This wasn’t meant to go up for a few more weeks, but it’s my birthday today and I realized it was probably time.
It’s been… years at this point, since I last did a dedicated post about my personal health battles. It’s never something I’ve been shy about discussing, but we’re way overdue for a dedicated chat.
Though I have always been open about my health – and struggles with managing said health, the thing that most interferes with my life didn’t have a name until this past year. Well I suppose it always had a name, but it took most of my life to find out what it was. I went pretty in-depth in a [much] earlier post about certain aspects of dealing with my invisible illnesses, but it is quite outdated at this point so be prepared for a little backstory. (I am not going to be discussing my medications in this post even though I have talked about them in the past and some have changed since then, it just wasn’t integral to the story I’m sharing here, but I will happily answer any questions).
I guess I’ve always had health issues. Thinking back, I remember pain as young as four, I remember signs of interstitial cystitis and irritable bowel at nine and 10. Of course I didn’t have the words then, and even if I did, I don’t think I understood that what was happening was very very wrong.
My parents love to tell this story about my difficulty grasping Russian and English languages simultaneously and telling them, at four years old, that my hand felt nauseous. Knowing everything we know now, that story is a lot less funny.
I remember driving with my family from Paris to Nice (about 12 hours) and begging to stop because I kept having to pee. I was a few weeks shy of turning 10 and remember asking my mom if her panty liners would be sufficient if I couldn’t hold it between stops. (Nevermind that I was also exhausted from repeated attempts to not urinate on myself at literal-hole-in-the-floor French rest stop toilets).
In fifth grade, I missed recess – or I’d miss my bus after school. I would hold it in as long as I could and then have diarrhea. I was grateful that the girls’ bathroom had floor-to-ceiling doors on each stall, so the cool kids couldn’t hear my guts revolting against me while they applied and reapplied lipgloss. The school nurse would yell at me for being in her office so frequently and make me take Pepto Bismol every time (I still can’t touch the stuff). By high school I knew to make sure I didn’t have classes scheduled during third period because I’d be in the bathroom by 10:15, like violent clockwork.
I know some of you may have this gut reaction to blame my parents for not realizing something was wrong. It didn’t even register to doctors then, it didn’t even really register to me. I didn’t know something was so wrong. There was nothing I could tell them. I mean yeah we knew I had stomach issues, but nobody ever considered it was my diet or that something more sinister could be going on. We knew I sucked at sports, but I just “wasn’t athletic” (or worse, lazy).
In high school, I had a colonoscopy and an endoscopy. I remember being worried the cameras would get tangled inside me… kids, please stay in school and maybe take an anatomy class too.
They said I had stomach ulcers and blamed it on my ADHD medication, so they gave me another medication to treat it. It never helped.
Nobody ever considered interstitial cystitis. I didn’t even know what it was until someone on Reddit said it matched my symptoms a few years ago. I was just “quick to get UTIs” and “needed more breathable underwear”. I was 26 when I told a gynecologist for the first time that I thought I had IC.
The muscle pain was an odd one, it didn’t really fit in with my GI disasters. I have memories of it, at age four like I mentioned above, memories from a second grade swimming field trip after which I had to physically pick up my legs one at a time to get back on the bus, memories from the dance classes and soccer practices my parents sent me to (mostly the soccer), memories of having to quit playing guitar after begging my parents to let me take lessons because my fingers hurt so much. It wasn’t until I started writing this post that I remembered multiple instances in high school of vomiting into the water fountain – French class was across the street, uphill, and on the third floor. My vision would get dark and it felt like my heart was going to tear out of my chest. I didn’t tell anyone.
It hurt; in retrospect it hurt a lot and often, but I didn’t know it wasn’t normal and it didn’t interfere with my life on the day-to-day back then (or at least, I didn’t think it did…). It didn’t get to that level until January 2011 – I had only been living alone for a few months by then, subsisting primarily on Boca spicy chik’n burgers, buffalo chicken pizza, and Crab Rangoon from Circles (the one on 15th and Tasker).
It started with numbness in my foot, and the lower back pain I’d had since October. It just kept getting harder to do stuff – walk, be active, be away from my personal space for extended periods of time without knowing all of my walking/sitting options. Stairs were the worst, and often dictated if I’d attend a social event or not. If there were too many, or I went too slow in an attempt to pace myself, my hamstrings and glutes (that’s the butt muscles) would swell and it would be hard to move that part of my body for at least a few hours.
My hands were the other issue. It seemed like the simplest tasks would render one useless. Peeling chickpeas, using the can opener, pulling the trigger on the Windex bottle as I cleaned my bathroom. Sometimes just my ring and pinky fingers would swell and stiffen, often it was the space between my thumb and index and across my palm, sometimes it went up through my wrist and across my forearm. It felt like I would drop anything I tried to grip and it hurt to rotate or bend the afflicted area, but I couldn’t stop doing it either.
