From a Caregiver’s Perspective: Deciding to Learn One’s Genetic Status

Partners in FTD Care_Caregiver’s Perspective_Deciding to Learn One’s Genetic Status - WEB FB LI TW

Partners in FTD Care, Winter 2022
Download the full issue (pdf)

by A. Parker
FTD runs in my father’s side of the family. My paternal grandmother almost certainly had it, although she was never officially diagnosed. But three of my father’s four siblings had FTD, and so did my father, who displayed symptoms starting in his 40s before dying in 2009 at age 60.

Before my father died, I got a phone call from some kind of government health worker, possibly a genetic counselor. (I was a busy undergrad and don’t remember exactly.) She told me that my father’s FTD was caused by a genetic variant – one that I may have inherited. She recommended that I look into genetic testing to determine for sure if I shared the variant, explaining that there was a 50/50 chance that my brain was genetically hardwired to deteriorate prematurely.

This news completely overwhelmed me, and I coped by trying not to think about it. Instead, I spent that time doing what many people that age do – starting my career, socializing with friends, dating. I was still a little naïve as to what FTD entailed, and how bad it would eventually get for my dad.

Eventually, however, the anxiety of not knowing got to be too much. My coin-flip chances of getting FTD literally affected every part of my life, from my career to my relationships to the idea of someday having children. So when I was 24, my brother and I went to the University of California, San Francisco, to undergo testing. The staff there was extremely supportive. Their interest in me and my family was genuine and sincere, which made me feel special and important. They set me up with a genetic counselor, who graciously answered all my questions. Over the course of several days, I took numerous tests (memory quizzes, word problems, reflex testing) and submitted to blood tests and MRIs. The counselor asked my brother and me a long series of questions about our family’s medical history. The UCSF staff said that my results would not be immediately available, and that they would not share them with me until I asked for them and underwent counseling.

Shortly after I got home, my dad’s FTD went from bad to worse. Seeing him at the end of his life brought on intense anxiety and depression, as I saw first-hand how severely debilitating late-stage FTD is. I found it impossible to grieve properly when my dad died, knowing that his fate could one day be mine.

At this point I started becoming paranoid, thinking that any slight abnormality in my behavior confirmed my nascent FTD. Was my handwriting getting worse? Could that be a sign of FTD creeping in? (My dad’s handwriting changed drastically in his final years.) I stopped laughing at jokes that everyone else found funny – was the part of my brain responsible for my sense of humor already dying?

I had kept in contact with the genetic counselor and reached out to her when I finally felt ready to learn my test results. My best friend accompanied me to the counselor’s office. The genetic counselor asked me one final time if I was sure I wanted to learn the results. I told her yes, and she opened an envelope and read from a piece of paper: My results were negative.

FTD remains very much a part of my family’s life. Some of my cousins on my dad’s side have asked me about my experience of getting tested, and whether they should get tested themselves. I tell them that only they can make that decision. For me, knowing my genetic status felt necessary. But I will never forget what my genetic counselor once told me: For some people, not knowing their status is a way to hold on to hope. Even a little hope can be very powerful; taking it away can have devastating mental-health consequences.

Then again, someone who has a confirmed genetic mutation told me that he is glad to know his positive status. Knowledge is power, after all. Either way, the decision to learn one’s genetic status is not one that can be made lightly.

See also:

Stay Informed


Sign up now and stay on top of the latest with our newsletter, event alerts, and more…