection between the 2 cases. Could there be a genetic component? Would genetic testing provide any clarity? Conversations with healthcare professionals left him guessing. “None of the doctors we spoke to discussed a possible genetic association,” says Daniel. “And genetic testing was never mentioned.”

While they continued to seek a connection, Daniel’s father was diagnosed with frontotemporal dementia (FTD), a neurologic disease with rapid deterioration and debilitating symptoms.3 His father passed away at just 60 years old, leaving the family to mourn once again. While his father had not been diagnosed with ALS, Daniel and his family were convinced that there was a link between his father’s FTD and the disease that took his aunt and uncle from them.

They soon found out they were right. “During my father’s autopsy, a genetic test revealed that he carried a mutation in the C9orf72 gene. This gene is associated with ALS and FTD,3 and we were able to understand the potential genetic component my uncle’s, aunt’s, and father’s conditions had in common. Finally, we had the answer.” 

Turning knowledge into empowerment

Mutations in C9orf72 are the most common genetic cause of both ALS and FTD.1 The awareness of this mutation brought a sense of understanding—along with great fear and concern. “The news about my father’s genetic status didn’t only explain our past,” says Daniel, “it could impact our future since there was a 50% chance my father had passed the mutation on to me.”4 Daniel’s selfless primary concern was for his loved ones. “Thinking back to my family’s experience, those who had lived with and died from ALS and FTD, each of them was blindsided by the disease,” says Daniel. “When it hit them, they—and those around them—were not prepared.”

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Looking to his own future as a husband and prospective father, Daniel realized that knowing his own genetic status could give him information to help him make informed decisions. “My wife and I saw it as something we needed to do for our next generation.” Therefore, Daniel decided to get genetic testing.

He and his wife leaned heavily on genetic counselors—a key resource throughout the process—who are carefully trained to guide people like Daniel along each step of their journey. He explained, “There were 2 visits during which I spoke with the genetic counselor. On the third visit, my wife returned with me to receive the result of my genetic test. The process is carefully designed to give you and your family information you can use to help make decisions, as well as the time to understand what’s best for you.”4

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Daniel received the results of his genetic test when he was 28 years old. Like his uncle, aunt, and father before him, he is a carrier of the C9orf72 genetic mutation.1 While he can’t predict what the future will hold, Daniel has come to see this knowledge as power. “I think that knowing my genetic status gives me the ability to see life from a different perspective,” he says. “A person who knows their status has the information to better inform them on healthcare decisions and potential participation in clinical trials.”5

Committed to an entire community

Daniel is keeping true to his word—and leading by example. He’s not only gotten more involved, but is working to educate an entire generation of those impacted by genetic forms of ALS. Through his advocacy work with groups like the ALS Therapy Development Institute and I AM ALS, Daniel is helping to build a community and provide resources for ALS-associated gene carriers across the country.

Scientific discoveries linking ALS to genetics have created an evolution in the way people view the disease.4 It’s an evolution that Daniel, who is well aware of how devastating ALS can be for a family, is helping to drive. “I believe that’s my mission,” he says. “I want to tell this story to the world. The more that people know about genetic ALS, the more they may be empowered to consider undergoing genetic testing, and the more we can learn about this devastating disease.”5

Learn more about genetic ALS with updates from InsideALS.com.

References:  1. Nguyen HP, Van Broeckhoven C, van der Zee J. ALS genes in the genomic era and their implications for FTD. Trends Genet. 2018;34(6):404-423. 2. Zarei S, Carr K, Reiley L, et al. A comprehensive review of amyotrophic lateral sclerosis. Surg Neurol Int. 2015;6:171. 3. Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012;11(4):323-330. 4. Roggenbuck J, Quick A, Kolb SJ. Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians. Genet Med. 2017;19(3):267-274. 5. Benatar M, Stanislaw C, Reyes E, et al. Presymptomatic ALS genetic counseling and testing: experience and recommendations. Neurology. 2016;86(24):2295-2302.

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