“Here’s How I Knew I Had ALS”: A Patient’s Story, with an Expert Doctor’s Insights

Amyotrophic lateral sclerosis (ALS), often known as Lou Gehrig’s disease, is a relentless condition that gradually destroys the nerve cells in the brain and spinal cord that are essential for controlling voluntary muscles—those muscles you can move on purpose, like your arms and legs. This disease progressively weakens these muscles, stripping away the ability to speak, eat, move, and even breathe independently. Every year, about 5,000 people in the US are diagnosed with ALS, the Cleveland Clinic reports.

Lou Gehrig, a legendary baseball player whose career was cut short by ALS in 1941 at age 37, is perhaps the most famous face of this illness. His story brought attention to the disease, followed by the 1997 Mitch Albom memoir Tuesdays with Morrie, but the more recent ice bucket challenge from the summer of 2014 is what solidified the condition on the radars of millions of Americans.

According to the ALS Association, the ice bucket challenge was started by three young men with ALS—Anthony Senerchia, Pete Frates, and Pat Quinn—and saw over 17 million participants worldwide, raising $115 million. These funds boosted ALS research and patient care, helping to develop AMX0035, a new treatment that, while not a cure, helps slow the disease’s progression and extend life expectancy for those affected.

ALS has two types: Sporadic and familial. Sporadic ALS, which accounts for about 90% of cases, appears randomly without a clear reason, while familial ALS, found in 10% of cases, is inherited through gene mutations. The Cleveland Clinic notes that researchers are still trying to pinpoint the exact causes of ALS, but it likely involves a mix of genetic predispositions and environmental factors, such as exposure to toxins like lead or mercury, viruses, or even physical trauma. For those with a positive family history, genetic testing for familial ALS is available.

The first signs of ALS often include muscle weakness and stiffness. It’s important to note, if you experience pain or numbness along with weakness, it’s likely not ALS. Amir H. Sabouri, MD, PhD, a neurologist and neuromuscular subspecialist at The Permanente Medical Group Multidisciplinary ALS Clinic in Martinez, CA, clarifies in a piece with the American Medical Association that ALS typically starts with weakness in certain skeletal muscles—maybe in a hand, a leg, the tongue, or even impacting breathing. He categorizes these symptoms into limb-onset, affecting the arms and legs, and bulbar-onset, which begins with the tongue or impacts speech, swallowing, and breathing.

Diagnosing ALS is a process of elimination, as there’s no definitive test for it yet. Dr. Sabouri notes, “The concept of time is the best diagnostic tool for ALS.” It’s about ruling out other conditions and observing the disease’s progression over time.

“There’s no cure for ALS, but several treatments can control symptoms, prevent complications, and ease living with the disease,” Dr. Sabouri adds, emphasizing the need for a multidisciplinary approach to tailor interventions as the disease progresses.

Ahead, we share the courageous story of Keith L., a 57-year-old man from south Florida, who was diagnosed with ALS in 2023. Keith shares his journey of navigating life with this challenging disease, and how he keeps an uplifted spirit with the support of those around him.

Here’s How I Knew I Had ALS

By Keith L., as told to Dr. Patricia Varacallo, DO

What were your first symptoms of ALS?

For years, being active was a part of who I was—whether it was fixing things around the house, playing tennis, or just playing catch with the grandkids in the yard.

So when my right hand first started giving me trouble, it was really frustrating. Initially, it was just a persistent cramp and a stiffness in my fingers that made simple tasks difficult. I remember struggling to turn the keys in my truck, and thought I was developing a bit of arthritis.

There was one specific evening that really drove it home. I was trying to screw in a lightbulb, and my hand just wouldn’t grip. I dropped that bulb three times. My wife watched silently the first two times, but on the third, she gently took the bulb from me. That night, we discussed it was time to see a doctor.

I started with my primary care physician, explaining the trouble I’d been having. After listening carefully, he suggested it was best to consult a neurologist for more specialized testing. That conversation marked the beginning of understanding the changes that were happening in my body.

How long can you have ALS without knowing it?

During the many months I spent visiting the neurologist, my symptoms gradually intensified, moving from my hand up to my shoulder and I was running out of breath more easily. It took nearly a year—11 long months—before I received my diagnosis in March 2023. This lengthy diagnostic process is common because the symptoms of ALS often mirror those of other neurological conditions, making them difficult to identify quickly.

My doctor explained that ruling out other causes is essential, leading to numerous tests: Blood tests, nerve conduction studies, MRIs, EMGs (to assess the electrical activity in muscles and nerves), and nerve biopsies. I braced for the possibility of ALS, while still holding onto hope for a different outcome. But the inevitable came, which was the most emotional time of my life.

Living with ALS

Living with ALS is made possible by an incredible team of healthcare providers at my clinic. It really does take a village, and I’m fortunate to have a village that’s top-notch. From my doctors to my speech therapists, and from my physical to my occupational therapists, each person has been instrumental in providing the support I need to manage this diagnosis.

The disease has progressed to my legs, confining me to a wheelchair, but I’m thankful that I can still swallow and that my mind remains sharp. I also use a BiPAP machine at night to ensure my breathing is adequate, which helps prevent any oxygen problems. I know a feeding tube might be in my future, but for now, I’m focusing on enjoying each day and counting my blessings.

My medical team is currently working to get me enrolled in a clinical trial. I’m hopeful that if I receive the treatment, it might help slow the progression of my disease. Even if it doesn’t work for me, I do take comfort in knowing that my participation could contribute to finding a cure for ALS someday.

Appreciating each day as it comes

I wouldn’t be where I am today without my family. When I was first diagnosed, it pained me deeply to think I couldn’t support them the way I once did. But I soon realized they were more than ready to support me in return. My wife, the incredible woman she is, handles everything for me—getting me ready in the morning, accompanying me to every appointment, and just being the best wife I could have ever asked for. I truly adore her.

My children have been just as supportive, frequently visiting and helping around the house, while my grandchildren bring a relentless stream of joy and laughter to our lives. Although there’s no cure for my disease, the love and support of my family are what I hold onto. They’re what it’s all about, and they give me countless reasons to appreciate each day on this earth.

Here’s a final nugget of wisdom: Whether you’re dealing with a diagnosis or not, don’t put off living your dreams. Before the official diagnosis, I made it my mission to stay active, even though I had to adapt my activities. My wife and I didn’t hesitate—we took that trip to Europe to celebrate our 30th wedding anniversary. The memories we made are something I hold onto tightly.

About the expert:

Amir H. Sabouri, MD, PhD, is a board-certified neurologist and neuromuscular subspecialist and medical director at The Permanente Medical Group Multidisciplinary ALS Clinic in Martinez, California.

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