Dismissed By Doctors, Distance Runner Mom, 43, Diagnosed With Lung Cancer– She Never Smoked

A 43-year-old mom of three young kids was proud of her physical fitness as a distance runner. However, a sudden change in her physical abilities, followed by misdiagnoses, led to the discovery of stage 4 cancer lung cancer. More stunningly, she says she never smoked, which made grappling with her cancer diagnosis more difficult to comprehend. “I remember sitting there, bursting into tears,” Leah Phillips told The Patient Story during an interview. Phillips's cancer journey began after she developed a dry cough that she just couldn’t shake. It lingered for weeks on end. Then, she started experiencing shortness of breath. As a distance runner, fatigue didn’t come easily, yet she struggled to complete runs she once did with ease. “I was standing in the doctor’s office crying…saying, ‘There’s something seriously wrong with me. I need someone to see me. I need someone to listen to me,” Phillips recalled. Phillips first run-ins with the doctor didn’t go as planned as she was told her nagging symptoms were from a virus, then she was told it was pneumonia. However, the attentive mom of three knew those diagnoses were dismissive, and something more was happening inside her. “I said, ‘I’m not leaving here until someone sees me,” Phillips recalled saying as she staunchly sought a serious examination. Advocating for yourself includes remaining steadfast in getting a solid diagnosis, even if doctors appear dismissive. If this happens to you, consider going to a different doctor for a second opinion. WATCH: The value of second opinions. She underwent CT scans, which found something concerning in her lungs. Additional testing helped discover she had stage 4 non-small cell lung cancer. By the time she was diagnosed, the cancer had already spread to her spine and pelvis. “I was like, ‘This can’t be happening,” Phillips said. Phillips was alongside her family when she was diagnosed with cancer. She explained that none of them, including herself, knew lung cancer was possible if you were a non-smoker. While rare, non-smokers can still get lung cancer. “That oncologist told me I had six to 12 months to live and that I need to get my affairs in order,” which really spooked the mom of three. Phillips began multiple rounds of radiation, which helped shrink her tumor. She’s been taking a chemotherapy drug for the last two to three years, which slows the cancer’s progression. Despite the silver lining, Phillips says she knows she’s likely never to reach remission. During Phillip’s cancer journey, she underwent genetic testing to learn more about her cancer and discover possible treatment options. She is a carrier of the EGFR gene mutation. The epidermal growth factor receptor (EGFR) gene produces the EGFR protein, which plays a role in the growth and division of normal cells. Mutant EGFR genes can produce unchecked cell growth and lead to the formation of several types of cancers, including lung cancers, especially non-small cell lung cancers (NSCLC). EGFR testing is now done as a routine part of lung cancer workups. Fortunately, in recent years, newer treatment options have come online to offer hope for patients with this type of lung cancer.

An Effective Treatment Option for Lung Cancer Patients With the EGFR Gene

“In general, lung cancers are driven by certain genetic mutations, and if we discover that gene, we may be able to treat the cancer with some targeted therapy that attacks that gene without affecting the rest of the body cells,” Dr. Mohamed Mohamed , a thoracic medical oncologist at Cone Health Cancer Center in Greensboro, told SurvivorNet. WATCH: Tagrisso Treatment Explained. “If a lung tumor harbors an alteration of the EGFR gene, patients can respond to certain medications that block the function of the EGFR gene,” Dr. Balazs Halmos , director of the Multidisciplinary Thoracic Oncology Program at Montefiore Health Systems, explained to SurvivorNet. “Tagrisso is one of the very effective EGFR targeting agents used widely in cases of advanced/stage 4 EGFR-positive lung cancer.” Tagrisso belongs to a class of drugs called tyrosine kinase inhibitors (TKIs). It binds to the mutated EGFR protein on the surface of cancer cells, preventing its activation. The molecular signals leading to uncontrolled proliferation are blocked, ultimately inhibiting cancer growth and survival.

