After reaching out to a top scientist to discuss her tiredness concerns, a breast cancer survivor may have unintentionally advanced long Covid research.
Amanda Twinam spent years looking for answers as to why she had low energy levels, following suspected mononucleosis in high school and two separate breast cancer diagnoses as an adult, but she now feels she is closer to a resolution after corresponding with a researcher at the National Institutes of Health (NIH) who subsequently studied her and her family.
Twinam, a lawyer in Albany, New York, realized something was wrong following a case of mono, she told The Washington Post. She never thought that exercising gave her the same lift as it did for others when she was in college. Instead, she stated that she “felt like garbage” after working out.
When she was 28, she was diagnosed with breast cancer, and her treatment plan included chemotherapy and a mastectomy. Her prescription caused seizures and made her sick; as a result, she sought out a rheumatologist, who finally detected an autoimmune disease marker in her blood.
Twinam, 44, was diagnosed with Li-Fraumeni syndrome, a hereditary cancer condition, in 2015. Soon later, she was diagnosed with breast cancer for the second time, and she underwent another mastectomy.
Twinam never thought she had a good reason for why she felt the way she did after decades of terrible symptoms, doctor appointments, and diagnoses. “Fatigue was my primary complaint, and sometimes my only complaint,” she explained. “But there was no one who knew what to do.”
The Difficult Decision to Step Back from Full-Time Work
She finally had to stop working full-time since her symptoms made it impossible for her to keep up with her legal cases while also raising her daughter, Paige.
“I was a decreasingly functional human and had no great explanation for it, which made me feel crazy,” Twinam explained. “Doctors didn’t know what to do with me.”
Twinam even pursued another degree in the hopes of better understanding what was happening with her body; she earned a master’s degree in public health between her two breast cancer diagnosis. “I was genuinely more excited when I got a 100 on a biology midterm than when I passed the bar,” Twinam said.
Twinam noticed something fascinating when reading new medical studies on Li-Fraumeni syndrome released by NIH researcher Dr Paul Hwang years after she initially began suffering symptoms. She hypothesized that her Li-Fraumeni syndrome was caused by mitochondrial dysfunction in her cells. She was particularly concerned that they could be depriving her of proper energy levels.
She emailed Dr. Hwang, saying, “I read with interest your recent article on inhibiting mitochondrial respiration in a mouse model of Li-Fraumeni Syndrome,” but Twinam said she didn’t know if he’d answer. “I had zero expectations,” she said. “Here’s me sending an email to this fancy science researcher who isn’t going to give me the time of day.”
But he did answer, implying that she could be correct. “Yes, I agree with you, and it is possible that” you’re accurate, Dr Hwang responded.
“Amanda showed up, and she challenged us,” Dr. Hwang explained to The Washington Post. “So, we dug.” Their first notion was incorrect, as it turned out. Dr. Hwang and his colleagues, however, continued to research Amanda, as well as her brother and father, who had the same gene for Li-Fraumeni syndrome. Dr. Hwang employed genetically modified mice known as “Amanda mice” to further his study.
They discovered that Twinam’s body appeared to be creating more than the typical quantity of a protein called WASF3. They determined that this protein was interfering with her body’s attempt to manufacture energy.
“It’s really striking,” said Dr. Hwang. Mice designed to mimic Twinam’s condition and produce an excess of the same protein were found to walk on a treadmill considerably less than healthy mice.
Dr. Hwang’s Research Reveals ME/CFS as the Culprit Behind Twinam’s Exhaustion
When Dr. Hwang expanded the number of persons he studied, he discovered that many of those suffering from this illness had myalgic encephalomyelitis, also known as ME/CFS. Twinam was eventually diagnosed with the disease, and she now had a term for what was causing her exhaustion.
“There’s this difference between cancer and chronic fatigue syndrome,” she explained. “When you have cancer, everyone believes you. You make a joke about having a ‘disease card’ to excuse yourself from doing things.” Twinam said that while she was suffering from ME/CFS symptoms, she did not receive the same level of sympathy and care. “There are no CFS cards being distributed. ‘It’s not psychological,’ I can now declare. I’m not a slacker.’ There is now a scientific explanation.”
Dr. Hwang’s study on Twinam’s illness was published in the journal PNAS in August, and experts think his findings are significant considering the paucity of ME/CFS research. They’re also particularly pertinent given the association between ME/CFS and extended Covid.
According to a paper published in Frontiers in Medicine in June, research on one may be useful to the other. “The often-similar findings suggest that insights into each disorder will have implications for the other,” stated the study’s authors. “We urge investigators studying the underlying biology of [long Covid] to take note of the robust findings in ME/CFS that have not yet been investigated in [long Covid]…it is likely that pursuing such abnormalities in long Covid will prove instructive.”
Long COVID is a frequent consequence of SARS-CoV-2 infection: According to a 2022 study from the Centers for Disease Control and Prevention (CDC), one-fifth of those infected with the virus aged 18 to 64 subsequently exhibited symptoms. According to the research, one in every four adults aged 65 and up had symptoms.
Dr. Hwang is now focused on healing ME/CFS, which he claims keeps him going. His four-person research team is organizing a clinical trial to see if a new medicine on the market will benefit people with the illness.
Dr. Hwang and Twinam both express gratitude for the events that led to Twinam’s diagnosis. “Amazing findings in medicine,” Dr. Hwang remarked, “are sometimes based on one patient.”