For ALS Awareness Month, we asked members of the Les Turner ALS Foundation’s Support Services Committee to help us explore topics in ALS that people should know more about.
For the second week of May, we’re looking at diagnostic delays, which are all too common with ALS. The following are stories from Janie Gobeli and Barbara Kinsey, both of whom serve on the committee and are living with ALS.
Janie: My symptoms started in January 2020. I kept going back to my primary doctor complaining of pain when I walked, restless leg syndrome (which was actually fasciculations), swollen feet, and lack of energy. He referred me to my gastrologist, who took me seriously and ordered specific blood tests. I went back to my primary doctor, who saw how terrible my gait had become and finally referred me to a neurologist. It took several months to get an appointment with the neurologist. He ordered an EMG and MRI.
Now it’s October 2021 and I’m sitting in the neurologist office going over my results. He refers me to Dr. Driss at Northwestern and another doctor at Rush Hospital. The earliest I could get an appointment at Northwestern was February 2023 and at Rush in April 2023. Northwestern put me on an waitlist. They said I was a high priority. I got a call back for an appointment with Dr. Pioro on December 22, 2021. At that appointment I was given the diagnosis of ALS.
It took two years to get a diagnosis. Several visits to my primary doctor. I saw four doctors.
It was frustrating because I knew something was definitely wrong. And I remember my primary doctor said, well, maybe you’re just dehydrated. The exhaustion was debilitating. To walk was painful. I had broken my kneecap November 2021. I was seeing an orthopedic doctor at the same time because of my broken kneecap. The orthopedic doctor, physical therapist and occupational therapist had suspicion something else was wrong, because the things that weren’t broken were weaker than my other wrist and other leg.
Barbara: I was diagnosed with ALS two years ago. My diagnosis came about in an interesting way. Three years ago, I experienced shortness of breath and weakness with daily tasks. My GP, rheumatologist, and neurologist worked me up for many muscle diseases. All the tests were negative, including an EMG and muscle biopsy.
Two months later I had a heart attack, so all symptoms were attributed to that. Some nine months later, I began having difficulty using my right hand. As a nurse practitioner in neurology, I knew that this was something serious, looking back at all the other tests that were negative. So, of course, I googled “sudden onset right hand weakness,” which led me down the path to ALS as a probable diagnosis.
Since I couldn’t find a neurologist to see me for two months, I made an appointment with my hand doctor. I knew he would recognize the hand weakness and refer me to another neurologist, and that he did. I got an appointment right away, and the doctor did an EMG and NCV on my arms only. While awaiting results I fell in the house and my arms never went out in front of me to protect myself. Another red flag! This all took place over the Christmas holidays, so it was a while before I found out the results of the testing. The doctor told me I had neuropathy and wouldn’t discuss it any further with me. She would only speak with my doctor. After a few unanswered phone calls, I knew I had to go to the ALS clinic downtown.
I patiently waited a month for that appointment and what a blessing. Dr. Pioro, at Northwestern in Chicago, spent two hours doing an EMG and NCV. He told me in his kind and gentle manner that I had ALS. I wasn’t surprised as I had suspected it all along. I saw the team at the clinic that same day and was greatly relieved to know that I was going to get all the help I would need. I was so fortunate to be able to advocate for myself.
I hear so many stories from other ALS patients, both in my support groups and YouTube videos, about their delays in diagnosis. Doctors who suspect a diagnosis of ALS should do all they can to help their patients get the necessary work-up and referrals, and once that diagnosis is made, they need a support system in place.
