Just the Facts, Jack: Conversations About Familial ALS
One of the toughest conversations I’ve had about my genetic status as a carrier of the C9orf72 mutation for ALS/FTD have been with my kids, back in 2022. I’d been holding the secret of my genetic status from them for four years, until I knew they were mature enough to understand. Until I realized there was impactful longitudinal research that I could participate in. My kids were seventeen and fifteen. Here’s how the conversation at the dinner table went:
“Guys, I’m going on a trip to Boston.”
“Why?” they asked.
“You know how Nanee had ALS? I recently learned that it’s the same disease that my Grandpa Milton died of. It can be passed down through generations.”
“Can you get it?” they asked.
“Yes. I had a genetic test done, and I carry the gene mutation that causes ALS. It doesn’t mean that I’ll definitely develop the disease someday.”
They took it in for a minute, so I continued, “I’m going to Boston to donate some genetic samples and images for them to research familial ALS.”
“Will they know if you’ll get the disease then?” they wondered.
“They can tell if I’m developing symptoms.”
“Good!” one of my sons exclaimed. The other asked, “Can we get ALS?”
“You guys have a fifty percent chance of having the gene, but kids don’t get ALS; it’s an adult disease. And even if you have the gene, you may never develop the symptoms.”
“Can we get tested?” they wanted to know.
“Not until you’re adults.”
Notice that I wasn’t panicky, hysterical, or nervous. It was only the facts, and I only told them what they needed to know. A medical intervention in the form of genetic samples being donated was happening soon, and this was why. I closed with, “I’m doing this research so that there’s a cure for ALS. So you don’t have to get it. So I don’t have to get it. And I don’t plan to get it – ever.”
The conversation ended with them thanking me. So, I guess I did a good job delivering the news. I kept it as simple and truthful as possible, and that has paved the way for lots of other tough conversations. It’s opened the door for my children asking me things like, “How are you feeling?” or “What’s the latest ALS news?”
As clear as I’ve been to my family, sometimes it’s too much for them. Sometimes I hear from my son, “This is stressing me out a little. Do you mind if we don’t talk about it?” and I have to honor that. I also have many family members (some who also carry the mutation) who don’t want to talk about it. One relative in particular tells me that she’s planning to ignore her genetic mutation and that she’s not going to talk to her kids or grandkids about it. The topic, she says, is too stressful.
My own feelings – anyone who knows they carry a fatal mutation should tell their adult children – are unimportant, when it comes to my extended family. Even if I think it’s irresponsible to make family planning decisions without genetic testing, I’m forbidden from talking with certain family members. It’s a tough spot for me. I want to help my loved ones make safe choices, but I don’t want to lose my relationships with them over it.
I’ve heard that some genetic carriers send an email to all of their relatives that is a top sheet explaining Familial ALS/FTD. Below, there’s an attachment that loved ones can use to enroll in research, get genetic counseling, and order a free genetic test. So it’s up to the relative if they want to read more about how they can save future generations.
I’ve always been a planner. I don’t like to be blindsided by something I should’ve taken care of previously. It calms me to talk about my future with potential ALS or FTD in it. I already have a punch-list of things I’d do if I develop symptoms: move to a single-level, ADA compliant house, enroll in clinical drug trials, find a compassionate way to end my life. The list goes on. Fortunately, I don’t really need to talk to people about those things yet.
What I did was get my insurance, my will, my advanced directive, and my kids’ finances in order. It’s just the right thing to do when you’re middle-aged anyway. I also have a bucket list that I’m already addressing: teach people about ALS, go on a book tour, travel internationally with my husband, get rid of my Tesla.
I’ve always been a talker. There are very few things I don’t tell people. And spreading the word about ALS/FTD is the best thing I can talk about now. The more people understand about the C9orf72 mutation, the closer science will be to cracking open the mystery and the cure. Most people, young and old, are interested in my story, so by osmosis, they’re interested in genetic forms of neurodegenerative diseases. Being an open book about my diagnosis may make some people uncomfortable, but true friends stick with me, even through the uncomfortable stuff. And do I truly want to be friends with someone who will turn my back on me if I’m sick?
Knowing my genetic status has been the key to becoming a better activist. It’s made me a better friend, a more compassionate caregiver, and a better communicator. It’s also shuffled the deck for me. I know what’s important in a way I didn’t understand before. I think that my friends and family like me more because of it. I don’t spend time with people I don’t like, and I think my loved ones really feel important because of it.
I’m very excited to share my forthcoming book, Last Nerve: A Memoir of Illness and the Endurance of Family. I’m excited to continue the conversation, even when it gets tough.