Stuff Keeps Happening

So! Today is the last day of the first run of Radicava. I’m confident at this point that any side effects are tolerable, and I want to continue. The only potential things I’ve noticed is that there MAY be an uptick in the frequency/severity of my headaches, but it’s nothing I can’t tolerate, and there’s been a few times when there’s been a weird panick-attacky feeling, where my heart is beating in my throat, but that always goes away. Labs will be drawn to make sure I’m not experiencing anything serious, of course, but my own internal feeling is that everything’s GO for continuing.

Whether this is even doing any good, I won’t know until March, the next Clinic Day. But it’s not hurting anything, so we’ll keep it going. This also means I’ve asked to go ahead with the port install. It will be a vast relief to no longer have these tubes coming out of my arm that need babying, not least of which is because the adhesives that protect the PICC line itch like a MOFO.

Since my fall last Tuesday, I’ve noticed my hip hurting a bit, one spot particularly. I kept expecting a bruise to form, but it never did. Two nights ago, I was pushing on the spot, to figure out exactly where it hurt, and my fingers found a hard lump that rolled around a bit under my skin at the joint. And I remembered wayyyyyyyyyyy back at the beginning of my Godzilla Disease diagnosis attempts, how we initially thought the problem was in my hip, and then I got an MRI, and the MRI showed a small tumor thing in my hip meat. It was deemed medically uninteresting, though, and ruled out as the cause of my woes. I was told that it had probably been there, like, forever, and wouldn’t be a problem, but maybe keep an eye one things and recheck it in a few years.

I guess, yeah, it’s been a few years, so it’s time to get the dang thing rechecked. So THAT will be fun, as I can’t really get up into MRI machines these days. I’ll make an appointment soon. One more damn thing. I’m sure it’s fine, but dang, man.

I’ll let you all know when I get the port installed. 😀

My Medical Posse

I’ve just done the math and figured out that I have seen 22 different medical professionals over the course of things.

Primary Care Physician – whom I first reported the problem, who ordered some blood work with…

Phlebotomist #1 – and also an x-ray from the…

X-Ray Tech – but the images were normal so I was referred by my PCP to the..

Physiatrist – who asked for an MRI with the…

MRI Tech – who sent test results back to my physiatrist, and because there was an anomaly I was sent to see the….

Orthopedic Surgeon – who decided the anomaly was unrelated and sent me back to my physiatrist who then referred me to….

Neurologist #1 – who did preliminary testing, and then referred me for an EMG with with preliminary bloodwork from the…

Phlebotomist #2 – who did the first round of blood draws – sixteen tests over six vials, but I hadn’t been told I needed to fast for one test so I had to make an appointment to see the…

Nurse – who dealt with my glucose tolerance test (melted otter pops never tasted so gross) and then I was free to see the….

Neurologist #2 – who did the EMG and asked for an upper spine and neck MRI with the….

MRI Tech #2 – who did her job spectacularly and then the results came back to the neurologists but they were baffled so I was referred to…

Neurological Specialist #1 – who was completely baffled and surrendered me to…

Neurological Specialist #2 – who has become my guide and ally through all of this, and she did more EMG pokery and sent me for more blood work with…

Phlebotomist #4 – but those results were normal too so we opted for a very expensive genetic test which required a blood draw from…

Phlebotomist #5 for Athena Diagnostics – and while we waited for that result, I was referred to weekly physical therapy with..

Physical Therapist #1 – and the next week with…

Physical Therapist #2 – and the next week because of terrible weather with…

Physical Therapist #3 – and sometime in there the results came back negative so I was sent off to see the….

Spinal Tap surgeon – who put a fucking NEEDLE IN MY SPINE (tho it seriously wasn’t that bad, House lied to me) and the tests were all normal and meanwhile I had a consultation with…

Physical Therapist #4 – who was called in to do consultation work on me with PT #2, and my doctor referred me to get a biopsy done with…

Surgeon for biopsy – who did the cuttery which led to test results which led to my diagnosis.

..And yesterday I added a technician with a medical prosthetics company to my menagerie.

There will be more, of course – there will eventually be a dietician and a speech therapist and a host of other people. But for now, my posse is 22 strong.

The Road to Diagnosis, Part Two.

Electric Boogaloo.

When we last left our intrepid adventuress, she was…pretty much where she started!  But now had orders for a full spinal MRI and a referral to an amazing specialist.

