Patient Guide to Spinal Muscular Atrophy

Living with Adult Spinal Muscular Atrophy

The message Mark Aldrich wants to send to others with spinal muscular atrophy type 4 is: Keep going. Live your life.

Mark Aldrich is a sharp, thoughtful 52-year-old writer living in New Paltz, New York, an artsy college town with hippy aspirations, two hours from NYC. In his mid-30s, he began experiencing slight balance issues, stumbling here and there. Mark pushed it out of his mind, but by his late 30s, he noticed his gait was different and he was moving more slowly.

Mark was first misdiagnosed with a fast-moving degenerative disease — only to be told a year later that he actually had spinal muscular atrophy (SMA) type IV. He shares his story hoping that it might help someone else struggling with similar symptoms find help more quickly than he did.

Mark Aldrich has adult spinal muscular atrophy type 4Mark Aldrich is the only person he knows who has SMA type 4.

When were you diagnosed with spinal muscular atrophy type IV?

In 2012, my first neurologist diagnosed me with late-onset Friedreich’s ataxia, a spinocerebellar disease that affects neuromuscular function. He said, “You have a genetic disease. What a terrible thing to learn you have in the middle of your life.”

FA is a progressive, degenerative, fast-moving disease that affects balance and weakens the legs. When I was given this diagnosis, I walked out confused about the condition — there's no trifold brochure you can hand someone. I realized I wasn't quite 45 but that I was probably not going to live to be 60.

A host of different exams were recommended, including a genetic test for Friedrich’s ataxia. Before insurance would approve the genomic testing, I had to go through a battery of other scans, pokes, and prods. My entire spine and brain were imaged, and I had a million blood tests done (some items tested for were so obscure, they weren't on the lab's pull-down menu), MRIs, CAT scans, nerve tests, EKGs, EMG test to listen to nerves, and other neurological exams. I never did get the genetics test because, in May 2014, I saw a second neurologist, and he corrected the first diagnosis to something else — spinal muscular atrophy type IV.

Friedreich's ataxia, my first diagnosis, is marked by a significantly shortened lifespan and was a diagnosis that led to more than a few nights of lying awake, staring into the darkness, and contemplating the beyond. For the year I lived with this diagnosis of FA, I became part of the Friedrich’s ataxia support community — and I am still in touch with some of the folks that I met through that network, who have sadly progressed in their illnesses. So, it was with some relief that I learned that I had SMA IV — a rare disease when it strikes adults, but with a relatively gentler, if still challenging, prognosis of ever-decreasing mobility.

My daily existence is unchanged by either diagnosis but knowing that I might now live a more normal lifespan is a gift. My disease has led me to deeper friendships and more patience — and I laugh at myself more. I have to.

What symptoms did you have, and when did they first appear?

I experienced my first symptoms in 2006, or perhaps earlier, I now realize, when my walking began to slow. I was always a fast walker, but despite moving my legs the same way I had always moved them, it took me longer to complete familiar walks. Even in 2005, I noticed that it took me longer than it once would have to mow my friend’s lawn. My legs were tiring more easily,

By 2008, the bizarre sensation of always being on the edge of a fall became part of my existence. To walk across a parking lot, I had to first look across it to pick which cars I'd use as supports for my unsteadiness — or look for an abandoned shopping cart to use like a walker. I soon started walking with a cane.

I began to run late for appointments because I was perpetually underestimating how long it would take me to walk somewhere. I did not share what I was experiencing with anyone.

Did you speak to your doctor?

Being 40ish and male, I wasn’t inclined to see a doctor — but I finally did some time later. My feet felt like they were in boots nailed to the floor. I'd go to take a step, or at least my brain would send the signal, only to peer down and find that, to my surprise, neither leg had moved. The way my disease manifests, it's in my calf muscles, which renders me somewhat top-heavy. My balance issues and walking challenges didn't resolve but instead got worse. I came up with my own way of walking, a defining characteristic that I can hope to put to use, representing the idea of being disabled but persevering through the challenges.

In 2011, circumstances conspired such that I qualified for Medicaid and was now able to properly seek medical care. I went to see a general practitioner who thought I had balance issues and referred me to a neurologist. With Medicaid, I could afford these visits and the subsequent tests that eventually led to my diagnosis.

How did you feel when you were finally diagnosed with SMA4?

Spinal muscular atrophy is a genetic, neurodegenerative disease, which in most cases affects infants or children — but not in my case. The vast majority of SMA stories are exceptionally heartbreaking.

SMA Type 1 strikes infants who can never control their own movements and eventually suffer respiratory failure, dying before age two. The second type of SMA develops in toddlers before they turn two and leaves them unable to walk — though most SMA type 2 patients do live into adulthood.

Type 3 and 4 are considered "late-onset" and present lifelong challenges of impaired and deteriorating mobility, and at some point, respiratory difficulties. There is some debate about whether there is a type 4 at all, but since my symptoms slowly began in my mid-30s and accelerated after 40, I seem to be the very picture for having a separate type 4 category. Yes — my spinal muscular atrophy is degenerative. It affects my balance as my lower legs are weakened, and is life-changing —but in my case, not necessarily life-shortening since onset was so late  (unless I fall into traffic because of it — some gallows humor!).

