Both Things Are True

My Aunt Donna died two weeks ago of ALS.

My Aunt had bulbar- onset ALS. This means her speaking, swallowing and breathing were affected first. She did not have FTD (as far as I can tell.) We texted sometimes. She was in various clinical trials and expanded access programs. Sometimes she’d call me by mistake and I’d hear her grunting and gasping- she couldn’t talk anymore. She and my Mother had a complicated history. They never connected during their diseases. Donna was excited about the future for me and her three sons, all at risk. We talked about that hope. I told her I was involved in research studies. In her last text to me, she said,

“You are a hero for ALS clinics.”

I’m spending as much time with my Mom as I can this summer. In my last week in NYC, I took part in two research studies- ALLFTD and a Metabolic Study through Columbia. AT ALLFTD I went through hours of cognitive testing and had my first lumbar puncture.The cognitive testing was not very stressful for me- it felt like a game. As for the spinal tap, I hunched over on the table as the doctor stuck a needle into my spine to access my precious CSF. Just like acupuncture, I felt the pain higher up on my back then down where the spine was tapped. It made me really nauseous, but I was well enough later to go see Gypsy starring Audra McDonald. The metabolic study was a day of various tests including a metabolic chamber, a full body Xray, 3 urine samples, 3 blood tests, etc. I have a little glucose monitor on my arm as a continuation of the study. Findings for this study so far suggest that c9 carriers have lower BMIs than non-carrier controls. I don’t know if I’m a carrier but… I’ve always been small. My mom and her sister were always small.

I’ve been visiting her every day. Sometimes she is a little responsive, other times minimally responsive. There are sweet moments where she reaches to hold my hand. They are clawlike, twitching, cold in mine. She can follow instruction, and I wish she had the resources to communicate better.

She’s surrounded in her specially pressurized bed by her stuffed animals, a babydoll with eyelashes she likes to feel, squeak toys, photographs. 

There are moments where she’s staring at me with this look on her face- this look that she’s in pain, she knows she’s dying, she’s so sorry how hard it is for me, she’s so sorry she has to leave. I look out the window, she hums reflexively. I heard words in my head

My heart is broken

Everytime Linda and I visit, we bring her a treat. She loves apple pie! Other times, shortcake. I sit there at the foot of her bed and hear them coaxing, “Swallow, swallow!” It’s getting harder and harder for her. Sometimes Linda tickles her throat. I grit my teeth. If I were my mom, I would hate that. There’s a woman down the hall who constantly screams ‘Help me!” I close the door. My mom hears it every day. These poor women. 

Two years ago I was at my friend’s house and I took a hit of his weed pen, like I had done many times before. Suddenly, I felt really unwell. I stood up from the chair I was standing in, took a few steps and slumped to the floor, unconscious. I woke up a few minutes later.

My friends convinced me not to call 911, even though I felt so sick. They convinced me that I was hot, dehydrated, stressed and tired.

I found out a few days ago that its possible a heart condition called Long QT Syndrome runs in my family. This time on my Dad’s side. This is a condition where the time where the heart rests in between heartbeats is longer than average. It can go undetected until a significant event, like fainting… or cardiac arrest, occurs. I mean, I could have fainted for plenty of reasons, but. I will see an electrophysiologist, have a baseline EKG, a stress test where they measure my heart rhythm while I’m running on a treadmill, and a 24 hour heart monitor.

It’s so bizarre to focus on anything besides ALS and FTD. At least this condition is currently treatable. The trauma of genetic diseases- I’m moved to prioritize this. I feel my heart thumping like a frog jumping in my chest, or I feel the muscles in my chin twitch for 45 seconds and I think 

My body is broken.

But it’s not. I’m here and alive and I think I’m gonna be ok. I am not my Mom. Her getting worse does not mean I’m getting worse. In fact, I’m so committed to meditating on my physical strength and wellness that I will be hiking the Tour de Mont Blanc this summer (more on this soon!)

I will also be attending my second annual End The Legacy Summit in June. How sweet it will be to be with those who understand what this is like. When someone asks me why I’m so invested in ALS research when I don’t even know if I’m gene positive, I remind them I’m not just fighting for me. I’m fighting for all the incredible friends I’ve made who are at risk. That’s what my Mama would want me to do.