Symptoms now were a pretty obvious ‘gait disturbance’ – I’d started to have coworkers asking me if I’d hurt myself.  Another one pointed out that I had a tendency to lean against walls when I walked, which I didn’t notice until he said something.  I didn’t HAVE to rely on the wall for support, I could still walk fine on my own, albeit with a limp, but I guess subconsciously I wanted that support.   The thigh twitches were constant, sometimes so bad I could watch them happen through a pair of jeans when I was sitting.  The cramps had stopped happening just at night, and had started randomly happening for the stupidest reasons.  I’d try to sit cross-legged on the floor and NOPE SORRY YOUR THIGHS ARE GONNA CRAMP LIKE HELL NOW OK.  But if I just stretched through it, I’d be able to sit cross legged no problem.  I’d wake up at night with terrible cramps because I let my foot lean off to the side while sleeping on my back because that is what it DOES when you are relaxed and sleeping, but no.  I’d have to wake up and roll over.  Because I was cramping.  From sleeping in a relaxed position.   Occasionally I started getting cramps in my stomach and sides, too, like a running stitch.  There was still absolutely nothing wrong with my hands.  No slurred speech or anything.   I was noticing definite muscle tone loss in my calves.  Handrails on stairs were now kinda mandatory.  Elevator over stairs every time. 

I really, really missed dancing.

It was also around this time that I started having to tell people that something kind of serious was going on.  I agonized over how to tell people that wasn’t a five minute origin story out of a lame comic book for the world’s worst superhero, or a overly dramatic “I AM BECOME CRIPPLED.” 

“Did you hurt yourself?”

“Well no, about a year ago I found out I have a hard time running, and then it’s sort of progressed to this constant limp but we don’t know what’s actually causing it but nothing hurts and we’re figuring it out but so far it seems to be some sort of neurological thing.”


“I’m losing my ability to walk.”

Both are factual, one’s boring and long, one sounds so much worse than it actually was. Probably. I hoped.  The previous sounds like an apology, sorry to bother you but I’m okay really thank you for asking I’m sure it’s nothing to worry about at all but thank you for noticing and asking after me how are you? The latter is some pretty harsh words, which are then followed up immediately by “BUT IT IS PROBABLY NOTHING AND TOTALLY REVERSIBLE I’M SURE IT’S FINE.” I’ve also used a sort of dismissive “I’ve got some sort of neuro thing going on” which is…open ended and ambiguous enough to be worrying.

One total stranger guy asked if I’d hurt myself moshing.  Because LOLZ I HAVE PUNKY COLORED HAIR AND TATTOOS AND MOSHING IS WHAT US YOUTHS DO AMIRITE?  I felt like telling him, no, I’m just so fucking punk rock that my neurons are burning themselves out.

…I still haven’t worked out how to drop this on people when they ask. 

So ANYWAY!  MRI.  That happened.  I went to see the awesome specialists’ colleague instead, because awesome specialist mostly dealt with ALS.  I was happy to be taken off her plate if that were the case.  The new to me specialist was baffled, some more.  She wrote me up as “Diagnosis: Remains unclear at this point. Considerations include peripheral nerve disorder (Charcot Marie Tooth, hereditary) vs motor neuron disorder (Spinal muscular atrophy vs ALS variant) vs less likely primary muscle disorder.” I continued to be an enigma.  I wasn’t a good candidate for ALS because it was only in my lower limbs, and progressing so slowly.   But it was probably not multiple sclerosis, or muscular dystrophy, maybe it was Charcot Marie Tooth (which I started calling sharktooth marie because they SORELY missed that opportunity themselves when they wrote it up).  In the end, she conceded defeat immediately, and talked to her colleague, the one I’d originally been referred to but was not accepting new patients except for ALS.  Worrying.  I guess I was intriguing, though, because she took over my case.

This is how I started working with Dr. Kimberly Goslin, who is amazing.  Every doctor I’ve dealt with had agreed with me.  The neurologist I’d initially seen told me she was doing amazing work, when he referred me over.  I was also referred to physical therapy, just in case it was reversible with some work, and my physical therapist noted who I was working with and said, “OH!  She’s REALLY good.”  I wound up seeing three other therapists there, and they ALL commented that she is good.  The neurologist I saw instead of her seemed relieved that Dr. Goslin agreed to take my case, like she was bowing to a far superior talent. 

In the meantime, I had all of the blood tests I hadn’t already done, and a redo of a couple of them, like my creatinine kinase, which is an enzyme present when there’s muscle damage.  It had been high before, so they wanted to see if it was getting worse.   I had a referral to a physical therapist to see if I needed some kind of walking assistance by way of braces or cane.   They didn’t see a need for it yet, because I could walk without falling or anything on my own.  My balance was still good.  The actual therapy exercises focused on strength building – we didn’t want to overexert me and burn out neurons if it was something degenerative, but we wanted to do SOMETHING, so my exercises concentrated on making the muscle that I still had stronger, so there was more power to call on when I needed it.  I discovered in my initial appointment that my foot had a tremor, which was new. 

