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Stephanie Sugars has been moderating an online discussion group for families deaing with Peutz-Jeghers Syndrome since 2000. Over the years she has seen lots of changes.
Peutz-Jeghers Syndrome is a genetic disease. One tiny change in the STK11 gene, a tumor suppressor gene, removes one level of protection against tumor growth. With this alteration, a person is at increased risk of benign polyps and cancerous tumors of the digestive tract which may cause blockages. It may also lead to tumors of the pancreas, breast, and reproductive tract.
An early sign of the disease can be discolored spots on the iips and mucous membranes.
Its gastric symptoms look a great deal like those of Familial Adenomatous Polyposis (FAP), which is caused by alterations in different genes. The rate of diagnosis varies widely, and depends on the doctor remembering to think about this rare condition. However a careful diagnosis is very important, as it helps the family and the medical team know what to watch out for.
Joyce and Mike speak with Stephanie about her history with Peutz-Jeghers Syndrome.
For more information on Peutz-Jeghers Syndrome, see http://peutz-jeghersnews.blogspot.com/
Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group:
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It's good to talk.