There were days when she didn’t think about it. But on other nights, when Joyce Walmer would go through the mental checklist of everyday worries that come with raising three children, she would wonder: Had she passed down to them a deadly gene that tore through her family tree?
It’s called MEN2A, a hereditary trait that carries with it a 100 percent chance of developing thyroid cancer. Walmer’s grandmother had the gene, and died from the disease. So did her uncle, who lost his fight with it at 28, and so did her father, whose life thyroid cancer claimed at 47.
Walmer herself was diagnosed when she was 15.
Now 30, and living in South Beloit, Ill., Walmer knew there was a 50-percent chance she had passed MEN2A down to each of her children. That’s why at night, when she said she’d worried about “everyday things,” Walmer also wondered if they would carry the gene, and “what they’re going to have to go through the rest of their life.”
Advances in genetic testing and prophylactic surgeries were about to give her an answer, however, and something she could do about it.
Walmer had bloodwork done on each child — 9-year-old Kiara, 5-year-old Robert and 2-year-old Lilliana — last August, testing that would tell her whether they carried the gene. The results confirmed what Walmer had feared: Each of her children carried MEN2A, and would eventually develop thyroid cancer.
“I expected one to carry it,” Walmer said. “But you never expect that you have three kids and all three have it.”
Soon after she found out that the children carried that gene, however, a doctor in Janesville referred them to Dr. Herbert Chen, a professor of surgery at UW-Madison and specialist in endocrine surgeries.
Chen told them about prophylactic surgery, in essence a preemptive procedure that can all but eliminate the risk of cancer by removing the organ where it would have taken hold.
With one surgery, Kiara, Robert and Lilliana could live full lives, without worrying about the disease that so devastated their family.
The procedure is called a prophylactic thyroidectomy.
If someone has a family history of thyroid cancer, or others such as breast, ovary or colon cancers that can be predicted by genes, doctors no longer have to wait for the patient to develop the disease before knowing they’ve inherited the gene and will need treatment. Instead, they can test for certain genes like MEN2A, or another called BRCA, which indicates a high risk of breast and ovarian cancer, and act before the cancer has a chance to develop.
That could mean performing a mastectomy on a woman who has a high risk of breast cancer, or a colectomy for someone at risk of colon cancer.
In the Walmer family’s case, Chen said doctors could remove each child’s thyroid, a gland whose function regulating metabolism can be replaced by a daily pill.
Beyond the immediate danger of complications during surgery, the procedure doesn’t carry long-term risks, Chen said, and can all but eliminate the risk of a cancer he described as “uniformly lethal.”
“This is probably the greatest example of how genetic testing can save someone’s life,” he said. “We can intervene and remove an organ that you don’t need ... and take that organ out before the cancer develops in it.”
According to Dr. Lee Gravatt Wilke, one of the most important things genetic testing and prophylactic surgeries do is give patients a choice.
If, for instance, a woman tested positive for BRCA1, which predicts an 80 percent risk of breast cancer and 60 percent chance of ovarian cancer, she could choose how to proceed with treatment. Through consultations with a team of genetic counselors, a medical oncologist and a nurse practitioner, Wilke said, that patient will have her treatment options laid out for her, one of which is prophylactic surgery.
“The question is: How does the patient want to live with that?” Wilke said. “We had some patients who say, ‘I can live with you finding a cancer, and I’ll deal with the cancer when it arises.’ We have others who say, ‘I never want to deal with the cancer.’”
After watching what thyroid cancer did to her family, especially to her father, Walmer knew what she would do.
“I want them to have a full life, I don’t want them to pass away at such a young age like he (did),” she said. “The last five years of his life were horrible, and I don’t ever want my kid to go through that. I’ve seen what it is.”
Walmer received her children’s test results in August and September. After talking about her options, Dr. Chen scheduled three prophylactic thyroidectomies during October and November.
The kids had a lot of questions, and Walmer would answer them whenever she could — before they went to sleep at night, when they woke up in the morning, on car rides up to Madison for doctor’s appointments at UW Hospital.
“I decided in the beginning I was going to be straightforward with them,” she said.
Kiara, the oldest, had her surgery first, Robert went two weeks later, and Lilliana took her baby doll into surgery two weeks after that. The nurses put a bandage on her doll’s neck, in the same place where Lilliana had hers.
The surgeries went well — there were some complications with Kiara’s, and she was stuck in bed for 24 hours, but Robert and Lilliana were up and running around a few hours after theirs.
They aren’t quite out of the woods yet, though. Robert and Kiara had both already developed small amounts of the cancer, which could spread to other parts of their bodies, a fact that makes Walmer nervous.
“It can still move,” she said, “that’s the only thing that scares me.”
But Chen said he did not believe the cancer had spread. Thanks to genetic testing and prophylactic surgeries, he said, patients who once would have struggled with cancer can live full lives.