The Road to Diagnosis, Part One

I tell people it was around November of 2012 when I noticed something was awry.  That might be a lie, though, I don’t really remember the exact time.   I just remember what happened.  I was walking to work that morning, and crossed the street while a car waited for me to do so.  I’m a polite pedestrian, so I hustled a bit – or..tried to.  I tried to jog out of their way, but it was like I’d forgotten how to mechanically make that work.  It wasn’t really a jog, more like a spastic controlled…flail? My legs just did not go how they were supposed to go. I didn’t fall, it didn’t hurt, there was just something clearly mechanically wrong with the way I was moving; like I’d forgotten how to run. It kinda freaked me out, but of course I shrugged it off and didn’t do anything about it.

It got weirder after that, I noticed that anytime I tried to jog that same thing happened, and if I tried to walk fast, it’s like I was physically unable to move that quickly. Any attempt to walk fast turned into a robotic sort of stomping.  Then I noticed that I got worn out really easily when I walk; and truthfully, that was the most irritating part. It was only a little over half a mile from my house to the train stop, but I was covered in sweat by the time I get there, even on cold mornings.   Again, no pain, nothing felt awry, just…a weird little dip in my right hip when I walked, a little bit like a pimp walk.   It would have been easier if there HAD been pain, something concrete to point to, besides “I feel like I’ve forgotten how to run”.

May 31st I finally went to see a doctor about it.  She agreed it was very strange that there was no pain, and agreed that it WAS a little bit of a pimp walk.   “Which is fine, if you’re a pimp, but does YOU no good,” she said, and that is why she was my favorite PC doctor of all time.  We thought it might be hip dysplasia, so I was sent off for x-rays.   I was worried about that being the case, since the only fix for that is surgical, eventually.

Oh, younger me.  How you’d come to WISH that had been the problem.

It was around this time that I bought a house.  Because, I guess my life wasn’t complicated enough?  So in the months to come, in addition to juggling work and school and medical appointments, I was dealing with a short sale of a 2 story house, and then a month of preparing the new house to move in and packing up my old place.  I should mention here, that I don’t drive, and I live alone.  So after work every day, I’d walk the just over 2 miles from my old place to the new one, work on it until dark, and then walk home.  My older brother loaned me his bike, so I didn’t have to walk at least, but trying to ride it home that night did NOT go well.  I could not keep my balance for the life of me, and pedaling the bike, while on a slight incline, was impossible.  I wound up with a migraine (which I am prone to), disoriented and lost (which I am NOT prone to, but hey, migraines make your brain not work), sitting on some stranger’s curb while I got my bearings.  I chalked that up to “I have not been on a bicycle in like 20 years and they are scientifically proven to hate me”, and walked the bike the rest of the way home.  I knew that walking back and forth would not be an option forever, particularly because my new house was a mile from the nearest bus stop, so I made plans to get a scooter license and signed up for lessons.

They did not go well.  In retrospect, it’s totally obvious what was going on, but all I knew that Saturday was that I was the ONLY one unable to keep the motorcycle upright.   At the time, I was not sure what happened, exactly, but I lost my balance and the bike was heavy and took me down with it.  Over the course of the next hour, I dumped the bike over on me three times, skinning the hell out of my knees like a six year old, because (again, I realize now) I did not have the strength in my feet to keep myself and the bike upright.  I left the lesson early, humiliated.   Only now, I realize that I had something really serious going on and it wasn’t just that I was clumsy. 

The x-rays came back normal, so there was no hip dysplasia, so I was sent off to a physiatrist.  I had two sort of falls around this time – once, I was stepping up on a tall curb, and I couldn’t/didn’t lift my foot high enough while walking over it and wound up on my knees.  Not hurt, really, just really, really confused.  Another time I was helping my friend move a 135 pound flatpack desk into my house, and I was giving him grief for making me walk backwards up the stairs with it, he said HE was the one with a bum knee. “I’m the one with …whatever the hell is going on with me,” I told him, as I was walking backwards over the threshold. And then as if to prove it, I just kinda…sat down. I couldn’t lift my foot high enough to clear the step. There wasn’t a twinge or anything, just, suddenly didn’t have the strength to walk.  At that point, I could stand just fine, indefinitely.  I could balance on either foot with no problem.  Walking up stairs was beginning to be a little rough, I found myself using handrails more often than not. 

It was sometime around here that the fasciculations and cramping started.  The cramps only happened at night, mostly my calves, like the worst charlie horses.  I don’t know when the twitches started happening, only one day I realized that they’d been going on for awhile, almost exclusively in my thighs.   Some nights would be awful for cramps, then I’d go for a week or two with nothing at all. 

