Trip #4 to the big city completed!

Mom said be prepared to make about 30 trips to Toronto after being diagnosed with this gene mutation.  I’m starting to believe she wasn’t exaggerating.  Wednesday marked the 4th trip to Toronto.  Let’s do a quick recap. Trip #1 – met with genetic counsellor to discuss pros and cons of being tested – blood is taken. Await results.  Trip #2 – receive news from genetic counsellor that I have the CHD1 gene mutation.  Boo! But, ultimately good.  Trip #3 – met with the gastroenterologist who will be doing my surgery and set surgical date.  That brings us to now. Trip #4 – met with fertility specialist to discuss future family planning.

We were referred to a fertility specialist at Mount Sinai because we had questions about in vitro fertilization.  It was a very informative meeting for both us as well as the fellow, resident, and head doctor.  We first met with the fellow who took our medical histories.  Again, he did not know about this gene mutation so I used my Oscar length speech to explain what it was and why we were there.  He educated us on what was involved with in vitro fertilization.  It was very educational.  After he discussed the portion about the extracting the eggs, he turned and looked at Brandon. Brandon started to laugh a little.  I wasn’t sure why but we continued on talking as if that didn’t happen.  Later I learned that Brandon thought the fellow was going to talk about how they would obtain his sperm.  He was prepared to say, “trust me I can handle it”  or “if you give me a chance, I’m sure I can pull it off”.

After he took an extensive history, he went to get the specialist who was also accompanied by a resident.  She explained to us that she had never done this before for a CDH1 gene mutation but it should be possible.  She was fairly certain there were markers available because the blood test was possible. She just needed to find out if there was a lab that would do that – possibly one in Detroit.  Good to know because if no markers are there, no chance that its even possible to do the pre-genetic testing.

Besides the whole educational aspect about what is involved, I had a few questions of my own specific to CDH1 and in vitro which I’ll list here for easier reading.

Q: What is the risk of using the artificial hormones (estrogen) to stimulate the eggs and breast cancer?

A: The risk isn’t any greater than just taking birth control.  Phewf!

Q: What are the chances of having an embryo implanted with the CDH1 gene mutation because the screening wasn’t as accurate as we thought.  We asked this because this isn’t very common with the CDH1 gene mutation and we would be the 1st ones in the region to do this.

A: The doctors assured us that the risk is very low and unlikely.  That was also reassuring.

Q: What are the risks that more than one embryo would implant?

A: Because I am young, they would only implant one embryo.  The risk is low that twins would occur because only one embryo is being implanted.  Carrying one baby without a stomach is high risk so I couldn’t even imagine carrying two.

We felt better about the whole process after speaking with the specialist.  Pregnancy is a long way off now that I must have my stomach removed 1st but this appointment provided some good insight into future planning.  Right now we are dealing with what we know, and we know the cancer needs to be taken care of.  We hope that I won`t need chemo because that will affect the integrity of my eggs (in which my eggs would have to be removed now and frozen until we were ready).  But we won`t know about that until after my stomach is removed.  On a side note, if I do need chemo, the price of the in vitro is one-third less because it is medically necessary and I would be able to freeze eggs prior to starting chemo. I don`t like to put too much weight on this because up until now, most prophylactic gastrectomies done here in Toronto have had early stage cancer and the people have not required chemo or radiation. Yay!

On the way home from the appointment we talked about some difficult in vitro scenarios. For example, what if…..we had our first child with in vitro and then accidentally got pregnant with a second one naturally.  If we go the in vitro route, we likely will be doing it more than once because we would ideally like to have more than one child…but who knows..only time will tell!  Again, babies are a long way off.

Next up, visit #5 – pre-op! March 19th.

One thought on “Trip #4 to the big city completed!

  1. Pingback: Whooaaa We’re halfway there – 6 Month post op | Cytosine Deleted – Life with the CDH1 genetic mutation

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