Being told by the neurologists that I either have a very slow case of ALS or an ALS mimic shifted my outlook in a number of ways. One was renewed engagement on other aspects of my health. After getting the initial ALS diagnosis in 2018, the idea of going to the dermatologist for a check up seemed completely pointless – why worry about skin cancer if I already had a terminal illness, right? And flossing my teeth to avoid gum disease seemed comically silly. But that equation changed with the possibility I might live longer than I initially thought. So last month I made an appointment with the dermatologist. And yes, you guessed it, it turned out to be a good idea, because they found melanoma on my ear. It has been surgically removed. I am told they caught it early and I am cancer free. But it served as a reminder that those of us with ALS need to stay on top of other health issues. There may be a new therapy just around the corner that can slow or stop ALS, or we may have slow progression. Either way, we can’t take advantage of an extended lease on life if we end up sick, or worse, from some other ailment we could and should have taken care of.
I’m still not flossing, though…
Many of us with slow progression ALS encounter problems of diagnosis and/or re-diagnosis. For some, a definitive diagnosis of ALS can take years because we don’t present with typical ALS progression. Delayed diagnosis is a major complaint among pALS. For others of us, the original diagnosis may be quick, but then our lack of typical disease progression, along with other symptoms that don’t line up with ALS, can lead to a rethink of the original diagnosis. According to the ALS Association website, 10-15% of all ALS diagnoses end up being re-diagnosed as some other disease, typically an “ALS mimic,” of which there are many. This is an excellent reason to get a second opinion if your case isn’t clear-cut.
In my case, I had a speedy initial diagnosis in March 2018. This was despite the fact that my father has had a similar pattern of slow, asymmetric leg muscle weakness for the past 20 years (but not ALS), which raised the possibility that I might have some other nonfatal, inherited neurological condition. When I changed ALS clinics in September 2020, the new team of neurologists were intrigued by the parallel symptoms with my father, and noted enough anomalies in my case – including the very slow and limited disease progression, as well as other symptoms – to propose exploring a re-diagnosis. After running additional tests, the results were inconclusive, so for now, and possibly well into the foreseeable future, I remain diagnosed with “atypical” ALS, with the proviso that the diagnosis will be periodically revisited as more evidence accumulates.
As you can imagine, the possibility of being re-diagnosed with a non-fatal ALS mimic was head-spinning, and then learning that the test results were too inconclusive to warrant a re-diagnosis was a let-down. But the fact that the door to a possible re-diagnosis is still open gives me hope. I keep coming back to that figure of 10-15% of all ALS diagnoses being false positives. That’s a lot of people each year (600 to 900 in the US alone) who were told they have ALS but who later learn they have some other neurological disease or condition (This works both ways — a much larger number of people are originally misdiagnosed with some other condition and then later learn they have ALS). And there must be many people like me, who have an ALS diagnosis but whose symptoms are “atypical” and who live for years with some uncertainty about the diagnosis. This is unavoidable for a disease diagnosed by process of elimination.
Living with uncertainty can be very hard, especially when it involves a diagnosis of a terminal illness. But for now, at least, I feel comfortable with the ambiguity. The uncertainty is a source of hope. Each month without changes in my condition is another small piece of evidence that just maybe I have some other rare but non-fatal neurological disease. Time will tell.
Like many pALS, I had a chest port surgically implanted to facilitate monthly infusions of Radicava, which is a therapy that appears to slow disease progression down for some people with ALS. I had mine implanted in fall of 2018. In March 2020, a topical infection – just a pus pimple – appeared at the injection site of the port during treatment. That happened two more times over the summer. Each time, it was diagnosed as a topical infection, I was given antibiotics, and it quickly cleared up. But the recurrence was troubling, and my neurologist and I agreed that if it happened one more time I should have the port removed. The concern was that if the infection made its way into and past the port, it risked becoming a blood infection, which could lead to sepsis, which is life threatening.
One evening in late September I was watching television when I suddenly began shaking, got very cold, and started having trouble breathing. The shaking was uncontrollable. After ten minutes of this we called 911. Long story short, I ended up in an ambulance, the ER, and then four days in the hospital with a blood infection. I was completely exhausted by the episode, and felt miserable. Luckily the antibiotics worked to clear it up and it never developed into sepsis. The doctors suspected that the chest port was the source, and so we had the chest port surgically removed, and I am now done with Radicava treatments. Time will tell if going off Radicava impacts my ALS progression. For now it hasn’t. The lesson for me was that each person living with ALS has to make a decision about whether the anticipated benefits of Radicava justify the infection risks of a chest port. For me, the risks got too high.
Over the past five months I’ve been schooled on a number of (mostly) ALS-related health issues. Here I share what I’ve experienced and what I’ve learned, for the benefit of others living with ALS who come across this blog. Spoiler alert — this story has a lot of more-or-less happy endings.
Fatigue is very common with ALS, as our muscles are working a lot harder in their weakened state. Sometime in late June or early July, I started experiencing deep, chronic fatigue. I was bone tired, I needed a nap a day, and never felt rested. This was a big drop off from my normal energy levels. And this went on all the way into September. At first we thought it was COVID-19, but I tested negative twice. Then I thought it’s a new phase of ALS, my “new normal,” which was very discouraging. Others asked if I was depressed – in the midst of COVID everyone was feeling blue, so maybe the tiredness was a symptom of mild depression. I also wondered if it was in part caused by the stress I’d gone through in June, when I got caught in the middle of a nasty spat in the ALS community over a house bill (HR7071) proposing to fund expanded access to experimental therapies. Or maybe it was a combination of all of those.
Whatever the case, the fatigue was debilitating. Psychologically it was the worst I’d felt since I first got the diagnosis.
But it turned out to be (we now think) something else entirely – a low grade blood infection that became a full-blown medical emergency in late September. Once the blood infection was cleared up, my energy levels returned to normal and the fatigue problem, thankfully, was gone. The lesson for me was not to assume every health issue I experience is somehow linked to ALS progression.
Today I posted on facebook (which I don’t do often) that I spent my 60th birthday playing golf on a beautiful fall day. I got a lot of nice birthday greetings in response, a couple of which marveled that I was still able to play golf despite having ALS now for four years. The confusion is understandable – our messaging about ALS is that median life expectancy is three years. If, statistically, I shouldn’t even be alive, how am I well enough to play golf?
The answer is that I appear to have a “slow progression” version of ALS. No one knows why, but a fraction of people with ALS (about 10%) live 10 or even 20 years. The fact that my ALS symptoms are still confined to my legs, and my leg strength has not really changed much in 18 months, is a clear indication I have slow progression. That is no guarantee it will continue that way – my condition could change for the worse at any time. But for now it has allowed me to proceed with my life with only minor adjustments. I am still working full time; I can walk a mile or more at a time, slowly, using only an ankle brace (though for long walks I use a roller just to be safe); and I can play golf as well as I could before (which is to say, still not very good). The AFO (foot ankle brace) is a huge help in keeping my weak left foot and ankle stable while I hit and walk In some ways golf is the perfect sport for me now, as it involves walking a lot, but for short distances, and then sitting in the golf cart, which gives my legs a quick rest.