The physiatrist was baffled.  No pain, just a hitch in my walk, no apparent weakness.  I went for an MRI in August, which found a little lump in my hip, and we really thought we’d found something – cancerous, maybe, but dammit it was an answer!  Only the orthopedic surgeon I was referred to said it was almost certainly nothing to do with anything and had probably been there my whole life.  We made another appointment for a followup MRI in December, just to make sure it wasn’t growing, but she advised I proceeded with other avenues in the meantime.   We decided to pursue it as a potential neurological problem, and I had my first neurologist appointment in October of 2013.  Sometime between making the appointment and having it, I discovered on my own that I didn’t have the ability to stand on my toes anymore.  I could pull myself to my toes if I gripped a counter or something, and stay there for a couple of seconds, but I couldn’t stand tippy-toes on my own.   During the appointment, we discovered that my feet don’t sense temperature very well – which I’m STILL trying to figure out the relevance of that.  They can feel pain and vibration and everything just fine, but the cold tile floor and his instruments felt warm to my feet.  Curious.  He didn’t have much by way of answers, so he asked me to do an EMG with a different specialist and a whole lot of blood tests to rule out things like diabetes.

So the nerve study was unpleasant. It’s not unbearable, by any stretch, but man. He did a couple of the usual tests to get a baseline of the problem – walk down the hall, pokey with a safety pin to gauge sensitivity, that sort of thing. He remarked with surprise that my feet were icy cold. He checked reflexes, of which there are practically none in my ankles, and told me that there are practically no muscles in my feet at all. I mean, they’re THERE, but they’re really weak. “You have thin feet and high arches. Has this been a problem for long? Have you always had some weakness in the feet?”

“Uh..no,” I told him. “I used to dance. A LOT. Almost exclusively on my toes.”

We moved on to the unpleasant. He warned me about what was going to happen, and apologized in advance for the discomfort. “I may want to put some needles in, to measure the current in your muscles.”

“Well, you can see I’m not afraid of needles,” I told him, waving at my facial piercings and tattoos.

The tests were done on my right foot, ankle, and calf.  He asked if I ever had twitching, I told him they were happening right now – he looked for a second at my other leg and said, “so they are.”  He had no solid information for me, only that he wasn’t sure that the other neurologist’s tentative diagnosis of motor neuropathy was correct.  I had no decreased sensitivity to my skin, I still had sensation, which is not indicative of nerve damage so much. I had normal strength in my legs, but almost none in my feet. There was also decreased reactiveness to the muscles from the nerves. He’s not sure what to think.

I don’t like hearing that from doctors. 

He told me he’d like to see me again. 

I don’t like to hear that from doctors, either. 

Even if they have delicious British accents.

The only thing he was certain of was that it was NOT myopathy.  But he wasn’t certain about any other aspect of it, so he wanted to do some upper limb testing.  Just to be sure.   After the upper limb EMG in November, he conceded that he had ABSOLUTELY no idea, so it was off to a full spinal MRI and a referral to another neurologist that dealt exclusively with neurological disorders rather than general neurological surgery.  She was amazing in her field, he said, and she’d be the best person to work with further.

This is about the time I began to admit to myself that I might actually be in some serious medical trouble.  Up until then, I’d thought it was a pinched nerve or something stupid, something easily corrected.  Like the doctors would just get a lightbulb over their head and Dr. House it out of my life.  We’d sort of talked about some of the possibilities, worst worst case, and of course ALS came up as a potential.  He said it wasn’t looking that way, though, since it was just affecting my feet – it usually starts in both hands and feet.  But he wanted me to know it was still out there.  But maybe he was wrong and it was a motor neuropathy after all?  But he’d defer to the specialist, because the two of them have come to the end of their skillset. He posits that it is (possibly maybe perhaps) a spinal injury or disease of some sort, or something like a moto-neuro disorder. Like Lou Gehrig’s. He was quick to say that this was just one of the FAMILY of disorders it might be, he’s not saying that it’s that. Buuuuuuut didn’t say it wasn’t, either. He was very frank and said that he didn’t want me to think he was withholding any information from me, but he just didn’t know, and he admits that it might be something along those lines. 

PROTIP TO DOCTORS:  DO THIS.  Be frank and open and upfront and honest.  Seriously.  This prepared me for what was to come, and saved me SO MUCH ANGST.  Because by bringing this up now, as a possibility but not a probably, he planted the seed in my head and I started thinking about it.  At this point it was a sort of safe, intellectual exercise.  It was very much on the table, but it wasn’t looming over me immediately, so my brain had time to play with the idea of dying prematurely, of what would happen if I were diagnosed with ALS.   I discovered that night through thinking about things when I should have been getting to sleep, that I am – on a very intellectual level anyway – okay, really with the idea of being in a wheelchair someday. I can think about that without freaking out. It  would suck. A lot. But I could adjust. I think my most pressing problem would be not running over the cats accidentally. And having to sell the house and move again, because – 2 story, dammit. 

But then I thought about losing use of my arms, since the neuros seemed baffled that I haven’t lost strength in them; I wondered if it will happen eventually, if it’s something scary. And I freaked out. I am VERY not okay with that. I can deal with not walking ever again, but…not being able to type on a computer, pet a cat, bake cookies, no. I’m not okay with that at all. So I stopped thinking about it.  I’m actually glad I found that limit, though, so I knew that I’m not just handling this really awesomely because I’m in flat-out denial. That’s a good thing.   But the problem with the scary ones is that they’re differential diagnosis – meaning, there’s no one test that says YES IT IS THIS THING.  You have to dig around the outside and find out what it ISN’T.  And meeting this specialist was the first step towards that. 

That’s where Part Two starts.  Spoiler Alert: it starts with an MRI and ends with ALS.