On February 18, 2022, I went to an appointment to get a Nerve Conduction Study and EMG. It was done by the Neuromuscular Department of Washington University. I met a wonderful Nurse Practitioner, Denali, who administered the test and who was teaching a resident, Acid Betty, how to perform the test. Denali and Acid Betty hooked me up to the machine and started testing my nerves and muscles to determine why I couldn't lift my feet.
I should back up a little bit. A fun fact about me is that I can't lift my feet. The medical term for lifting your feet is dorsiflextion. If you were to ask me to move my toes toward my head, I wouldn't be able to do it. I try - there's slight movement - and then I have to rest. The medical term for not being able to lift your feet is foot drop.
I first noticed the foot drop in both of my feet in 2019. For several different reasons that I'll go into in a future post, I wasn't able to see a doctor who took my concerns seriously until 2021. And then it still took several months for the referral to the specialist to go through. However, in early 2022, I finally got the chance to get a test done. My primary care/general practitioner doctor, Dr. Thorgy, was sure that the reason I couldn't lift my feet was because of a pinched nerve. She said this test would tell us which nerve it was and then we'd have a plan to fix it; I'd be walking normally again in no time! Little did she know...
The test was long and painful. Denali and Acid Betty stuck me with needles that sent shocks through my legs and deep into my muscles. It became clear pretty quickly that my nerves were fine, but my muscles were damaged. And in fact, my muscles were actively deteriorating. The word they kept using over and over again was myopathy. A word I had only ever heard on Grey's Anatomy and only when someone was in serious danger. But Dr. Yang was nowhere to be found in this tiny exam room. The doctor that was technically administering the test (who was in fact barely in the room) spoke only to Denali and Acid Betty, never to me directly. He's going to keep coming back into these stories so I should name him. He has no emotional intelligence, but he's one of the best in his super technical field. Let's call him Dr. Roxxxy. I don't want to be too hard on Dr. Roxxxy because we all have our strengths and weaknesses. I do consider myself lucky that a doctor who specializes in rare neuromuscular diseases is in the same city I'm in, and that he was the one to oversee this test just by luck of the draw. But I was in pain, heard very scary words, and had no idea what was going on except that it clearly wasn't a pinched nerve and the results they were seeing were incredibly abnormal. I had a full-on panic attack. Dr. Roxxxy fled the room as if he was allergic to feelings. The nurses are the ones who took care of me, wiped my tears, held my hand, and gave a brief explanation of what they found: Distal Myopathy. The story of this day and the weeks after it are filled with grief and pain and confusion, and it's difficult to write about. Maybe another day.
Long story short, I have a disease called GNE Myopathy. It is an extremely rare genetic disease. I still can't believe I have an extremely rare genetic disease. No one else in my family has it. It's completely changed my life and I am not okay. It's a form of Muscular Dystrophy, so that's what I've been telling people I have: Muscular Dystrophy. It's more tangible, but not quite as specific as what is actually going on. I have no energy anymore. My muscles can no longer build, only maintain or deteriorate. And my leg muscles have deteriorated A LOT. I used to run three miles no problem; now walking two blocks completely wears me out. I used to ride my bike to work at least three times a week; now I lose my balance just when standing still. I have to be really careful about my body and my energy. If I accidentally overdo it, I'm fucked for the rest of the week. I'll unpack three boxes on a Saturday, and on Sunday my entire body will be in so much pain from soreness and stiffness. And when that happens I don't know if I've just killed off a piece of muscle that I'll never get back. And because my muscles are actively deteriorating, I have to drink more water than ever because when my muscles deteriorate, the shreds of muscles enter the bloodstream. Then they travel to the kidneys which have to work extra hard to filter the shreds. And if I don't help them out by flushing them regularly with lots of water, I'll get a kidney infection. I had a kidney infection once as a child and it was the worst pain I've ever experienced - way worse than breaking a bone or getting my IUD put in - I never ever want to go through that again.
I now wear leg braces to help me walk; I've named them Flotsam and Jetsam. And I'm in physical therapy. The good news is that I don't trip on my own feet anymore. The bad news is vast and overwhelming. Eventually, I will need to use aids like a cane or a walker, and at some point I'll lose the ability to walk completely. Chances are high that I'll lose ability in my fingers, hand, and arms as well. It could take anywhere from 6 months to 29 years to reach that point. This disease is so rare and rarely studied - there's no playbook. I've only come across a handful of people who have it, and they each have completely different timelines of disease progression - even siblings who all have GNE Myopathy have completely different experiences. It is wildly maddening.
It's a genetic disease, but no one in my family has it. Not my parents, not my Broski, not my aunts/uncles/58 cousins. Dr. Roxxxy said that it's caused by a recessive gene mutation. If you remember your Punnet Squares you know that for each gene people have either Dominant/Dominant "GG", Dominant/Recessive "Gg", Recessive/Dominant "gG", or Recessive/Recessive "gg". For this gene, GNE, most people in the world have GG. A few people have Gg or gG, but that's pretty rare. And it's extremely rare to have gg, which is when the disease shows up. That means that both of my parents have either Gg or gG, and when they each gave one to me they both gave Recessive "g". A very specific set of events had to happen in just the right way to reach this conclusion. A statistical anomaly. My mom, between tears, told me I should go buy a lottery ticket. HA! Let me be clear, I don't blame my parents or my grandparents or anyone really. That's kind of the problem - there's no one and nothing to blame for this. It's not like this wouldn't have happened if I wasn't fat or if I only ate a vegan diet. This was always going to happen. And for no reason at all.
Anyway, what this all means is that the only other person in my family truly at risk is my Broski, who thankfully hasn't shown any signs. Please please please do whatever it is you do to manifest that they never do. This is a horrible disease that I wouldn't wish on anyone, not even Mitch McConnell.
My therapist told me this week that I'm going to have to write my own playbook. I guess that's what I'm doing here, writing about this. Also, I am deep deep deep deep deep in grief. I don't know how to tell people about it without giving a two hour lecture. I'm also really tired of having to explain it all over and over again when people first notice my leg braces. I don't blame anyone for their reactions thus far - it's very strange to suddenly see your friend in any kind of brace. And Flotsam and Jetsam are not immediately obvious. They may look like a design on the pants or very small stilts. But when someone asks about them, I feel like I'm reliving the worst moments of my life in hyper speed while I try to figure out what to say, worry about oversharing, wonder if this person actually cares, and calculate how much energy those milliseconds are siphoning from the rest of my day.
I hope that those who are curious can read about the journey here. Feel free to ask questions! This is a strange fascinating new world. I feel like Bilbo Baggins, except if Bilbo didn't have exceptional hobbit feet. Oh how I long for exceptional hobbit feet...
6/5/2022 12:54:52 pm
Oh Keating. I am stunned to read this. And I'm at a loss for words. I honestly don't think any words I could say right now would be any kind of comfort. But I'm listening to you and I see you and the deep pain you're in. I know there are so many who also love you and who are paying close attention. You're so beloved. I'm very curious to read on as your playbook continues. I'm sending huge kisses and hugs to you, dear one.
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I'm Keating. I have GNE Myopathy. Here are stories of my journey.