She went undiagnosed until almost too late

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For weeks, Ann Malik hadn't felt like herself but couldn't pinpoint what was wrong. Other than a history of mild asthma that didn't require medication, the 39-year-old had been healthy. So when her family physician attributed her malaise and fatigue to mild anemia, Malik felt relieved by the explanation and expected to feel better.

But two months after starting iron supplements, she felt worse.

"I felt anxious and overwhelmed," recalled Malik, who lives in Barrington, R.I. At the time, she was juggling two small sports-related businesses she'd founded with her husband, Vinu, an accomplished triathlete, and raising three young children, then 3, 5 and 7. On the advice of her primary care doctor, Malik began taking an antidepressant.

That didn't help either. Malik's appetite ebbed, she lost weight, developed insomnia and generally felt like a failure. Why, she wondered, was she so fixated on her health even though doctors had found nothing serious and largely attributed her problems to stress?

Nine months after her symptoms first appeared, Malik learned how prescient she had been. By then she was in an intensive care unit, fighting for her life.

"It had never crossed my mind, not once," Malik said of her diagnosis. Doctors had not mentioned the illness nor did they appear to have considered it.

A major reason: Malik is in the vanguard of a group of patients who didn't fit the profile for their disease. Her symptoms and, she later learned, the interpretation of her imaging tests had been attributed to illnesses that are more common.

Malik is unusual in another respect: She has managed to defy the odds. At the time of her diagnosis in September 2014, doctors told her husband her disease was so advanced they didn't expect her to live more than a month.

Now 10 years later, she is looking forward to celebrating her 50th birthday

• Ill-defined unease

The initial signs were amorphous.

"I had this feeling that something was wrong with me," Malik recalls, which led to the anemia diagnosis. Medication appeared to reverse her iron deficiency, but Malik's malaise deepened. She remembers lying in bed and staring at the right side of her upper abdomen which inexplicably felt "full" but not painful.

Malik felt increasingly consumed by a mushrooming but ill-defined sense of dread and anxiety that focused on her health. "I'd never had a problem with anxiety before," she said.

Her primary care doctor administered a depression screen - a list of questions designed to unearth the problem. Malik said she "flunked."

"I thought, 'Wow, this is all in my head,'" she recalled. Around March, at her doctor's suggestion, she began taking an antidepressant. She also started walking for exercise and practicing yoga, hoping the combination of medication and physical activity would boost her mood.

It didn't. By May, Malik had lost her appetite and began losing weight. "Food didn't taste good to me," she recalled. She was also dogged by night sweats and insomnia.

Her husband talked to a physician friend, who recommended consulting an endocrinologist. It was possible a metabolic problem such as a thyroid disorder could explain her symptoms. After reviewing the results of multiple blood tests that were normal, the endocrinologist suggested Malik reduce stress.

"She told me I was a young mother, working, and that it certainly made sense that I needed a vacation," Malik remembers. "I had already bought into the fact that I was feeling bad from my overloaded life. But I knew all my peers were doing the same things as me, so I was confused."

Hoping for more actionable advice, Malik turned to an alternative medicine practitioner. She diagnosed "adrenal fatigue," which is not an accepted medical diagnosis but rather a collection of symptoms including fatigue, anxiety and insomnia.

She recommended that Malik use special serums, review her diet and reduce stress. "I felt that my symptoms were my fault," Malik said. "I just couldn't cut it."

Several weeks later, she contracted a bad cold that hung on for days.

• Battling pneumonia

In early July, Malik was at her home outside Providence trying to power through her day when she coughed up blood. Shaken, she called her family physician who sent her for a chest X-ray.

The X-ray appeared to show pneumonia, an infection caused by viruses, bacteria and fungi, in the lower lobe of her right lung. Pneumonia might explain the recent pain in her chest and back, which felt like a pulled muscle, and unintended weight loss that would total 10 pounds. Malik began taking antibiotics and said she "started to feel a bit better, but not well."

A month later, she coughed up blood again. This time she headed for a hospital emergency room. After another X-ray, Malik was diagnosed with recurrent pneumonia.

"My husband said, 'This is not normal,'" Malik recalled. The couple pushed for additional testing. The ER doctor told them that if they were concerned, Malik could consult a lung specialist.

In August, Malik saw a pulmonologist who ordered a CT scan, which revealed a potentially suspicious area on her right lung. Next came a bronchoscopy, a procedure that uses a scope that allows a doctor to inspect the airways and lungs and take biopsy samples.

The biopsy results were definitive - and devastating. Malik had non-small cell adenocarcinoma, the most common type of lung cancer.

Malik was stunned. "I was a 39-year-old who had never smoked," she said. "No one had ever mentioned the word cancer." Twenty-five years earlier, lung cancer had killed one of her grandfathers, who had been a smoker.