But I don’t know anyone else who has SMA type 4, so I actually feel far more isolated with this less terminal diagnosis than when I thought I had Friedrich’s ataxia. I'm the only person I know with it and, as a result don't do a lot of advocacy with SMA groups.

Wait – you don’t know anyone else with SMA type 4?

No, I don’t. I’m kind of the hole in the donut for the SMA community, because while I’m disabled, I’m not as disabled. No one's ever said that or made me feel that way — that's my interpretation.

I had not been someone who sought out community, but when I got sober ten and a half years ago, I had “community” handed to me. And the light went on: “Oh, community — that’s a good idea!”  It contributes to a sense of purpose for me to see myself as part of the greater disabled community and work to raise my voice in that direction rather than focusing on more SMA-related issues.

How much did you know about SMA before you were diagnosed?

Nothing. I grew up watching the Jerry Lewis Muscular Dystrophy telethons. Many children and young adults that were on the program through the years had SMA type 2. For all the good that his telethon did, I never walked away with an understanding of what they were raising money for — it was only later, after my diagnosis, that I looked up the Muscular Dystrophy Association to learn more about neuromuscular disorders.

What is movement like for you today?

I use a cane, that I named “Michael,” as in the actor, Michael Caine. I have to "think" my walking, plan a step, and execute. Then repeat. Each stride has two main parts to it: conscious thought — leg, move. And then, hopefully, movement. I've had the experience, and it's kind of shattering when it happens, where you go to do something, you know the signal was sent from your brain — move your left leg, move your right leg — but then the leg doesn't move. Whenever that happens, it’s a little bit of a gut-punch feeling. Over the years, I’ve come up with my own way of walking, which is how I still move today.

What treatments and therapies were initially recommended?

Live my life. Be active. No medication was offered. I'm aware that there are now pharmaceuticals out there that were not available when I was diagnosed.  

What treatments and therapies are you taking/using now?

I’ve never taken medication for my SMA.

Are you using any complementary healing modalities like acupuncture, massage, mindfulness techniques, or others?

I’m living. I try to keep physically active. I had a couple of dozen visits to a local physical therapy center covered by insurance, but they didn't know what to do with me. And I didn’t know how to tell them what I needed — because I don’t know what I need either. I’m in New Paltz, a small town in upstate New York, and physical therapists here are probably used to dealing with injuries or age-related mobility challenges.

I've gotten acupuncture for general wellbeing, though have yet to do acupuncture for my SMA IV. But I have started to converse with my acupuncturist about it.

The only dietary things I do are no alcohol or gluten — though the gluten is unrelated to my SMA.

How do you feel at this point, on a day-to-day basis?

My FA diagnosis inspired me to start my website, thegadabouttown.com. I don’t have kids and wanted to leave a legacy. Having SMA has spurred me to write more. It contributes to a sense of purpose psychologically. At worst, it’s frustrating because it takes me longer to do things than the average person. My days seem longer than I feel they ought to. I have an acquaintance with MS, and he’s one of the crankiest people I know, but he is living with a body that does not feel under his control — I recognize that in myself sometimes.

Samuel Johnson said: “Nothing concentrates the mind so well as the gallows.” It's true. I want to keep putting my story out. There are stories like mine. I still aspire to reach someone suffering; perhaps 37-year-old having symptoms like mine might see my site, which could help them understand what could be happening to their body and help them not feel so alone.

Do you see a neurologist regularly these days?

I don't see a neurologist at this point. I don't have Medicaid any longer, and that had paid for everything. I now make enough to not be able to afford insurance (sighs). After two years on disability, I was punted to Medicare, which doesn't pay for much. Medicaid even paid for transportation. Without those visits being paid for by insurance, I can’t afford to go.

How did your family handle your SMA 4 diagnosis?

It was funny; the first question my mom asked me was if this was from my drinking. I’d rather that had been the 18th question, but it was a fair one — I'd thought the same thing, that I'd drank myself into an uneven gait. In a sense, I was relieved when I got my diagnosis and found out definitely that my SMA has nothing to do with my prior drinking. I feel that sobriety has helped my life become calmer and more settled, which has brought my family some solace. It's also unearthed my empathy gene, which has helped relationships with my family and overall. We've been going through some tough times recently; my Dad died this past May of COVID-19, which has dominated our family life. 

How has SMA affected your romantic life?

I’m single now but was in a long-term relationship for most of the past decade with a woman. And yes, my SMA affected our intimate life. Doing something physical means paying attention to my body. Can I do this? I can't; my leg isn't moving.” I’d be thinking about my body and be in my headspace rather than just enjoying the moment. It was a real challenge. If I'm lucky enough to be in a relationship again in the future, it's something that I'm aware of.

What tips do you have for people newly diagnosed with SMA type 4?

Keep moving, don’t give up. Exercise to maintain your strength. Be active. More than anything, LIVE your life. Find a support community, though I’ve personally found that challenging — I would love to talk with someone who has SMA IV — perhaps someone will find me through this article.

Mark Aldrich’s website: thegadabouttown.com

Articles that Mark has written about his SMA IV:

 

Updated on: 02/26/21
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Adult Spinal Muscular Atrophy: What You Need to Know

Spinal muscular atrophy usually affects babies and small children, but SMA type 4 strikes in adulthood. Learn more about it.
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