It took three primary care doctors, two rheumatologists, a neuromuscular specialist, an EMG, and a round of genetic testing throughout the course of nearly two years… to be told the results were inconclusive and yea, I had some kind of muscle situation. They said it was muscle myopathy, but they had no other answers and gave me reading material about fibromyalgia – essentially, “we ran out of ideas so we’re going to lump you into this category with all the other pain things we can’t figure out”.
It wasn’t until we moved to Oregon and I found a PA who couldn’t take no for an answer that we finally made some progress. By that point the pain was interfering with my work and I was developing scapular winging on my right side – literally the muscles in my shoulder had seized so tightly they were lifting my shoulder blade off my back. She wanted me to see a specialist, but they scheduled my appointment six months out. I am aware of the privilege provided to me throughout my life, and to have been in a situation where strings could be pulled from across the country. They got me into OHSU four months early.
Dr. Karam actually took me seriously, and wasn’t impressed with the doctor I had seen at Jefferson in Philly. He repeated the EMG, scheduled lung capacity and ischemic forearm testing, and managed to convince my insurance to cover a second and then a third genetic workup. That was in July 2016. He called me in September with the results.
He said “you have glycogen storage disease type VII. It’s an enzyme deficiency on the PFKM gene. It’s almost all in Ashkenazi Jews. I have only ever had one other patient with it”.
Considering how much those words blindsided me, it’s impressive how clearly I remember the conversation. Five and a half years after the first doctor’s appointment, I finally had a diagnosis. A name.
Glycogen Storage Disease Type VII. Phosphofructokinase deficiency. Tarui disease. I wasn’t making it up. I wasn’t crazy. It wasn’t even my fault! He said it was an autosomal recessive disease (that means both my parents are carriers) and, as I learned later, one so rare that even modern-day reproductive medicine hasn’t standardized testing* for it, nevermind what was available to my young future parents in the late 80s.
*When two people of the same ethnic background decide they want to procreate, it is often highly encouraged to test for genetic diseases. This is especially true for Ashkenazi Jews who can pass on fatal conditions like Tay Sachs Disease and other nonsense that sucks to live with like glycogen storage diseases, though standard testing only looks for types 1a and 1b.
Basically, it’s an enzyme deficiency in my muscles. They’re missing a key that lets them turn glycogen (sugar) into energy. So all those carbs we eat to keep that workout going and get ripped… do nothing for me. Nothing good at least. The glycogen just sits in my muscles, causing a build up of ammonia and a whole lot of pain. It means my muscles run out of energy quickly (it’s pretty inefficient to make energy for your muscles out of fat and protein). It means that any muscle can swell and hurt and feel hard to the touch for hours or even days if it runs out of steam, and it also means that I’ll always have a high risk of acquiring rhabdomyolysis*. It also means that my symptoms really were related, it wasn’t just super random super bad luck that I was dealing with urinary, digestive, and metabolic issues all at once.
* Also known as “coca cola pee,” rhabdomyolysis is a breakdown of muscle tissue that is then excreted through your urine. It can cause serious damage to your kidneys. If you ever experience cola-colored urine, please seek emergency medical attention immediately.
We’re still navigating the science, there are some preliminary studies showing benefits of a ketogenic diet, and some that say consuming fruit (fructose) can help breakdown the build up of glycogen, but my treatment options are pretty limited: (1) don’t eat sugar – not that surprising anyway that Hot Pockets made me want to die, but it makes much more sense now that slow carb let me feel human again and Whole30 makes me want to fly, and (2) workout as much as you can in ways that don’t hurt – for me that means whatever doesn’t require repetitive motions, so you’ll mostly see me walking, doing bodyweight workouts, and increasing weight but maintaining lower-rep sets in powerlifting. It’s not contagious, it’s not degenerative, and it’s not terminal, but there is no cure. There’s food, and there’s pain management, but half the time they’re the same thing anyway.
Nick (that’s The Boyfriend) was the first one to say “hey you’re not going to eat carbs anymore”. That was late 2012, right after we had started dating, he was still teaching CrossFit and I was hearing about slow carb and paleo for the first time. The rest is (mostly) history… clearly he won that argument because I’ve been writing this blog for four and a half years now, but after all that debate and convincing… he was absolutely right. Dietary changes that reduce refined sugars and processed foods will benefit just about every human on Earth, but for me it was damn near a lifesaver.
So I think now, officially 29, is probably a good time to finally admit that the best way to celebrate my birthday is with food that’s going to make me feel good. Here’s to day one of Whole30 round three.
If you want some more information about my disease, guidance in navigating life with chronic illness, or better understanding someone else’s life with one, check out these links: