06 May 2013

Prophylactic thyroidectomy

After learning that all three of her children carried a gene that causes thyroid cancer, Joyce Walmer decided each child should have his or her thyroid removed...

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...

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.”..

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 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...
The rest of the story is in the Wisconsin State Journal, with details about preventive surgery for other diseases, and about postoperative management.

Photo credit M.P. King.

3 comments:

  1. Wow. I did not even know that such a gene existed. Thanks for sharing.

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    1. I knew that they could identify genes that marked a possibility for certain conditions. I did not know they had narrowed one down to "We are 100% sure that this gene will cause you to have cancer." That is amazing.

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    2. Well to be precise, it's not a "MEN2A gene" but rather a "MEN2A mutation of gene RET". Normally, cancer requires several mutations to develop, and if you happen inherit just one of them, you would be given an estimated chance of developing cancer (= acquiring the other mutations) drawn up from medical histories of others who have the same mutation. Here however, the one mutation is enough to cause cancer: if you inherit RET-MEN2A, you're essentially born with a cancer waiting to happen.

      The reason why you don't see this sort of thing more often is that having all the genetics required for cancer in place is not exactly conductive to normal development - I'd imagine that most such combinations end up in the 60% or so of fertilizations that never result in pregnancy. RET-MEN2A is more of an exception because it causes cancer only in specific tissues (endocrine glands) and therefore allows normal development even into adulthood.

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