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medical condition
CDH1 Gene

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ABC.com


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In episode 517, "I Will Follow You Into the Dark," Meredith and Cristina work with Dr. Bailey. The Shelly family has come to Seattle Grace to have their stomachs removed. Everyone on their mother's side of the family has died from a hereditary aggressive stomach cancer and they are taking drastic measures to outwit this fast and fatal cancer.

Tricia, Megan and Michael have not yet been diagnosed with cancer. So, why are they even thinking about having their stomachs removed?

Some types of cancer have a genetic component and therefore, run in families. The Shelly family is plagued by hereditary diffuse gastric cancer. There is actually a specific gene that determines a patient's predisposition to getting this kind of cancer, CDH1. Tricia, Megan and Michael have all seen a genetic counselor and tested positive for this marker. That, combined with the family history, means that they have a 3 in 4 chance of getting this cancer. To prevent that, they can undergo vigilant testing (endoscopes every few months) or can undergo prophylactic surgery.

If one parent has CDH1 what are the chances that their child will have it?

If one parent has CDH1 there is a 50% chance that the child will have it.

What happens during the surgery?

The surgeon removes the stomach and attaches the esophagus to the intestines.

What is life like after surgery?

It's hard. Only the stomach can do the job of a stomach. Without it, the burden of digestion is placed on the ill-equipped intestines. They do the best they can, but need help. Very small, frequent meals can help patients get the nutrition they need. Significant dietary restrictions are necessary and it takes months for the body to relearn digestion. Weight loss and malnutrition are common side effects in the first months after the surgery, as are nausea and vomiting and severe, uncontrollable diarrhea and anal leakage.

Seriously, why would anyone have this surgery?

They undergo this radical surgery to prevent stomach cancer. By the time stomach cancer is diagnosed, it's often advanced. The treatment for stomach cancer is unpleasant. Complete or partial removal of the stomach, chemotherapy and if the cancer has spread, doctors will remove part of the esophagus and intestine too. The cancer is fast acting and aggressive and it causes a death which can be drawn out and particularly painful.

Who should get genetic testing done for CDH1? Genetic testing is only recommended for people who have a family history of a disease or condition that has an identified genetic marker. A genetic counselor does this testing. They are doctors who understand genetics and are trained to help you understand the results, their implications on your future health and talk you through your options.

In Tricia's case, deciding to get the surgery was a good thing. Though they screened her for cancer several months ago and the test came back negative, when they removed her stomach, they found cancer. She was lucky and her siblings have found the motivation they lacked to get the prophylactic surgery. Megan will definitely do it and Michael is still weighing his options. Let's hope they all lead full healthy lives now that they know so much more about their genetics and their options.