I met Dr. Goslin in November of 2013and had more stabs and shocks.  I am now an electric voodoo doll.  She redid all of the usual tests about strength and balance, and then poked me with electric needles.  She said the most likely candidate at the time was Sharktooth Marie, which there was a test for, but it was crazy expensive and hard to get approved.  We went ahead seeking that approval.  It was the best option, too, out of the remaining possibilities – still degenerative, still me in a wheelchair, but not dead.  In the meantime, while we waited for approval for a $15,000 genetic test, we talked about other avenues of investigation.  A spinal tap, maybe, a muscle or nerve biopsy.  More blood work, just to rule out everything ever.   Luckily my insurance was/is awesome because I work for a really good company, so the testing was approved.  We started mixing in e-stim with my physical therapy, which seemed to help a bit. 

In December I noticed a slight tremor in my hands.  It seemed to be sporadic, and it didn’t really show unless I was holding a mirrored compact or something.   No loss of strength at all, just, a little wobbly when trying to hold a camera still.  My PT wasn’t too worried about it as there was no loss of strength, and it wasn’t a horrible tremor.  Might have been there for awhile, but I only noticed now because I was sensitive about changes to my hands.  Still no fasciculations in my arms or hands.  Still breathing fine.  Still swallowing and speaking normally.   I had the followup with the orthopedic surgeon about the thing in my hip, and that was unchanged and fine and I can safely ignore it.   The twitching and cramps in my legs were starting to interfere with sleep at this point.  It’s like when you’re about to fall asleep and you have that quick little dream about falling, so you wake up.  Only it’s just your legs.  Obnoxious.

In January 2014, I got the genetic test for CMT done, which came up negative.  Dammit.  I saw Dr. Goslin for the second time and she noted no loss of strength since the last meeting, and she didn’t seem too worried about the hand tremor, but she noted it.  Our next step, she decided, was a spinal tap, which I had done January 17th.  It was…interesting.  Certainly not pleasant, but no where NEAR as horrible as House makes it seem to be.  Definitely not the most painful thing I’ve ever been through.  The spinal headache I got following the procedure was annoying as hell though, and lasted about a week.   All of my CSF tests came back normal.  So it was definitely not MS, not an infection, not a host of other things. 

My follow-up appointment in March wound up with a  referral to a surgeon for a muscle biopsy.  There was a 70% chance it wouldn’t tell us anything, I was cautioned.  But at that point?  A 30% chance is far preferable to no chance.  Some information is better than no information.  At this point, my diagnosis was hovering between it being a motor neuron disease like ALS or a motor neuropathy.  It might be MND because: I’m a lot younger than most people who get diagnosed with ALS. It’s only attacking my feet/legs. It’s progressing slowly.  It might be ALS because: MNDs don’t typically include fasciculations (the twitching), but it’s very typical of ALS. We found out in this appointment I also have slight hyperreflexia in my jaw – which is a tendency to snap my mouth closed when my chin is tapped. Which I did not know about until that day.  We talked about immunotherapy as an empirical trial, just in case it was some inflammatory disorder – it couldn’t hurt, and if it helps, then hooray!  We talked about either a steroid like prednisone or IVIG therapy.

We also tried me on klonopin to try to control the twitches, which turned out to be a DREADFUL MISTAKE.  It spiraled me into this horrible horrible depression, so we backed the hell off of that after one week and never spoke of it again.  After the biopsy, I was to be referred to PT specifically to talk to them about ankle-foot orthotic devices – in the biz, we call them AFOs – and revisit that option to help me with the fatigue when walking long distances.  Like the mile I walk to the bus stop every day to go to work. 

I had the biopsy March 12th.  It came back showing signs of significant active denervation. “What this means,” Dr. Goslin said in an email, “is that there is evidence of ongoing damage to your motor neurons. There is no evidence of inflammation; I had been hoping to see inflammation which is more treatable. As discussed, we will repeat the EMG when I se you next and talk about whether we should consider a trial of immunotherapy.”

I had my appointment to try out AFOs on March 28th.  THEY ARE FUCKING AWESOME.  Oh my GOD the difference. 

My follow-up with Dr. Goslin was initially set up for April 3rd.   She got the full results of the biopsy, while I had been emailing her asking her about the klonopin and could I get the fuck off of it please.  Can I just state, for the record, that being able to email my doctor IS GODDAMNED AMAZING.  I LOVE THAT.  We had a little bit of back and forth in that conversation, and she asked if I wanted to move the appointment up; she had an opening on Tuesday.

I said yes, please.

It hit me after, that my appointment was now on April Fools’ Day.  I posted something to facebook on the way to the doctor’s that no matter what the result of that appointment, people would think it was a prank.

I was officially diagnosed with ALS at that appointment.  I wished it was a prank.  But it wasn’t.  And this is my life now.

My suddenly finite life.

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?”

“,” 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.