Hi Ladies,
First, Charlotte, yes, I am scheduled for surgery September 10. I have to have a proctocolectomy (IPAA) and J-Pouch to, like Charlotte, prevent cancer; and the chances are strong I can have everything done in a single surgery. 7-10 days for recovery in the hospital, I'm told - maybe a day off for chewing lots of gum after I wake up
Second, Sara, thanks so much for thinking of me while you had an opportunity to do some learning during your summer internship. I think it's great you are able to pursue professional opportunities related to something so unfair that popped into your life. I am reminded of the saying, "When you get a lot of lemons, make lemonade."
I've been trying to make lemonade, too. Most significantly, my wife and I just got back Thursday from a great Second Honeymoon trip, a week on Maui. We've been married for 12 years, and when it became clear I would need this surgery, but unclear how it might effect me in the longer term, I was determined to at least schedule things so we could enjoy a full summer of good health and do some things we would not have to regret later having missed.
In addition, I am seeing my surgery and hospitalization as the best chance I'll ever have to quit smoking cigarettes; and as someone who is always a hard worker, at home and professionally, I have also framed my upcoming recovery period as a time of much needed, well-deserved rest for myself.
(I've been stocking up on movies, reading and music to help pass the time between laying down and becoming best friends with my bathroom. (Maybe I should build some bookshelves and set up a little home office next to the toilet?)
What we have learned about my MYH mutations through Emory's lab and my UNC genetics team is about the same as what you've shared here, Sara. It is nearly a certainty one of my mutations is on each copy of the gene, but we had blood drawn from my 8 y.o. son in late July to test for any MYH mutation in his genes; that, in turn, will most likely find him to be a carrier and therefore confirm that my mutations are not on the same side as one another - a very slim possibility that, according to the UNC folks, could send us back looking for a previously undetected APC mutation. [I hope to gawd not, because that would put us back to the possibility of my kids having a 50-50% chance of inheriting the polyposis disease, instead of the much more remote (1 in about 200) chance of inheriting the condition via MYH recessive transmission.] Selfishly, it will be hard enough dealing with my own changes, I would do anything to eliminate the chance of having to worry about passing the same stuff down to my kids!
Like you said, Sara, the learning in the field about MYH is still very new and incomplete. The folks at UNC actually used my test results in June as the focus of a class session, as they had not previously encountered my combination of these mutations. That process helped them realize the sequencing tests at Emory could not definitively tell them whether my mutations are on both sides, versus on a single side, of the MYH gene; so the testing for my son was seen as the next logical step. (We have not had my wife tested for carrier status at this point, but like you, I understand that to be about a 1-2% incidence.) My wife and I wonder if this all makes sense to you, Sara?
Now that we have enjoyed our wonderful trip to Maui we are beginning to let some more reality set in, and begin to prepare for things. I am actually very proud of myself for not having let this whole business get me down in a funk and squader away these healthy months for me and my family. I still have scheduled a couple more business trips between now and my surgery date, in part to keep my mind full of productive considerations; and if I want to allow myself to get bummed out - even in light of this great opportunity to avoid virtually certain CRC - then I can at least compress all that into the timeframe around and after the surgery itself, right?
Thanks for the tip on the January journal article - not sure whether I've already read it, but I'll check it out after I sign off here. Meanwhile, my sense from the professional literature is that the field is really moving forward, we may be within striking distance of a new level of understanding that can lend itself to earlier detection, less invasive prevention strategies than surgery, and an overall greater success rate in finding and defeating genetically-caused cancers. It is an exciting time to be entering this field of genetic oncology, Sara - good for you!
Ongoing best wishes to everyone here,
~~ Frank in NC ~~
