I am Familial ALS family member, gene unknown

50/50. A flip of a coin. Maybe I do, maybe I don’t. As I understand it, those are my odds of carrying a genetic marker for developing the swift, deadly disease—amyotrophic lateral sclerosis (ALS)—that killed my dad in 1999 at age 51, his father before him in his late 30s, his aunt in her 60s, and his cousin at 49. The one that killed my dad 18 months after he was diagnosed. The one that traps you inside a progressively paralyzed and immoveable body, while your mind is perfectly aware of everything that is happening, everything that you are losing. The one for which the best treatments currently available give you maybe another six months. The one that is rare enough that, for years, not enough resources have been dedicated to research for treatments and a cure.

We don’t know which ALS gene runs in my family, because no relative has developed the disease since genetic sequencing became widely available. My understanding is that through genetic testing, my brother and I, and our cousins on the other side of the family, could get bad news, but not good news. That is, we could find out that we have certain genetic markers tied to ALS. But we also could have a gene linked to ALS that has not yet been discovered. We won’t know until someone is diagnosed with ALS.

So far, genetic testing under those conditions hasn’t felt like something I want to pursue. And so, I’m left to wonder. And as I get older—now I’m just six years away from my dad’s age of diagnosis—not a day passes that ALS doesn’t cross my mind.

I think: maybe my younger brother will get it, but not me. Maybe I will, and he won’t. Maybe we both will. I think about how my mom would suffer through losing not only her spouse but also one or both of her children to this particular horror. I think about how on my great-aunt’s side of the family, there are four children, and only one of them got it. I wish I could take that as a good sign, but I know it’s just more indecipherable randomness.

I think about the symptoms, and whether I might be developing them. A bout of muscle twitches makes me certain that it’s happening, until they stop. I monitor for numbness and weakness in my fingers, because that was the first symptom my dad noticed. Most days I manage not to dwell on it. I do my best to recast it as a reminder to savor the present moment, because nothing more than that is guaranteed. To relish the times when things are going well, or are only medium hard, instead of devastatingly hard.

My mom tells me that my dad felt certain he would get it. I try not to think that way, because I also think about the power of the mind and the effect it can have on the body. If I focus hard enough, maybe I can will my body out of it. Which sounds ridiculous. But these are my thoughts.

I think about whether we should buy more life insurance, if the extra cost is worth the gamble. I think about how we could make our house still livable if I were to be in a wheelchair. I think about whether I would decide to have a living funeral, so that I could see everyone I love once more before I die.

I think about how my husband, after we met in college, had to decide whether to accept the possibility that, if we continued on together, he could lose his wife at some point to a debilitating disease. And he took that risk. When he talks about working hard now so we can enjoy retirement later, I think–but I might not be there for that. Which he knows. And I think about all that he and my children will go through if I do get it, because I’ve seen and experienced firsthand how hard having a loved one get ALS is on family members.

I think about how we chose to have children, two of them, even though it meant possibly consigning them to losing me early in their lives and to living with all of this same mental and emotional turmoil. But I also think, never once have I wished that my parents chose not to have me, even though I might be at risk. Death is part of life, and a slow death, even one from a disease as terrible as ALS, gives you a chance to make plans, to have important conversations, to say goodbye. A lot of people don’t get that chance. And I hope, desperately, that the forty or so years my children hopefully have before they might develop any disease is a good and sufficient amount of time for there to be some progress on treatments. Maybe even a cure.

I think about how my eight year old sometimes mentions being afraid of death and not wanting to ever die or have any of her family die, though she doesn’t yet know about ALS running in our family. I tell her that everybody dies, but nobody knows for sure when they’ll die, and that most likely her dad and I will be here for a long time. But I think about how I have a known potential horizon that most people don’t.

I think about leaving my children too early, and that it is the worst thought of all.

These are all thoughts that I live with. And I think about the fact that I will be thinking about them, and wondering whether it’s going to happen to me, every day for the rest of my life.

One thing I have found helpful from being even tangentially involved with an organization like I AM ALS is the concrete proof that I am not the only person who struggles with these exact issues, and the thoughts and feelings they raise. In particular, some of the content we are creating as resources for those impacted by familial ALS explicitly raises several of these exact thought patterns, and merely seeing them written out by someone else helped ease my mind. Joining the Familial ALS Community Team and social hour means that you can connect with and find support from others who share this burden, which makes it a little easier for all of us to carry.