Madison, Wisconsin - A blood test given to the children of parents who have a genetic disorder that causes thyroid cancer may have prevented further tragedy for a family already ravaged by the disease.
Joyce Walmer's father had thyroid cancer. So did her uncle. Her sister has endured three surgeries to remove tumors from her thyroid and adrenal glands. Joyce herself had surgery twice for the same reason, performed by UW Hospital and Clinics surgeon Herbert Chen, MD, who was now telling her that her children ? 8-year-old Kiara, 4-year-old Robert and 2-year-old Lilianna - would be in for the same, if no action were taken.
"Joyce's children have multiple endocrine neoplasia (MEN) 2A, which is an inherited syndrome," says Dr. Chen. "If the parent has the gene" - which Joyce did ? "there is a 50 percent chance the children will get it."
MEN2 is a rare hereditary condition, occurring in roughly one in 35,000 people in the United States. It is caused by a mutation in the RET gene, which provides instruction for producing a protein that is involved in cell signaling and is needed for the normal development of several kinds of nerve cells.
People with MEN2 have one functioning RET gene and one that triggers cells to divide abnormally, causing tumors in the endocrine system and other tissues. MEN2A, identified in Joyce and her children by the aforementioned blood test, leads to medullary cancer of the thyroid, pheochromocytoma (tumors in the adrenal gland) and hyperparathyroidism, which causes excessive calcium in the blood and can lead to kidney damage.
According to Dr. Chen, adrenal gland tumors and hyperparathyroidism were eventual possibilities for Robert, Kiara and Lilianna. Medullary thyroid cancer was a short-term inevitability.
"If they have the MEN2A mutation," Dr. Chen says, "they're going to get medullary thyroid cancer."
"I was kind of in shock," Joyce says. "(Given the family history) I maybe expected one of them to have it. But I didn't expect all three."
Shock soon relented to a peculiar kind of relief for Joyce. With MEN2A confirmed, the course of treatment was obvious. Her children would have surgery to remove their thyroid glands.
"The hope is to remove the thyroid prior to the development of cancer," says Dr. Chen.
Three young children. Two months ? October and November. Three surgeries. It was a lot to take in, but a familiar scene for Joyce.
"I've been there. I knew what to expect. Had I not known, it would have been scarier," Joyce says. "I felt safe with Dr. Chen because he knew what he was doing, and we were on top of it."
Any apprehensions evinced by Joyce's children were eased by a hospital staff that took the time to answer any and all questions about the surgical process.
"The staff was so good with the kids," Joyce says. "They would get right down to their level and explain everything, especially before surgery. They let the kids play with their instruments, so they were more comfortable."
Kiara's surgery came first, on October 31, followed two weeks later by Robert and then Lilianna, two weeks after that. Tests revealed surgery to be a judicious choice. Both Robert's and Kiara's thyroid glands were cancerous. Lilianna is still awaiting her test results.
"We didn't even think Robert had cancer," Joyce says. "It can happen so quickly."
All three children will be monitored closely in the coming years to make sure any trace of cancer in the thyroid doesn't spread to the adrenal and parathyroid glands. But Dr. Chen says by removing the thyroid glands, the children have avoided the most immediate and dangerous problem.
"The tumors that can develop in the adrenal and the parathyroid are benign tumors that present symptoms but are very treatable with surgery," he says. By removing the thyroid, the children should "be able to live normal lives."
That news comforts Joyce, who, despite the encouraging prognosis, nonetheless pledges to stress to her children the importance of being active participants in their health care as they grow.
"You can't let it go. If you let it go, it will turn into something worse," she says with understandable wariness. "When they get older, I have to make sure they keep up."
University of Wisconsin Hospitals and Clinics Authority
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