The Secret Posts: part 2

Written August 30, 2012

We met with a genetic counsellor yesterday. We weren't supposed to, but when I saw Jen the day prior, it got me thinking that we should. We filled out forms back in December to get requisitions for a p53 blood draw. We never got the reqs and put it out of our minds. The geneticist said the likelihood of either us having this mutation was slim, so why bother with a blood test to prove what we already know? Well, now it's not just me and Kris who need to worry, it's this little embryo tucked in my belly that has a million question marks all over it.

Our options are these:

1) Do nothing. Continue down the same path we are on now, which assumes that Eleanor's Li Fraumeni is a mutation that lives in her and only her and everyone else will be cancer-free forever and ever, amen.

2) Do the blood test. It will take 6-8 weeks to get the results, which will probably be negative, and continue down the path laid out in Option 1.

3) Push past the notion that WE are carriers and check to see if our GONADS are carriers. It is possible that my eggs and/or Kris's sperm could have a mutation that creates cancer babies. It's extremely rare, but still possible.

If Option 2 or 3 comes back with evidence of a mutation, we have a 50% of making more Li Fraumeni babies. They could do an amniocentesis at 16 weeks gestation and determine once and for all if this little dude or chick in my tummy is the same as Eleanor. Then we decide what we want to do - terminate or do this all over again.

But if everything comes back clear, and I have a healthy pregnancy and a healthy baby, this child will be the closest genetic match to Eleanor. I am desperately trying to get her oncologist on the phone so we can talk Mad Hatter science. He is ALWAYS asking if I'm pregnant or "are you thinking about more?" which are grossly inappropriate questions, but I know he has some tricks up his sleeve. I know he wants to do a stem cell transplant on her to see if he can erase the Li Fraumeni mutation. Wouldn't that be something?

So we have a lot to think about. A lot more than nursery colours or what style double stroller to purchase, that's for sure!