Genetic Go Ahead

As you may or may not remember, I was formerly denied genetic testing that would show if I had the genetic markers that would show if I’m a good candidate for trials. Since I’m on a different insurance plan, I asked if we could try and get approval again. Cigna said no, maybe Providence would say yes, since their own doctor fought so hard for it last year.

They said yes!

I’m not sure how much my portion of it will cost. I don’t really care, to be honest. I’ll afford it. There is a lot of exciting research being done right now, some promising results, and I’d love to be a data point among them.

I’m looking forward to having more information. To BEING information. I hope the tests allow me to participate. I hope I can be useful.

I hope this diagnosis is good for SOMETHING.


Dr. Goslin’s sidekick, the amazing and trusty Donna, emailed me this morning.

“Cigna denied the prior authorization request for Athena. Dr. Goslin did a peer to peer review, and they still denied it. It is unfortunate that this got dragged out so long, only to have them deny it in the end. I am sorry.”

Athena, of course, being the company that does the genetic testing. We were going to see if I had the markers to allow me to participate in the bulk of clinical trials going on. And Cigna said no. Even after Dr. Goslin explained to their faces why it was important. And it IS important.

I feel defeated. Like…this test? And the ability to participate in the best research going on? It gave me hope that maybe my fucking disease might be USEFUL to someone. We won’t see a cure for this in my lifetime, but goddammit I wanted to be a datapoint at least in GETTING there. I want to HELP.

I don’t know how much the test costs. The last one was nearly $12,000. So yeah, I won’t be able to just DO the test on my own. I am beyond frustrated. I am angry, defeated, disappointed, crushed, depressed, all of this and everything else.

I want this fucking disease to mean SOMETHING to SOMEONE. To get SOME good out of it. To be useful.

And now instead of having the chance to be a data point, I’m relegated to be a statistic.

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.