Cody Updates by Mom

I would like to start out with my most fantastic news yet.  My first sibling that was tested has tested negative for CDH1!!!  I cannot express how happy I am that they will not be going through any of these challenges.  Even though I am still standing and fighting the good fight I would never wish this on anyone.  It is not easy to make these decisions.  There is an extremely fine line between fighting and giving up.  That little voice in the back of the head that says, just give up and let life just take its own course is always there.  It is always threatening to pull you into a permanent pity party.  Anyways, I am thrilled with this news.

Good news.  I met with Dr. Mann yesterday and filled him in (using the reader’s digest version) of my upcoming surgery.  The good news is that he says that my skin looks great and I have healed very well.  We talked about my reconstruction surgery and he went over the specifics.  It is day surgery and people are usually back at work within two days.  We talked about the possibility of doing the surgery now however there is a chance that the surgery will cause the tissue that was hit with radiation to harden. That is why they recommend to wait six months after radiation to reduce those chances.  We have decided not to do the surgery early.  He did say that as soon as I am healed from an incision standpoint from my other surgeries and feel up to it, that he can do the reconstruction.  This should mean that as soon as the feeding tube is out and I have no infections or open wounds I can schedule my surgery.  There is about a 2 week wait between scheduling and surgery.  My hope will be to get this surgery done prior to me returning to work after the stomach surgery.  This will be the best scenario for me.  I am happy with this timeline.  I will then have my final reconstruction surgery to do two to three months after that. Looks like I will still be able to complete all of my reconstruction in 2015.  Other than my little hiccup with the stomach being removed it is starting to look list 2015 will be a year of putting Mel back together! 🙂

Interesting news.  I met a new person to my care team today. Jennifer.  She is the genetic counselor at Mayo.  I filled her in on my family history that I know at this point and chatted about genetics and my surgery.  We talked about the timeline for Cody to be tested and she is in agreement that we can wait until he is in his mid 20’s before we move toward testing.

I have been meaning to ask someone how all of this starts.  How does a family line get the mutation in the first place?  Well, I now know and it has raised some more questions in my head.  Great, just what I needed.  So, basically mutations have two ways of being.  They are either a part of your whole being where they find it in all of your cells tested or it is a gene that has changed in you for some reason and it only impacts the cells that are changing.  I have the total gene mutation.  This means that it is part of my core and I have had it since conception.

So, how does this type of mutation start?  Well, when the egg is fertilized something can go slightly wrong that causes the mutation. That fertilized egg is now the starting point of the mutation line for that family.  Kind of like “patient 0”.  In the case of what I just explained the parents do not have the mutation but something caused the fertilizing to have an issue and basically get messed up. What does this mean for me?  Well, if all of my siblings and my mom test negative then there are two scenarios that could have happened.  One is that my dad had the gene mutation and passed it down only to me.  Basically, I drew the short straw.  The second is that something happened when I was conceived and I am the starting point of the mutation.  Basically, I drew the short straw again.  If my mom’s side has the gene then we know where it started from and I will have an answer.  If not, I will never really know.  I guess we will cross that bridge when we get there.

Finally, my 4th food stop.  This week I had the joy of taking my team out for a team lunch to celebrate Christmas. My team at work is so wonderful. Both from an ability at work and just from being great people.  Not only have these four walked along with me on my journey they have picked up my slack when I was out earlier this year and they are getting ready to do it again next month.  We went to the Lakeshore Grill at Macy’s in the Southdale mall.  The food was very good but the best part was that they had Crème Brule. Yummy.  I again forgot to take a picture before diving in.  Sorry.  It was a lovely lunch and great company.  Thank you for being such a great team and making my life as a manager so easy!

Finally a little rest from the doctors!  Nothing new until January!  Yay!

Caring Bridge Comments

Love and prayers..from mom|Dec 18, 2014 7:41am
What an interesting post. Glad you are going to be without doctors for a while. You are doing so well and are educating all of us in the process. Sending love and prayers for you.