Looking back, melanoma and thyroid cancer survivor Kristin Anthony can spot the symptoms of Cowden disease she had as a child. They included growths in several places on her body, a larger than average head size, and frequent respiratory infections.
Cowden disease is a type of PTEN hamartoma tumor syndrome (PHTS) caused by a mutation in the PTEN gene. PHTS raises the risk of developing certain types of cancer, including skin, thyroid, breast, endometrial, colorectal, and kidney. The gene mutation is inherited. People who know they have the syndrome, which can be detected through a blood test, may choose to get extra screenings that can find cancer earlier, when it’s less likely to have spread and more likely easier to treat.
Over the years, Anthony had many health problems that seemed to be unrelated. It wasn’t until she began searching online for a connection that she began to suspect she may have PHTS.
As a child, she had a fatty tissue lump removed from her chest. At age 18, she went to the emergency room for a severely swollen throat, and tests showed many nodules on her thyroid. She began to have regular thyroid testing after that. At age 28 she had trouble getting pregnant and had fertility testing to find out why – including an MRI. The MRI showed she had a brain lesion. She was successfully treated for the lesion and the infertility. She eventually had twins – a girl and a boy, who are now 15 years old.
As she entered her 30s, Anthony began to find lumps in her breasts, which led to many mammograms, call-backs, and biopsies. She began to worry she was following in the footsteps of her mother, who had twice survived breast cancer, first in one breast, then the other. Then, in 2010 at age 36, Anthony was diagnosed with thyroid cancer and was successfully treated with surgery. “I had a heart tug and thought, ‘This is not the end of this,’” she said. “I started asking questions.” Anthony began searching on the internet for a connection among her health problems and found out about PHTS.
Anthony had trouble getting a doctor to agree with her self-diagnosis and order the genetic tests needed to confirm it. She suspects that’s because PHTS is thought to be rare, and many primary care doctors are not familiar with it. Through her local cancer center in Huntsville, Alabama, Anthony found a genetic counselor to take up her cause and contact doctors on her behalf. In 2011, Anthony was tested, and diagnosed with a PTEN gene mutation and Cowden syndrome. When she received the results, she thought, “Ha! I was right! But also – what do I do now?”
Anthony’s mother was eventually found to have the same mutation, but not until shortly before she died from a type of kidney cancer. “Had she known earlier in life that she had the mutation, I think she would still be with us. It would have changed her treatment and her outlook on health,” said Anthony.
Despite her diagnosis, “we thrive and live every day with joy,” says Anthony. She gets regular colorectal screenings and kidney testing, and in 2013 had both breasts removed to minimize the chances she’d get breast cancer. A year later she had a hysterectomy to prevent additional cancers.
“I think I’m very fortunate. I needed to be an advocate for myself,” she said.
Just before her 40th birthday, Anthony was diagnosed with melanoma and had surgery to remove it. Now she goes to a dermatologist every 6 months for skin checks. “You learn how to tackle the challenges in life,” she says. “Life is good and life goes on.”
The challenges Anthony faced in learning about PHTS motivated her to start a nonprofit organization to educate doctors and patients, support people with the syndrome, and promote research. The PTEN Hamartoma Tumor Syndrome Foundation was born in December 2013, and Anthony calls it a “labor of love.” “While there is currently no cure, our patients can screen and take preventative measures if they choose to do so,” she says.
She is also passionate about empowering patients to be engaged in every aspect of data sharing and the research process. “It is their data and they should be involved,” she says.
Anthony says she hopes her story will inspire others. “It’s all about being open to what doors you should walk through and understanding there is a greater reason for what you might be going through,” she says. “I can profoundly see that. I want to give back hope and positivity to people in the community.”
She says she also wants to inspire people who have any cause they care about to take action and make a difference for other people.
Our team is made up of doctors and oncology certified nurses with deep knowledge of cancer care as well as journalists, editors, and translators with extensive experience in medical writing.
Due to the impact of COVID-19 on American Cancer Society resources, we are no longer able to review new submissions for Stories of Hope.