The Best Thing to Happen to me: My New Normal

When referring to my new book, Last Nerve: A Memoir of Illness and the Endurance, I say that being diagnosed as a carrier of a fatal, neurodegenerative disease was the best thing to ever happen to me. Some people, especially those living with ALS or FTD, may think that sounds crazy. I reserve the right to feel that way too, if I ever become a symptomatic patient. For now, though, knowing that I carry the C9orf72 genetic mutation that may kill me is my superpower. 

Yes, sometimes causes me to be nervous. Sometimes I fail a cognitive test. When that happens, it sounds like this:

The neurologist says, “Mindy, you failed the online Trails A test.”

“Bummer. I’ve always been bad at that test. Does it mean anything if I failed?”

“It’s a precursor for Frontal Lobe Dementia. Especially since you also failed the Stroop Color Match test.”

I get nervous at this point, until he says, “It was an online test?”

“Yes, and I took it on a day when our internet connection kept going out.”

“Then don’t worry about it. These tests are highly subjective, and they should be done in person. Can you come in to retake the test next week?” 

So, I go in, take the test, and pass with flying colors. 

Sometimes, I have a neurology exam, and the doctor notices something concerning. The conversation goes like this:

“Did you know that your palate is tented on one side? The hard palate should be completely symmetrical. A tented palate could mean bulbar onset of ALS. And you also have a twitchy tongue.”

I have no answer for him, so I’m nervous. I ask my GP about the tented palate. She says she noticed it twenty years ago and just assumed it was caused by a deviated septum or was just part of my normal anatomy. I go back to the neurologist with my GP’s comments.

I find that this kind of fear is just part and parcel of living with a strange and mysterious genetic predisposition. It doesn’t cause me to anticipate getting FTD or ALS. It just proves to me that the medical profession is one built on conjecture, trial and error, and scientific exploration. It’s part of my new normal.

The hope I feel about carrying this gene far outweighs the fear. Researchers are closer than ever to finding a cure for ALS. And because genetic carriers are considered the “low hanging fruit” because we know the cause of our ALS (as opposed to the sporadic ALS patients who do not), our ALS will likely have a solution sooner. When I participate in longitudinal research – as I do several times a year – I’m contributing to the vast pool of information that scientists have at their disposal. With patients like me giving their biosamples and cognitive tests, researchers have more data. It’s very reassuring to know that the longitudinal studies I’m part of directly impact what scientists learn about neurodegeneration.

The expression “knowledge is power” really applies to my life. The more I learn about the C9 expansion, the more powerful an activist I can be. I feel a responsibility to educate others and inspire them to become involved, too. It’s not like I know everything about ALS and FTD, but you know what they say about practicing for 10,000 hours: you become an expert. While I’m not an expert on C9, I am an expert on my experience living with it. The other thing about knowing my genetic status is that I feel responsible for disseminating information to my 30 family members who are at risk. As a result of speaking often with my family members, I feel closer to them. We’re in touch more often since I found out my genetic results. 

Because I volunteer as a peer mentor, I’ve developed the ability to listen with an open mind to people faced with a similar genetic diagnosis. I’ve become more empathetic toward my ALS community, which includes symptomatic patients and presymptomatic people at risk. Initially, when my mom (Nanee) died of ALS in 2020, I got very triggered around ALS patients, especially those with bulbar symptoms. I got panicky when I was around people who drooled or slurred. I had a fight or flight response. It wasn’t a lack of empathy; it was PTSD. I was still traumatized by watching my Nanee die. I was scared of the people who I now call my friends. 

This realization doesn’t make me proud, but it helps me realize that I was still suffering and not in a good space to be retraumatized. Now, after seven years of knowing my genetic status, I’m able to feel empathy for others and also for myself. I can show up for my friends with active ALS and FTD and I can learn from them. Part of being part of a community of people who are likely to die of ALS has made me appreciate all of the amazing things they can do. I’ve watched them testify before Congress, compete in the Invictus Games, finish marathons, travel the world, fundraise, speak on webinars, show up at conferences, and kick more ass than their able-bodied counterparts. They’ve become my role models. That humility and grace have taught me so much. It’s made me a better person and a better friend in general.

Yes, carrying a gene for a fatal, neurodegenerative disease can be scary. But it can also be wonderful. I’m more grateful for my health, no matter how long my health lasts. There’s not a day that goes by that I don’t think, “My body is amazing. Look what it can still do!”

And as long as I’m still reasonably healthy, I’ll love my new normal. Twitchy tongue, failed cognitive tests, tented palate and all. 

To read more about the best thing to ever happen to me, pick up your copy of Last Nerve: A Memoir of Illness and the Endurance of Family!