The "Beating the CDH1 Gene Mutatuion" Story

It was an ordinary day.  Visiting with our daughter Brynn and her family who live in Urbana, Maryland.  We were talking when the door opened and in walked one of the bravest young women I believe I have ever known.  Terri is one of Brynn's neighbors and also one of her closest and best friends.  

Terri talking about coping with her
recent stomach surgery.

 Terri has a story to tell that is fascinating as well as frightful.  It all started back in July of 2014 when her dad finally found out by accident that he had stomach cancer after having an endoscopy for an entirely unrelated issue.  He had surgery for his stomach cancer in July of 2014 and had three-quarters of his stomach removed to stop the spread of the cancer.  He underwent chemo and was pronounced cancer free in February of 2015.  It was then that they linked his type of stomach cancer to a human gene known as CDH1.  The gene is associated with a very specific gene mutation that can run in some families and when the mutation occurs, there is a greater than 80% lifetime chance that you will develop stomach cancer.  When you are conceived, you receive one gene from your mother and one from your father.  To get the CDH1 gene mutation, one of your parents must be a carrier of the mutation that is then passed on to you.  Terri's father is doing well, but will eventually have the remainder of his stomach removed to totally prevent any re-occurrence.  In Terri's case, she had a 50/50 chance of having the gene passed the gene onto her.  Terri had a test done that determined that she also was a carrier of the gene.  Her sister tested negative and her brother has yet to be tested for the gene.  Terri's two children, who are both under the age of 18, will someday also be tested to see if they possess the gene.  The CDH1 gene mutation usually emerges in those who have it between the ages of 22 to 50.  Terri is on the high end at age 42 and the only option for her to assure she doesn't get the cancer was to have her stomach entirely removed.  Right now there is no early detection for stomach cancer and when symptoms occur, it is usually in stage 4 which gives you a 4% chance of living 5 years.  She knew immediately knew that she only had one option to be sure she would be cancer free forever and be around to watch her kids grow up.  She elected to do the surgery, called a total gastrectomy.  She decided that to show her children if they should also have the gene that it would be wise to have the surgery done and she will be living proof of the success of the surgery.  

Dr. Sam S. Yoon

On July 11, 2015 Terri was operated on at Memorial Sloan Kettering Cancer Center in New York by Dr. Sam S. Yoon who is a surgical oncologist specializing in the treatment of people with sac comas and stomach (gastric) cancer.  She had her stomach totally removed with the small intestine now connected to the esophagus.  After finding that pathology reports found her stomach had pre-cancerous cells that would probably manifest themselves in less than 3 years, she realized she had made the correct decision.  Today as Terri sits in front of us telling of her ordeal, she is cancer free.  She has lost about 20% of her body weight which is the approximate amount that she expected to lose.  She must not lose too much more or a feeding tube will have to be inserted for nighttime feeding to keep her at a healthy weight.  Her menu consists primarily of grilled chicken, eggs, tuna and peanut butter.  She may have no sugar, since it may result in cramps and nausea.  She is very limited as to what raw fruits and vegetables she can consume since many contain natural sugar.  She may not eat red meat since the stomach is needed to digest that.  Most milk is not allowed either since it too contains traces of sugar.  She tends to get full quickly and now finds that she no longer craves food as she did in the past.  If she would find she can't pass what she does eat, she must use a magnesium based product to clear the blockage.  She can drink some wines and liquor, but no carbonated beverages.  Water and unsweetened ice tea are beverages that she can drink.  Your stomach is the size of a normal adult's fist and without it your digestive system totally changes.  Imagine yourself not being able to eat your favorite foods anymore or drink that glass of soda or even eat that piece of chocolate that you crave.  That is the case with Terri.  She no longer fears what could have been.  But, she is not totally home free yet.  The gene also carries a 50-60% chance that she may also develop lobular breast cancer.  Three of her family members have had lobular breast cancer so chances are greater that she may also develop it.  For now she is being watched through breast mammograms and breast MRI's.  Her doctors are encouraging her to undergo a double mastectomy to reduce the risk of contracting breast cancer. This type of breast cancer is harder to detect because it does not grow in tumors, rather in spider like webs under the lining of the breast.  I'm sure her thoughts right now are filled with what will come in the near future in order to once again give her peace of mind.  I think of all the ailments that I have had to withstand the past few years and realize that I am so lucky after sitting with Terri and hearing what she has gone through already in her young life and what she may have to go through in the near future.  So, you see, this is one courageous young woman whom I admire and hope the best for in the future.  I just know it will all work out for the best!  It was another extraordinary day in the life of an ordinary guy.