Sharing the knowledge

I have been talking about having this CDH-1 genetic mutation, but never really told anyone what it was.  So if you are interested in my understanding of what is going on then read on.

So what is this genetic mutation? 

To understand this you need to know about the CDH-1gene. Everyone has two copies of the CDH-1gene.  According to the “Genetics Home Reference” website, the CDH-1 gene provides the protein that surrounds the membrane of certain cells (http://ghr.nlm.nih.gov/gene/CDH1). The function of this protein, or E-Cadherin as it is called, is to help neighboring cells stick together to form organized tissues.  It tells the cells where they can go and cannot go.  Now for this to work properly the genetic coding within the CDH-1 gene needs to be complete. 

At some point in time, in my family’s history, one of the CDH-1genes being passed down on my Mom’s side of the family changed.  From what I understand, part of the genetic structure of the CDH-1 gene is missing.  There is no way to know what happened to it or even when it happened.  We just know that it's not there and could potentially play havoc with my life. It is like putting together a puzzle and getting to the end and there are pieces missing.  My genetic puzzle is just not all there (Yea I know, you all knew that). 

When you are conceived you inherit two of these CDH-1 genes; one from each parent.  Which gene you get is a tossup, it just depends on which gene is more dominant at that particular time. Then, if you have the CDH-1 gene mutation, you have one good gene and one mutated gene. When you have children, you pass one of the two CDH-1 genes to your children and it is literally a coin flip as to which one you pass on. The good news in all of this is that now we know about it.  We can look for it, test for it, and manage it before it has a chance to erupt into a deadly cancer that wipes out part of our family.

One other thing you should know.  The decision to remove my stomach came after it was discovered that I may have Barrett’s Esophagus. Barrett’s is a condition where the lining of your esophagus is being eaten away by the acids in your stomach. Barrett’s usually occurs after years of prolonged acid reflux. It was found during the endoscopy at Mayo. The area of concern is right where the esophagus is connected to my stomach. In a number of cases this can be pre-cancerous. This news was really the last straw with this whole stomach thing. This area will just need to leave with the rest of the stomach. They had planned to take that area of the esophagus out anyway. The doctors at Mayo are not too worried about it worsening so there is no need for any further precautions or testing. Right now I still feel fine and my assumption is that I will continue to feel fine up to my August 4^th surgery. 

On a lighter note, we are in the final planning stages of event #2.  Boundary Waters! 

I firmly believe that I didn't need anyone but me
I sincerely thought I was so complete
Look how wrong you can be

(Every picture tells a story   Rod Stewart)