Posted at: 08/21/2012 6:54 PM
By: Melanie Bloom
MEDICAL EDGE: Lynch Syndrome
(ABC 6 NEWS) -- One of the last things on a teenager's mind is a diagnosis of cancer. Especially if it's a type of cancer that adults usually get. But the teen you're about to meet has a gene that greatly increases her risk of colon cancer. It runs in her family and many of her relatives battled the disease. So did she.
"My mom and I are very close," said Emily Ruby.
Whenever they can, Emily and her mom Karen Sansom hit the local shops to enjoy a hobby they've shared for years. They share something else. They both have a gene that runs in their family that dramatically increases their risk of developing colon and some other types of cancer.
"There was a history of colon cancer in our family," said Karen.
On Karen's father's side, they can trace it back to his mother, his sister and his grandmother.
Karen is also a survivor. And so is 24-year-old Emily, who was diagnosed at age 19.
"It kind of aged me quickly," said Emily.
"At some level I was prepared for it maybe later in her life, but at age 19 it was completely devastating," said Karen.
The condition is called hereditary nonpolyposis colorectal cancer, or Lynch Syndrome.
"It's a form of hereditary colorectal cancer and it runs in families and they're at risk not only of colon cancer but of a variety of other cancers," said Mayo Clinic Gastroenterologist, Dr. Amy Oxentenko.
Dr. Oxentenko says if you have Lynch Syndrome, there's a 50/50 chance you'll pass it on to your children. Genetic testing can verify if you are a carrier.
"If you find out you have it, based on your family history or any kind of testing, you need to begin a very vigorous screening and surveillance program," said Dr. Oxentenko.
The program includes colonoscopies starting at age 20 or younger, depending on your family history. Upper endoscopies will be done to check for stomach and small bowel cancers, plus early and regular screening for gynecologic and kidney cancer.
The goal is to catch pre-cancerous or cancerous lesions early while they're still curable.
Emily and Karen are both doing well. It's been 5 years since Emily's diagnosis and she is now cancer free.
Emily was in college when she was diagnosed, but she didn't let cancer stop her. She kept going through treatment and got married afterwards.