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Family sharing a risky mutation now shares newfound hope

Medicine@Yale, 2008 - Mar Apr


To head off thyroid cancer, a Yale surgeon operates on six family members

Last June, Beverly Block Lewis, part of a family of cattle farmers from Monroe, Conn., learned that she had medullary thyroid cancer. Her Yale surgeon, Julie Ann Sosa, M.D., who specializes in treating the disease, decided to do genetic tests to determine whether Lewis was carrying genetic mutations that contributed to her illness.

Sosa found that Lewis’ 10th chromosome harbored a mutation in a gene known as MEN2A that causes a rare and severe form of thyroid cancer. Since this discovery, 13 members of Lewis’ extended family were found to carry the mutation and 10 have had their thyroids removed. Six surgeries took place at Yale-New Haven Hospital (YNHH) under the supervision of Sosa, assistant professor of surgery.

Sosa says that the MEN2A mutation that the Block family carries is extremely rare and that most families in this country with the condition have been known to researchers for years. Sosa herself follows five such families. “Many endocrinologists go their whole lives without seeing any cases of this mutation,” she says.

Lewis already had hypothyroidism, a deficiency of thyroid hormone, which she inherited from her mother’s side of the family and was the reason for the routine endocrinology appointments that revealed her cancer. The family assumed Lewis’ thyroid cancer must also have been inherited from the maternal side.

But further testing showed that Lewis inherited the MEN2A mutation from her father, Burton Block, who was also found to have asymptomatic thyroid cancer. Two of Beverly’s siblings, her son and two nephews were also diagnosed with the mutation. All but her 4-year-old nephew Jake were found to have developed cancer.

“Every diagnosis was a new blow,” says Alyce Block, Beverly’s mother. “Every time was as hard as the first.” Beverly’s recently married son Aaron Lewis, 28, says that one of the biggest challenges was thinking about future generations: “Kids that aren’t even born yet are going to be affected.”

Over the next several months, YNHH became like a second home for family members, who were constantly in and out of the hospital with each successive surgery.

But every operation went well and the family pulled through. After his surgery, 83-year-old Burton also survived a near-fatal car accident that landed him back at YNHH, just doors away from where his son Dan was recovering from his own thyroid surgery.

Though the horizontal scars across their throats are now fading, they serve as reminders to members of the Block family that genetic testing may have helped many of them to avoid a deadly disease.

Last August, more than a year after the family’s medical saga began, Burton Block died from pancreatic cancer, which was unrelated to the thyroid cancer.

But his strength, Beverly and Alyce Block say, was what helped the family through the year. Standing at Burton’s bedside a month before his death, Beverly told family members, “He’s really taught us a tremendous amount about strength and patience.”

“And the importance of a close-knit family,” added Alyce.

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