How Molecular Testing Helps Lung Cancer Patients

Lung cancer treatment has notably progressed partly because of molecular testing and profiling. This type of testing helps better understand specific genetic alterations and mutations that drive the growth, development, and progression of cancer cells. Some of these molecular characteristics can be targeted using precise and effective new therapies to improve patient outcomes. Ultimately, understanding the molecular profile of each person’s cancer allows oncologists to use customized and personalized treatments. RELATED: Next-Generation Sequencing in Lung Cancer There are several next-generation sequencing (NGS) tests you may encounter, depending on where you are getting treatment and what you are getting treatment for. Here are some of the common ones currently on the market:

• FoundationOne®CDx looks at 324 genes in solid tumors and says results can take up to 12 days. Test results include microsatellite instability (MSI) and tumor mutational burden (TMB) to help inform immunotherapy decisions.
• OmniSeq Insight provides comprehensive genomic and immune profiling for all solid tumors. It looks for 523 different genes. Test results include microsatellite instability (MSI), tumor mutational burden (TMB), and PD-L1 by immunohistochemistry (IHC).
• Cobas EGFR Mutation Test v2 identifies 42 mutations in exons 18, 19, 20, and 21 of the epidermal growth factor receptor (EGFR) gene. It is designed to test tissue and plasma specimens with a single kit, allowing labs to run tissue and plasma simultaneously on the same plate.

Smoking and Lung Cancer Risk

Lung cancer is the leading cause of cancer deaths for men and women in the United States. Nonsmokers still get lung cancer, but cigarette smoking is the number one risk factor for the disease. Tobacco smoke contains a mixture of more than 7,000 different chemicals, at least 70 of which are known to cause cancer, the Centers for Disease Control and Prevention (CDC) says . The CDC says cigarette smoking is linked to about 80 to 90 percent of lung cancer deaths, and people who smoke cigarettes are 15 to 30 times more likely to get lung cancer or die from lung cancer than people who don’t smoke. Additionally, second-hand smoke can cause lung cancer. WATCH: Smoking and Cancer Risk Smoking is, of course, the primary cause of lung cancer, but nonsmokers can and do develop this disease. Researchers have made progress in understanding the differences between lung cancer in smokers versus nonsmokers, says Dr. Ronald Natale, a medical oncologist at Cedars-Sinai Medical Center, and they’re developing targeted treatments that will be able to address the genetic drivers of lung cancer in nonsmokers. “Among patients who are nonsmokers, or former very light smokers, we identify a mutation that we can target with pills in about 60% to 70% of them. That leaves 30% or so, 40%, in whom we either have a target for which we do not have successful treatment,” Dr. Ronald Natale , a medical oncologist at Cedars-Sinai Medical Center, tells SurvivorNet. “Among patients who are smokers, who have more complex cancers that have hundreds, sometimes thousands of mutations, don’t have a driver mutation that we can give a pill for, which is only a tiny percentage of lifelong smokers. Chemotherapy is the primary treatment in most patients,” Dr. Natale explains further.

Understanding Lung Cancer

Lung cancer forms when cancer cells develop in the tissues of the lung. It is the second most common form of cancer and the leading cause of cancer deaths in both men and women in the U.S., SurvivorNet experts say. It’s “completely asymptomatic,” says thoracic surgeon-in-chief at Temple University Health System Dr. Joseph Friedberg . “It causes no issues until it has spread somewhere. So, if it spreads to the bones, it may cause pain. If it spreads to the brain, it may cause something not subtle, like a seizure,” Dr. Friedberg adds. WATCH: Detecting lung cancer in the absence of symptoms. Scans such as X-rays can help doctors determine if a shadow appears, which can prompt further testing for lung cancer. Lung cancer often doesn’t cause symptoms until it has already spread outside the lungs, according to SurvivorNet’s experts. There are two main types of lung cancer, which doctors group together based on how they act and how they’re treated: Non-small cell lung cancer (NSCLC) is the most common type and makes up about 85% of cases. Small cell lung cancer (SCLC) is less common, but it tends to grow faster than NSCLC and is treated very differently. Some people with lung cancer may experience symptoms such as:

• A cough that doesn’t go away, that gets worse, or that brings up bloody phlegm
• Shortness of breath
• Fatigue
• Chest pain
• Hoarse voice
• Appetite loss
• Weight loss

If you are experiencing these kinds of symptoms consistently, contact your doctor for further tests.