She remembers that the pulmonologist, who called her with the news in early September, tried to be reassuring. "I remember him saying, 'Hopefully, we caught it early.' And I remember thinking, 'Nope.' I'd been sick for a long time." She flashed back to the unexplained fullness in her abdomen. Now she knew what it was.

Although Malik was correct - her cancer had not been detected early - no one had any idea how gravely ill she would become over the next 24 hours.

• Not a panic attack

The day after the pulmonologist's call, as Malik and her husband reeled from the news and braced themselves for a meeting with her doctors, they first had to get through preschool orientation for their 3-year-old son.

After a largely sleepless night, Malik noticed she was having double vision and was unable to fasten her bra. "I thought, 'Wow, I'm so stressed out I can't even see,'" she said. Her husband was concerned that something more serious might be wrong, and paramedics were summoned.

"They thought I was having a panic attack" triggered by the newly diagnosed cancer, Malik remembered.

At the hospital, doctors determined that Malik had suffered a stroke. The Stage 4 lung cancer had spread to her left lung, liver, spine and hip bones and had invaded her brain, causing the stroke. "It was everywhere," Malik said.

Doctors told Vinu Malik they expected she had about a month to live.

• Genetic testing

Doctors decided Malik needed to begin chemotherapy right away. Because of her age and the fact that she was a nonsmoker - lung cancer patients are usually smokers or former smokers whose average age at diagnosis is 70 - they suspected Malik's cancer might carry a genetic mutation that could guide treatment.

They ordered specialized genetic tests for a variety of mutations including ROS1, which is estimated to affect about 1 to 2 percent of patients - typically younger people who were light smokers or never smoked. The mutation is not inherited.

ROS1 positive cancers are treated with targeted therapy, a type of oral medication designed to kill cells with a particular mutation while sparing normal cells, unlike standard chemotherapy.

Vinu Malik contacted doctors at Massachusetts General Hospital in Boston, which has a team of thoracic oncologists who specialize in treating lung cancer. After Malik's initial chemotherapy treatment showed positive results, the couple drove an hour north to Boston to meet with Zofia Piotrowska, who was then a fellow in thoracic oncology. A decade later, she remains Malik's doctor.

"Ann is not so uncommon," said Piotrowska, now an assistant professor at Harvard Medical School. Despite increasing awareness of lung cancer among nonsmokers, "unfortunately it's common to see [patients] at Stage 4," she noted. Lung cancer in its early stages causes few symptoms. And in female nonsmokers, particularly young women, symptoms tend to be attributed to other ailments.

The reasons for the increase in lung cancer cases among women like Malik who never smoked remains unclear.

"Certainly if she'd been an older man with a smoking history, she might have been diagnosed earlier," Piotrowska said. It's important for doctors to remember that "anyone with lungs can get lung cancer."

Six weeks after she learned she had lung cancer, Malik's genetic screen revealed the ROS1 mutation - a piece of rare good news. "It was very exciting, like winning the lottery," she recalled.

Malik began targeted therapy but was crushed to learn she would need treatment indefinitely, probably for the rest of her life, to keep her incurable cancer at bay.

"Disease control is the focus," Piotrowska said. "Acquired resistance, the ability of cancer to adapt and evade drugs to vanquish it," remains a perpetual challenge, requiring doctors to find new treatments and medications after the old ones stop working.

Many months after her diagnosis, Malik learned that the X-rays that purported to show she had pneumonia actually showed lung cancer that mimics pneumonia. Her experience has been used as a teaching case at Harvard Medical School and appears in a radiology textbook written by Mass General's chief of thoracic imaging.

In 2016, after new metastases were found in her brain, Malik underwent radiation treatments that were deemed successful. In 2020, she underwent brain surgery to remove dead tissue caused by the radiation.

"Her brain is the biggest problem, but she's doing really well," Piotrowska said recently.

The median survival for ROS1 patients is about five years, Piotrowska noted. (The five-year relative survival rate for Stage 4 non-small cell lung cancer is about 8 percent.) While some of Piotrowska's other patients have lived as long as Malik, "even among that elite group she is an outlier."

"Ann does an amazing job of balancing" living with her disease and living her life, the oncologist said. "Her story is a terrible one in some ways but also a hopeful one."

Malik agrees and hopes it will prompt others to think more broadly about patients who don't fit an established profile.

"I'm watched closely, but my lifestyle is no longer that of a cancer patient," said Malik, who credits meditation with helping her live with a daunting diagnosis. She recently talked about her illness at a live storytelling event in the Boston area and has developed a course for people with cancer as part of a meditation practice she founded.

Her husband, Malik notes, "has always been my biggest supporter," and she feels lucky she has been able to see her children become teenagers.

"I think they've learned resiliency and can handle hard things," she said. "They know how grateful I am to be around."

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