AN AMERICAN woman had her stomach removed after learning she had a gene mutation that increased her risk of developing gastric cancer.
Emily LeFrancq, 22, of Woodland, Washington, said that as her father Mick Martin battled brain cancer, he was told he had a mutation in his CDH1 gene.
This put him at 70 per cent risk of developing stomach cancer, but, because he was so ill, there was nothing to be done about it, reported KGW 8.
LeFrancq said she quickly got herself tested and learned she was carrying the same mutation.
In what she said was a “no-brainer”, she decided to undergo an hours-long surgery to remove her stomach entirely, and connect her oesophagus to her small intestine, which would act as a substitute stomach.
Now, LeFrancq has opened up about the challenges of learning to eat smaller portions and balancing her meals so she doesn't get sugar crashes.
The CDH1 gene provides instructions for making a protein that helps neighbouring cells stick together and form tissues.
But certain mutations cause a cancer disorder that runs in families, called hereditary diffuse gastric cancer (HDGC).
Those with a CDH1 gene mutation related to HDGC have a risk of between 56 and 70 per cent of developing stomach cancer in their lifetimes, according to the National Institutes of Health.
In diffuse gastric cancer, there is no tumour. Rather, cancerous cells form underneath the lining of the stomach in small clusters. This type of cancer associated with HDGC is often not visible in an upper endoscopy, making it difficult to diagnose.
Therefore, a majority of diffuse gastric cancer cases are diagnosed at late stages.
LeFrancq visited the National Institutes of Health in Bethesda, Maryland, and made an appointment with Dr Jeremy Davis after she learned the news of her gene mutation.
“Once you've developed stomach cancer, the likelihood of surviving it five years down the road is pretty low,” Dr Davis told KGW 8.
Last December, LeFrancq underwent a procedure in which her stomach was removed and her oesophagus, a tube that connects the throat to the stomach, was attached to the small intestine so that there is still a functioning digestive system.
Doctors performed testing on the removed organ and found cancerous cells in the stomach lining.
“It's such a fast-moving cancer, and mine was already growing,” LeFrancq told KGW 8.
LeFrancq can't currently eat a lot of food, but, over time, her intestines will stretch to accommodate what she eats.
She needs to eat much smaller portions because she gets fuller quicker and her sugar levels will crash if she eats a meal too high in carbs and too low in protein.
“I eat a lot of chicken and proteins and fish,” LeFrancq said. “I try to feed my body with high protein meals.”
Having a CDH1 mutation and HDGC also puts women at a 40 to 50 per cent chance of developing lobular breast cancer, so LeFrancq plans to undergo a preventative double mastectomy down the road, reported KGW 8.
But LeFrancq said she's glad she took proactive steps and hopes to inspire others.
“Realistically, I probably wouldn't have made it to my mid- to late 20s if I didn't know about this,” she said.
“I just hope that I can be... that people can look at me and say: ‘If she can do it, I can do it too.’” – Daily Mail