A patient perspective: My genetic testing story
I did it
I’m about to speak…to say the words that I have kept locked away. Never have I dared typing them out, not even allowing them to grace the tip of my tongue. Never even silently whispered them to myself. No I could never let them past my lips…that was unsafe.
I’m about to tell you something. Something that I have kept secret from my mother, my brother, never could I imagine uttering these words to the coworker who I sit next to for 8 hours every day, 5 days a week over the last 3 years. Not even to the best friend who I exchanged embarrassingly intimate details about the men I loved over the years.
And yet here I am about to tell you, a stranger I met a few years ago and yet my closest confidant. Last week I took a Q-tip and rubbed it against the sides of my two cheeks and sent that Q-tip to get tested for the presence of a PSEN1 mutation. I have decided to get tested.
I am terrified. I am terrified. I am terrified.
This is something I have been thinking about and contemplating my whole life. IT is what keeps me up late at night.
Over the years the back and forth has changed. In my early 20s I distracted myself with concerts and drinking. In my mid 20s I was convinced I had it and was determined to live my life to the fullest…travel, see the world, get the dress. In my late 20s I met my partner who made me believe in hope and for a few years was enveloped by the hope that I would be spared. Now in my 30s the debate has grown louder, and the back and forth send me on a daily rollercoaster ride. Rides that used to only come once a month.
I’ve decided that I have had enough. I can no longer live in this fear. A fear that I don’t even know where it truly lies. I need truth. I need my truth. The truth will set you free I hear. I need to know my fear. I want to greet it as an equal, or an equal playing field so I can welcome it and learn to live in peace with it.
I am terrified, but I know that I can no longer live in the unknown.
To keep the promise that I whispered to myself at 18 years old “this ends with me,” I am going to find out my status.
I am going to find out so I can make plans. Make plans to either drop the long-term care insurance and pursue a challenging career or make plans to have a baby that is free of the disease. Generation after generation we have watched as our loved ones were taken by this horrible disease. Well I say no more. I will not sit quietly as plaques slowly deposit themselves in my brain or the brains of my loved ones. I will fight. And to fight well, one must know one’s opponent.
Right now I am praying that this isn’t some sort of affirmation or self-fulfilling prophecy. I don’t want to have the PSEN1 mutation. I don’t want to get sick. I don’t want to lose myself. I want the genetic counselor to open the envelope and say are negative for the mutation.
I’ll take my dad’s brown eyes, but please not the mutation.
I'm in a much better place now. I've seen a psychologist and she's helped me figure out what I want to do. I'm learning how to listen to my inner voice and self. I'm learning to find strength and see myself as someone who can be okay with EITHER result. Someone who is resilient with or without Alzheimer's disease. It's a work in progress, but I can honestly say that as soon as I made a decision, I felt like a weight had been lifted.
I've decided I'm going to get tested. Thus far, I've felt like I could live my life the way I wanted. But it seems like now I need to confront Alzheimer's and confront my fear.
This process has made me realize how much I was living in fear. I know that there was always that tiny amount of hope and of course I don't know how much that is accounting for my psychological status at this point, but I'm so tired of living in fear. I think there's a really great analogy that my therapist used: You're out in the water near the shore and a big wave is coming...you're constantly wondering when is it going to hit me? Constantly thinking about how once it hits you, you're going to drown, how you'll get sucked under the riptide, how hard and how strong the weight of that water will hit you. How disorienting it will be. Well I've decided I don't want to keep watching for that wave. I honestly just want that wave to hit me. As my surfing partner told me, when a wave hits you, your instinct is to fight and swim your way to the surface, but in the end it's not the right way to handle a wave. The best way to react when a wave hits you is to just ride it out. Just lay motionless until it spits you out. You can literally sometimes watch the wave pass over you sometimes. You can feel something happening to your body, but you realize that you yourself are okay. I'm not sure if that makes sense, but it has seemed to make things much clearer for me. I say let that wave come, I'll ride it out and see where it takes me. If it's pain that it brings then I will learn to live with that pain and shape a life that appreciates every second. If it brings joy then it will be a welcome friend as well.
I'm not trying to say that my way is better, but I think I've reached a point in my life where I just can't move forward without learning this piece of the puzzle. It will determine whether I join a trial. Whether I start a family. Whether I need to make arrangements for my future.