Health
Biomarker test saved Kentucky mother’s life
Brittany Hawkins was diagnosed with stage IV lung cancer and given 3-6 months to live. Then her biomarker test led to targeted therapy and everything changed.
In 2021, Brittany Hawkins received a startling diagnosis that changed her life.
In April of that year, she noticed a cough that seemed to come out of nowhere, but she brushed it off at first. After all, it was in the middle of the COVID-19 pandemic, with seasonal allergies that usually resulted in a tickle in her throat, and the then-36-year-old Kentucky mom didn’t think much of it.
But the cough lasted for weeks, and there were many more symptoms, including fatigue, shortness of breath, and what she believed was an ocular migraine.
She underwent a battery of tests to determine the cause of the problem.
Her doctor did a chest x-ray in June and said she needed to see a pulmonologist after reviewing the images. The doctor ordered a chest CT scan, and after confirming that, she ordered a bronchoscopy.
Then something terrible happened.
“Since he planned to [the bronchoscopy] “I had a stroke trying to do that,” Hawkins told Healthline. is.”
Hawkins then received the most baffling news.
She was diagnosed with stage IV non-small cell lung cancer and her medical team thought she had only three months to live.
Hawkins said he was confused by his diagnosis. She had never smoked, lived a healthy lifestyle, and was not exposed to typical environmental risk factors.
Hawkins was horrified and heartbroken by the news, but determined to find out what was happening to his health and how to deal with it.
her medical team biomarker testwhich is a method of detecting biomarkers (or proteins, genes, and other substances) that provide information about a person’s specific cancer,
Hawkins was told that her cancer was caused by abnormal mutations in the RET gene, specifically the RET + KIF5B mutation. She also learned that she had two of her FDA-approved drugs for this mutation, and that she would be taking one that weekend.
“I feel like it was a mental tipping point for me,” Hawkins said. “We were able to turn something huge and scary into something we could tackle.”
Beginning in the summer of 2021, Hawkins is on a mission to raise awareness about its potentially high-risk lung cancer and life-saving biomarker testing options.
Each cancer case is different. This is a different disease and affects everyone differently. Hawkins’ medical team was able to provide her with a way forward by getting to the root of the problem cells.
After July 2021, Hawkins’ situation remains surreal.
She said she had “no hunch” that she might get lung cancer in the future. She said she grew up in Kentucky, where smoking rates are relatively high, so there is “the stigma” that her lung cancer is “something you do to yourself.”
As a result, she grew up with the feeling that lung cancer is one of the few diseases that can be “prevented” by “quitting smoking and making healthy choices.”
“So yeah, it was never on the radar,” Hawkins added. did not [it may be cancer] at all. ”
Each new piece of information that came to her in the early days of her diagnosis was a dizzying vortex.
Those “ocular migraine” episodes? Those were mini strokes. Her first cough, thought to be from allergies or coronavirus, was due to carcinoma in her lungs.
In addition to her lungs themselves, she had cancer in her bones and further lymphatic dissemination. After a course of immunotherapy and chemotherapy, she also contracted her COVID-19.
Her prognosis seemed poor.
Although she has a family history of cancer (her mother died of pancreatic cancer when Hawkins was 17), she said it was her last exposure to the disease for nearly 20 years. . It was also very different from what she experienced with her own health.
“It was a complete déjà vu for my family, but our experience with treatment was based on everything we’ve known since then,” Hawkins explained. The medical community in general and cancer care has come a long way in 20 years, and things have advanced so much that I am so grateful that I am still living with cancer now instead of 10 years ago. increase.”
“Part of that progress is biomarker testing,” she added.
Hawkins said she didn’t even know what a biomarker test was when she started her journey.
her oncologist Dr. Adam Lai A PhD from the Norton Cancer Institute is what she calls a “true researcher.” He wanted to understand why young, healthy people got lung cancer.
“He knew there was a reason and he didn’t stop digging until he found it,” she added.
Lye told her he would perform a liquid biopsy, draw blood, and send it off to be checked for certain biomarkers. They came back negative, along with a bone biopsy from her hip.
“Many oncologists told me to stop there, and if he had stopped at that point, I would have been on a regular chemotherapy regimen and palliative care. [prognosis] If he hadn’t kept digging, we wouldn’t have seen Christmas this year, as it was three to six months old at the time.”
Ultimately, her oncologist biopsied the main tumor in her lung and showed a RET gene mutation.
“There were three different tests and in the end [the cause]That’s why I’m a huge proponent of biomarker testing,” Hawkins explains. “Liquid biopsies may not tell you. Tracking tumors from spread may not tell you. there is.”
Her oncologist said Hawkins carries the specific mutation in “less than 2% of patients with non-small cell lung cancer.”
He soon prescribed her Prarcetinib, marketed under the trade name Gabretto. A biomarker test that helped her pinpoint what was wrong and what she needed to do saved her life.
“I have a seven-year-old, so I’ll tell you a true story,” Hawkins said with a laugh. spread of [my] Lymphatic system, all bone expanses, all of them dissolved. ”
Dr. Edward GallonA UCLA Health thoracic medical oncologist, he told Healthline that over the years, and especially as we learn more about lung cancer, he knows there are “fundamentally subgroups of the disease.”
In the conventional understanding of lung cancer, these subgroups consist of small cell lung cancer and non-small cell lung cancer, but in non-small cell lung cancer in particular, “there are many different mutations that cause a tumor to have the condition it has.” It’s in,’ he said.
“There are certain factors that have treatments that allow them to treat certain tumors in patients,” explained Gallon, who was not involved in Hawkins’ medical care.
He said the targeted solutions provided by biomarker tests can reach the molecular roots of specific cancer-causing mutations.
This was a game changer in this field.
“We now know that tumors have many different causes,” said Garon. “This is he one of the reasons it’s so important. [biomarker testing] Many different treatment options can be prescribed. ”
Dr. Vamsi VercetiFCCP, a professor of medicine at the NYU Grossman School of Medicine and medical director of the thoracic oncology program at Laura and Isaac Perlmutter Cancer Center, agrees that cancer treatment “has made great strides in the last decade.” .
Until that past decade, treatment for lung cancer consisted mainly of chemotherapy, and most patients with stage IV cancer did not receive long-term effective treatment, Velcheti said.
“We tend to realize that not all lung cancers are the same. Understanding a cancer’s exact DNA fingerprint allows us to actually tailor treatment to the DNA changes in a patient’s cancer.” Biomarker testing offers the opportunity to individualize treatment based on cancer-specific vulnerabilities, where we can actually combat these vulnerabilities and actually match patients to appropriate therapies. can do.”
When it comes to how this kind of targeted testing and treatment will play out in the future, “not every change in DNA results in an abnormal protein or abnormal functional change,” said Velchetti. increase.
In the future, it will be important to understand the functional elements of these mutations themselves. A better understanding of what causes these mutations and how they work will make better treatments available to people living with cancer.
“New advances in using artificial intelligence to look at proteins and RNA as well as genes are actually allowing us to more accurately predict how a given patient will respond to a drug.”
“In the next few years, we will see artificial intelligence and more sophisticated algorithms that will be able to predict better treatments for patients,” said Velchetti.
Today, Hawkins said she feels “amazing.”
She said the symptoms that led to her diagnosis and some of the cancer itself were “totally gone,” and side effects were minimal. I am grateful that I have not dealt with some of the serious side effects.
“If you have the right people, the right medical team in your corner, you can fight effectively,” she stressed.
Hawkins said he was able to tap into the power of his voice by learning to accept the love and support of those around him.
“I want people to know… there are ways to get through this,” she said.
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