‘It Was Very Dismissive’—This Woman's Delayed ALS Diagnosis Has Her Sharing the Importance of Self-Advocacy
Sara Wheeler’s life-changing medical journey began with the most random and seemingly minor observation. “I could not stand on my tippy toes,” she recalls.
Wheeler, now 37, lives in Fort Worth, Texas with her husband and three children. In early 2018, she was working as a nurse and her family had just moved to a new home. While unpacking some belongings and trying to put them away on a high shelf, she noticed a strange issue with her feet. She’d been experiencing leg cramps and foot pain sporadically over the previous few months but chalked it up to working long shifts spent with extended periods on her feet.
“But now I had to get up on my tippy toes and I couldn’t, and it all just clicked.”
Wheeler reported her concerns to her primary care provider, who said the symptoms could be caused by a range of possible conditions from Lyme disease to myasthenia gravis (an autoimmune disorder). A battery of tests including an MRI of her back and X-rays of her foot didn’t reveal anything that seemed likely to be the cause of her symptoms. Meanwhile, Wheeler began experiencing increasingly painful cramps in her legs and feet. “I’m waking up in the middle of the night screaming in pain,” she recalls. “So now we started to go the route of neurology.”
Seeking a Neurological Cause
After spending several months waiting for an appointment, Wheeler saw what would be the first of several neurologists she consulted. During this visit, Wheeler shared her fear that she might have ALS (amyotrophic lateral sclerosis, an incurable and progressive neuromuscular disorder often referred to as Lou Gehrig’s disease). Wheeler says the doctor quickly dismissed the possibility, saying she didn’t fit the profile of the typical ALS patient and her symptoms didn’t fit the standard mold.
Instead, Wheeler says, that doctor decided she likely had Charcot-Marie-Tooth, a degenerative nerve disease. That first doctor referred Wheeler to a larger hospital, where—after waiting roughly six months to be seen—she says she encountered the same reaction by yet another doctor who she says brushed off her fears of ALS and simply told Wheeler to monitor her symptoms and come back in a year if they didn't subside.
“By now I'm wearing leg braces, having more weakness and these cramps are just incredibly painful. And as I’m learning about Charcot-Marie-Tooth, I'm getting a nagging feeling in the back of my head, thinking it doesn't fit, and it doesn't feel right.”
She consulted with yet another doctor who specialized in Charcot-Marie-Tooth, who was confident Wheeler didn’t have that condition but, in a pivotal move, ordered in-depth genetic testing. “I don't know what magic that man pulled. But I remember seeing my insurance [statement], and it was a $25,000 test, and I didn't have to pay for it. So I'm very thankful.”
Wheeler provided a DNA sample, as did both of her parents. “We had genetic markers, and that’s when it was confirmed that it was genetic ALS—the SOD1,” Wheeler says.
According to the ALS Association, most cases of ALS aren’t genetic. About 90 percent of the people who have the disease are the only ones in their family who have been diagnosed with ALS. The remaining 10 percent are categorized as “familial ALS,” where there’s an inherited genetic mutation. People with this type of ALS often begin showing symptoms at a younger age than people with the disease who don’t have this inherited genetic mutation.
Wheeler’s family had been unaware this genetic mutation ran in the family until Wheeler got those results. “That's when it all just came crashing down and reality hit,” Wheeler recalls.
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Stunning News and the Beginning of Treatment
On Mother’s Day of 2021—roughly three years after her symptoms first began—Wheeler got the news confirming her longtime fears. In a state of shock, Wheeler says she likely appeared stoic and calm when the doctor delivered this diagnosis.
“But then when I got into the car, it was a breakdown.”
Thankfully, things moved quickly after Wheeler finally received the correct diagnosis. She was referred to the Austin Neuromuscular Center and now she makes the three-hour drive to Austin once a month to receive Tofersen via spinal injection and get other services at the facility’s ALS Clinic. After trying another medication that triggered significant side effects, Wheeler is grateful to be on a treatment regimen that seems to be helping with some of her symptoms and giving her precious time to enjoy with her family.
A Delayed Diagnosis Meant Precious Lost Time
Wheeler is frustrated that her initial suspicions and concerns were treated so casually by several doctors, and she suspects she wasn’t taken seriously because she was young and female. “It was very dismissive,” she says, recalling that one doctor offered to write her a prescription for Xanax.
For any patient suffering from troublesome symptoms, a delay in diagnosis and treatment is frustrating. But for someone who was unknowingly living with a degenerative, incurable disease where the average life expectancy after diagnosis is five years or less, a three-year delay in diagnosis seems particularly cruel.
“I think about that all the time. I feel like I was robbed of three years of my life, and that’s precious time I can’t afford to lose. I sometimes wonder if I’d still be able to go upstairs and tuck my kids in at night if I’d gotten treatment two years earlier. That’s a tradition I had to give up because I can’t get up the stairs anymore.”
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Finding New Purpose
In addition to relishing special moments with her family and crossing experiences off her bucket list, Wheeler enjoys playing online video games as a hobby and also values the community she has found online. “I can’t work anymore, so the streaming and support groups and social media have been good for my mental health.”
She says social media also provides her with a valuable platform via which she can spread awareness and education about ALS, which she hopes will make it easier for other people with ALS to receive an accurate diagnosis more quickly. She notes that at the start of May, which is designated as ALS Awareness Month, she shared that her first symptom was not being able to stand on her tiptoes.
“Somebody commented, “Thanks for sharing. Your post was viewed 6000 times. That's 6000 people that just tried to stand on their tiptoes. And now they know a little bit more about ALS.’ And I never really thought about that, but I think that's kind of cool.”
Still, it’s impossible for Wheeler to ignore that her disease is progressing, an inevitable process that will make her symptoms increasingly severe. “I wear beefier leg braces now,” she says. “But I can still swallow and breathe okay. They say I’m a slow progresser, which is good.”
Wheeler’s Advice for Other Patients
Wheeler has some tips for others who may be navigating a medical journey, whether it be ALS or something else.
Appreciate what’s important and don’t sweat the small stuff
“Priorities in life instantly changed after hearing those words, ‘It's not good: it's ALS.’ Suddenly little tiffs seemed silly. Spending time with family felt urgent. And I felt selfish that it took a tragedy to get that. Why didn't I call my parents more or visit more often? Why did it take this news to realize my bucket list really was important to do and not just dream about doing it? Make the call, spend time with family, take the trip, eat the ice cream.”
Trust your instincts and keep pushing for answers
“Never feel bad about a second or third or fourth opinion. You know your body and if it doesn't feel right. It's important to find a doctor that will work with you to find answers. ALS symptoms are no joke and it is a race against time. It took almost three years to get a diagnosis, and it is always in my mind if my doctors looked a little closer, I could have started trial treatments sooner.”
Lean on all the support resources available to you
“Joining the [online] support groups has been the biggest help. To go on there and vent is a great outlet.”
Understand your insurance benefits and seek out advocates who can help you sort through the resources available to you
If possible, try to maximize your insurance benefits before you need them for a major issue. “Sign up for all the bells and whistles you can on insurance! I had no idea how to navigate after getting a diagnosis. Preparing to take a financial blow, I was really glad I had benefits that helped me navigate life insurance, catastrophic insurance, and Social Security Disability.”
Next up, find out how talking to your doctor about this one thing could significantly improve brain function and lower your Alzheimer’s risk.
