Thursday, February 2, 2017

Searching for Answers

My oldest daughter, Jesi, also tested positive for the CDH1 gene mutation. She had genetic testing done as soon as I was diagnosed with breast cancer because she actually had risk on both sides of the family.  She had her blood drawn the day before mine.  Hers was sent to a lab that was supposed to take two weeks longer than mine, but she actually got her results back a week before I got mine. However, she didn't tell me until I had my results as she was hoping it would be from her late dad's side of the family and I wouldn't have to worry about it.

 After spending several months researching ourselves and talking with genetic counselors, medical oncologist and gastric surgeon in Kansas City and not talking with anyone that had ever seen a patient with a CDH1 genetic mutation, we decided to go someplace where we could talk with people that have actually dealt with this gene mutation.  Through a friend of a friend type referral (not from any of our doctors), we connected with Dr. Paul Mansfield at MD Anderson in Houston and Jesi and I both met with him January 7, 2016.  We also met with a genetic counselor at MD Anderson. Both Dr. Mansfield and the genetic counselor have several patients with this gene mutation.  In some ways, we didn't learn anything new, but it was still helpful to hear it from someone who has seen it before.  

I had tried to convince myself that our family didn't fit the "typical" family with the mutation and HDGC (Hereditary Diffused Gastric Cancer) because we didn't have as many incidences of gastric cancer as most families; the genetic counselor said that actually we are a typical HDGC family.  They are finding more CDH1 mutations since it is now in the breast panel gene testing, but it is still a rare genetic mutation.  Because of the rarity and the small sample sizes, it is hard to determine the actual risk of gastric cancer, but they still believe it to be somewhere between 50-80%.

We heard the same answer that we had heard before, but it was helpful to hear it from someone with experience.  The only preventative measure is to have a prophylactic total gastrectomy.  The only recommended screening if you choose not to have a gastrectomy or before you do, is annual endoscopies with random biopsies.  Because the cancer develops in the stomach lining, it rarely shows up on an endoscopy, but that is the only screening available.  Jesi and I both had endoscopies done the previous summer because of the mutation, but rather than the 30 recommended biopsies, I had 3 and I think Jesi had 5.  Thus, the problem with seeing a doctor with no experience with the gene mutation.

The gastric surgeon we saw in Kansas City assured us that even though he hadn't done gastrectomies for CDH1, he has done plenty of them and "removing a stomach is removing a stomach."  What we learned at MD Anderson, is no, there is a difference in how you need to do the surgery so that you make sure you get every stomach cell, etc.
What I decided in January was that as much as it scared me to have the surgery, it also scared me not to.  At that time, I was leaning toward having the surgery, but waiting a year to do so.  I wanted the time to get myself emotionally ready, physically ready, ready at work, not miss any events around two weddings in 2016 (my youngest daughter and my nephew), etc.  I did of course run a risk by waiting, but I felt like I would be much more at peace with the decision in a year, so was willing to take what I thought/hoped was a small risk in waiting.  I decided in January, that if I did the surgery, I would definitely do it at MD Anderson rather than KC.  I learned that it would be approx 5 days in the hospital and then they want you to stay in town for another week in case of complications.  I felt that as much as I would rather be near my family and friends during that period, if I was gong to do this, I wanted the best and that was in Houston.  There would still be plenty of recovery time at home as the anticipation was to be off work 2-3 months.  Thus, part of the reason of wanting time to prepare.

My word to family in January 2016: "I don't like it, but that's where I am."

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