‘Shook us to the core’: Patient misdiagnosed twice with ALS is a cautionary tale for family doctors

A recent news story about a Manitoba man who was told by two family doctors he had amyotrophic lateral sclerosis and would not live to see this Christmas has underlined the need to have a specialist confirm an initial diagnosis of a life-threatening condition.“I’m sorry to say this: Family physicians should never be making a diagnosis of ALS because it's a diagnosis of expertise and a diagnosis of exclusion,” Dr. Lorne Zinman, a neurologist at Sunnybrook Hospital and head of Canada's largest ALS clinic, told CBC News. “It’s very hard to give that diagnosis. It’s complicated.”ALS is a rare disease affecting only two to three out of every 100,000 patients, he added, and diagnosing this condition can take months—upwards of 18 months from the onset of symptoms. Family doctors who suspect ALS should refer their patient to a specialist and an ALS clinic immediately. Yet in the case of 51-year-old Winnipeg resident Fredrik Bergstrom, that diagnosis took about 10 minutes.Bergstrom, a businessman with a wife and two teenaged daughters, said he received the diagnosis in March 2023 after his doctor did a 10-minute examination to determine the cause of a limp and numbness in one foot that had developed recently.He doctor told him he had advanced ALS and that the disease—which runs in his family and had already killed his father and younger brother—would progress quickly.“(The doctor) literally teared up and hugged me and he said, ‘Fredrik, this is ALS,’”Bergstrom recounted.Read: Drug for rare form of Lou Gehrig's disease OK'd by U.S. FDAAn appointment three days later with another doctor in the same medical building confirmed the initial diagnosis.“It was just absolutely devastating,” said Bergstrom, who recalled how he and his wife cried through the first night following diagnosis.Over the next several weeks, Bergstrom moved to put his affairs in order. He submitted claims for insurance, including disability, and shut down his business. He received a disability placard to put on his car and was offered services from a therapist to related to medically assisted death. He and his wife planned his funeral. They told their daughters, friends and family about his illness and doctors’ predictions that he might live only until October at best.“I had to tell my aging mother, who's already lost a son to this, that she was about to lose her last son and that was—that was a tough conversation,” said Bergstrom.But in July, about five months after he was first told he was dying, Bergstrom was sent to a neurologist, who put him through more tests and an exhaustive examination. That was when he got a big surprise: the neurologist said he had likely been misdiagnosed and referred him to another doctor, who also told him he did not have ALS.Read: The rise of ‘Dr. Google’: The risks of self-diagnosis and searching symptoms onlineBy the time he saw his sixth doctor and specialist, Bergstrom had more confirmation that he had been misdiagnosed. Instead the doctors believed that Bergstrom, who has diabetes, has neuropathy.“It was great joy, but it was also anger,” said Bergstrom. “This hurt me. This hurt my family, shook us to the core.” Bergstrom said he understands the doctors who misdiagnosed him made a mistake and that he doesn’t want to take any legal action. But he has a message for family physicians and general practitioners: any diagnosis of a serious or life-threatening condition should come only from a specialist.“I think that doctors really need to understand the dire consequences of such a hard and severe diagnosis,” he said. “If you have a suspicion of such a severe and difficult diagnosis, that should be elevated to an expert. The fact that, both verbally and in writing, I have an ALS diagnosis—that should not have happened.”ALS is initially misdiagnosed in 10% to 15% of cases, according to the ALS Association. Dr. Zinman said it’s rare for a neurologist or specialist to make this mistake.Read: Facing the end of life cannot be easy

‘Shook us to the core’: Patient misdiagnosed twice with ALS is a cautionary tale for family doctors

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