I am C9orf72-positive and symptomatic, among other things.
In plain English, I carry a pathogenic repeat expansion in a gene called C9orf72. It is associated with a spectrum that includes amyotrophic lateral sclerosis—ALS—and frontotemporal dementia, or FTD.
ALS affects motor neurons—the nerve cells involved in voluntary movement—and can affect strength, mobility, speech, swallowing and breathing. FTD affects areas of the brain involved in behaviour, judgment, executive function and language.
Being symptomatic means, this isn’t merely an abstract genetic possibility sitting quietly in the background. My brain and body have begun submitting support tickets. Unfortunately, neither came with a warranty, a troubleshooting manual or a useful customer-service number.
It also doesn’t mean that every bad day, forgotten word, muscle twitch or misplaced set of keys receives an immediate dramatic label. Symptoms require proper medical assessment, and this spectrum is not identical for everyone.
This section is where I’ll write honestly about that part of my life: appointments, symptoms, genetics, fear, frustration, mental health, adaptations and the occasional absurdity of existing inside complicated human hardware.
I’m not a doctor, and nothing I share should be treated as medical advice. I’m simply documenting my own experience and trying to make a difficult subject a little easier to talk about.
C9orf72 is serious but it is still only one part of me.
I also love hard, laugh loudly, collect too many things, build ridiculous Halloween displays, obsess over cars and live with enough rescued creatures to qualify as middle management in a very short zoo.
The diagnosis-related tab is just one of may tabs that remain open in my chaotic mind. I’ll be venting those thoughts here.
