Genetic Counseling 101

First things first: My pre-surgery consult, which would have invovled a number of different entities including anesthsia, ostomy techs, and the surgeon, has been postponed until 8 Feb. The results of my genetic tests have not come in yet, and they are needed to make decisions regarding my surgery.

What is genetic counseling? It encompasses a number of things. The obvious one is to examine family history to determine in a gross sense if cancer is prevalent in one's family. My couselor drew up a family tree going up to grandparents, and we discussed each individual on it and health issues. Since there was no incidence of cancer in this diagram, the obvious conclusion is that my cancer is not hereditary...although like some other unusual traits it can skip generations and hide out as a recessive gene.

The second phase of the counseling is to determine whether one posesses the genes for syndromes that are associated with one's specific cancer AND are of a nature that can be passed down, whether from a recessive gene or from a mutation of an individual's gene structure. To determine this, they need samples of the cancer itself as well as healthy cells, usually taken from a blood sample. The day I had my counseling I also had to give a blood sample to my chemo nurses, so I made it a "two for one" deal. I am totally over the whole needle thing now, having been stuck so much. So they got my blood, and they had a tissue sample from my 'scope back in November.

So what are they looking for? In my case, hereditary nonpolyposis colorectal cancer (HNPCC) also known as Lynch Syndrome. It increases the risk of other cancers, and is passed on to one's children who become a higher risk for colorectal cancer as well. A positive test for this syndrome makes it important to ensure the kids are screened early and often. Likewise, a negative test will put one at ease, knowing the kids are not at any increased risk.

Additionally, they are looking for a condition known as Attenuated familial adenomous polyposis (AFAP), which has different manifestations than HNPCC with somewhat different considerations regarding surgery, but the bottom line is that both conditions are hereditary - thus a positive result would lead to screening of one's children in the future.

Since my results are not in yet, there is no reason to have a pre-surgery consult tomorrow - as those results will influence the decisions we'll have to make regarding the surgery. The unknowns had been bothering me quite a bit lately, but I reached a point where I was "worried out", and once it was out of my system (after talking it out with my wife and family) I'm back to the old Charlie, chin up and enjoy being healthy and happy for now. I'll deal with all the pre-surgery screenings, appointments, and minutiae as they come along. Today provided a perfect example - there's nothing I could do (or they could do at Tripler) to get my results in by tomorrow (the lab is on the mainland), so no need to stress over it. Reschedule and carry on.

Finally, to take my mind off of the sixteen million things that have been bothering me, I've finished my surfboard project yesterday, and it came out nice. Before I take it out for a try I need to hit it with a few more coats of varnish, give it a proper polish and she'll be done. Pictures to come. Expect a launch early next week, probably at Waikiki.

I hope this clears things up a bit for you all. Next up will be a more detailed examination of my post-surgery plan for recovery and chemotherapy (much longer and more involved than the pre-surgery chemo).