WebMD staff writer Damian McNamara, MA, shared his experiences as an ALLFTD participant in a post published on the website’s blog.

“I always figured I would stay a safe distance — write and summarize study findings and medical advances for Medscape and WebMD,” McNamara said. “Keep it professional, stick to the science, and report the results. Until I found out I might carry a genetic risk” ALS and FTD.

McNamara learned his possible risk in 2022, when his cousin told him in an email that she had been diagnosed with both conditions. In the email, she said she could no longer drive and had difficulty finishing sentences.

Genetic testing showed that she carried a C9orf72 gene mutation. McNamara’s late maternal grandmother had been diagnosed with ALS, as had his maternal aunt, his cousin’s mother. McNamara’s mind immediately turned to his mother’s recollection of his grandmother’s experiences with ALS, making him anxious about the possibility of having it himself.

“I spoke with my siblings about what we should do,” McNamara said. “Should we get tested ourselves? Like other genetically inherited conditions with no known cure, the answer was not clear. If we test positive, what could we do about it? Would it be better to know or not know?”

McNamara’s older brother and a different cousin warned him about the risks of a positive genetic test result, such as making it challenging to get life insurance, long-term care, or long-term disability insurance. However, he learned that his diagnosed cousin had enrolled in ALLFTD, an observational study spanning the U.S. and Canada that seeks to study the natural course of FTD. McNamara was encouraged to enroll after learning that his test results would stay confidential.

“I was excited and anxious when I was accepted into the trial; things were getting more real,” McNamara said. “I met virtually with a genetic counselor. She explained how familial ALS is inherited – that only one genetic change from one parent is needed — so each child in affected families has a 50/50 chance.” (AFTD strongly recommends visiting a before taking part in genetic testing.)

McNamara learned he had a few things working in his favor: his mother lived to 92 without any sign of ALS or FTD, and none of his older siblings have been diagnosed with either condition. (McNamara one of the youngest of 10 children.) During his in-person appointment, McNamara underwent a series of tests and screenings, including an MRI scan and memory testing. Later, he requested a test to learn his genetic status, though its results were delayed, as he had to undergo a second test specific to C9orf72 after he learned the first did not include it.

“Two weeks later, the results came in, again shared via Zoom with the genetic counselor,” McNamara said. “I tested negative for C9orf72. It was a moment of immense relief. If my life were a movie, all sound would fade quickly, and I would see the counselor talking but not hear her words.”

At the time of the post’s publishing, none of McNamara’s siblings had undergone testing, reassured by his results. McNamara admits to feeling guilty for his negative results, due to his cousin’s struggles on her journey with ALS and FTD. McNamara shares that he has remained in ALLFTD as a healthy control, contributing data to compare against data from persons diagnosed.

Longitudinal studies like ALLFTD (U.S./Canada) and GENFI (Canada/Europe) help researchers understand FTD over its natural progression, including how symptoms and brain-atrophy patterns develop over time. For more opportunities to contribute to FTD science, visit the Ways to Participate page.