A half diagnosis

First off, I just want to thank everyone for the amazing support you provided after my last blog post.  I was completely overwhelmed and humbled. I tried to keep up with the correspondence, but kind of fell behind. Still, I read every single message — please know that they touched me deeply. I am equally grateful to DP’s family and the friends who have reached out to be there for him as well.

With that, here we go…be warned, it’s a long one:

Medical update

The ever-expanding medical notebook

Fortunately and unfortunately, the medical mystery tour appears to be coming to a close. I went back to the neurologist who thought it was spinocerebellar ataxia, but upon reexamination, he said he was leaning away from that diagnosis. Instead, he wanted me to see a specialist to see if it might be ALS or PLS.

Quick primer on ALS and PLS:

In order for you to move any muscle, two nerve connections have to happen: one between your brain and spinal cord (upper motor neuron) and between your spinal cord and the muscle (lower motor neuron). Amyotrophic lateral sclerosis (aka ALS or Lou Gehrig’s disease) affects both upper and lower motor neurons, while primary lateral sclerosis (PLS) affects upper only. This difference matters a great deal — while PLS is not considered to shorten life expectancy, ALS is typically fatal within 2-5 years with only 4% surviving for longer than 10 years. This is because when the lower motor neurons stop communicating with the muscles, the muscles atrophy.  Most people with ALS die of respiratory failure.

The ALS specialist I saw at the end of May concluded that it is at least upper motor neuron based on symptoms (so no need to pursue the NIH Undiagnosed Diseases Program). She repeated the EMG needle test to determine whether the lower motor neurons are being affected. While my results are still within the normal range, she saw some differences from the test I had in January, making ALS a possibility. But for now, she is just putting me within the motor neuron disease (MND) umbrella without a more specific diagnosis, which gives me access to some ALS clinical trials and other ALS resources. If I consistently pass the EMG for several years, it will be classified as PLS.

While I’m trying to be optimistic, PLS is less likely. For one thing, it’s much more rare — the ALS Society of Canada estimates that, applying U.S. statistics, there are probably 50 Canadians with PLS. It usually affects older people (median age 50.5) and has a very slow progression over a number of years. Day to day, I only see small incremental changes but I still went from a half Ironman triathlon 9 months ago to walking at 26-minute mile with a cane today.

Nothing and a lot to do

If it is ALS, there’s very little that can be done to slow progression. My neurologist started me on riluzole, the only FDA-approved drug for ALS, which clinical trials have shown to extend the lives of ALS patients by a whopping 2-3 months.

On the other hand, I’ve been cleared to exercise as much and in any way I want (hello!!), as long as I’m safe. Using my muscles can stimulate new nerve growth while keeping the muscles as strong as possible. So I’ve started swimming 2-3x a week, working with a personal trainer, and doing PT at the National Rehabilitation Hospital 2x per week. I’ve also had some great success with acupuncture to take the pop out of my incredibly tight hamstrings. And I’m signed up for an ALS exercise study at Johns Hopkins. So it’s still the equivalent of a part-time job, but at least it’s a more fun and rewarding one.

The day-to-day

How are we doing?

Well, for starters, it’s more than a little disorienting not know whether to be planning to live for 2-5 years or a normal life expectancy.

I’ve always believed that everything happens for a reason, but this has shaken that to the core. Not broken it though — even though I say seemingly contradictory things like, “look, any of us could get killed crossing the street tomorrow.”

The truth is that good people get killed crossing the street and murderers have intact motor neurons. I don’t know why, but that’s the way it is. Accepting that allows me to sidestep the “why me?” question, which would just lead to a lot of self-pity I don’t need and frees me up to accept some unexpected gifts:

Over the past two months, I’ve reconnected with friends I’d lost contact with, strengthened close friendships, and had deeper conversations with my family than we’ve had in years. To me, this is what life is supposed to be about anyway. If it took this illness to accomplish that, then at least something worthwhile has come out of it.

It’s brought DP and I closer together than ever before and taught us to truly value each day we are given. We are each other’s strength, comfort, constant companion, and ongoing source of laughter. There is so much more I could write, but I’ll leave it there. Suffice it to say that I thought he was the most wonderful man ever when I married him, but I had no clue. If this all goes downhill, I’ll still believe I am the luckiest woman on the planet 🙂

There was a point I remember thinking, “I’ll never have another purely happy moment. From now on, the best I can feel is bittersweet.” But the truth is, I actually find the happy moments purer and sweeter than they were before.

While it would be most romantic and uplifting to end on that note…I suspect there are some suspended reality gremlins at work here. If I’m feeling depressed, I can usually prop myself up with “well, maybe it’s just PLS.” But can I hold on to my current attitude if I become bedridden and have to eat through a tube in my throat? I don’t know because I really just can’t imagine.

Some inspiration

I’ve been doing a lot of reading lately and a couple of quotes have stuck with me…

One is Theodore Roosevelt’s namesake quote in Brene Brown’s Daring Greatly:

“It is not the critic who counts; not the man who points out how the strong man stumbles, or where the doer of deeds could have done them better. The credit belongs to the man who is actually in the arena, whose face is marred by dust and sweat and blood; who strives valiantly; who errs, who comes short again and again, because there is no effort without error and shortcoming; but who does actually strive to do the deeds; who knows great enthusiasms, the great devotions; who spends himself in a worthy cause; who at the best knows in the end the triumph of high achievement, and who at the worst, if he fails, at least fails while daring greatly…”


This quote helped me bridge two recurring thoughts that had been at odds in my mind. While I’d like think I’m predisposed to fight and overcome the odds through sheer force of will, that doesn’t seem to give true and due weight to the seriousness of the situation. But just accepting the diagnosis and making peace with the prognosis isn’t something I’m willing to do either.

This quote gives me permission to try as hard as I can while still being realistic…

Which leads to the second quote from Robin Roberts’ Everybody’s Got Something. I haven’t loved this book so far and was honestly kind of skimming when I hit it. She says:

“If I found myself becoming depressed, I realized that I was living in the past.  If I started to become anxious, I knew it was because I was living in the future.  I was only truly at peace living in the present.”

Yes.

Today, I can walk, talk, work full-time, type, swim, drive, travel, hang out with friends and family, shop, clean, eat, dress myself, pee by myself, breathe by myself. Actually, the only thing I can’t do is run. As much as I miss that, the list snaps it back into perspective. So I will be thankful for what I can do today and I will be brave. That I will promise you 🙂