After our RE appointment last Thursday, I called back the
doctor’s office who did the D&C and asked for a call back regarding the
chromosomal findings on the baby. I wanted to make sure there wasn’t a
translocation found. I received a call
back from the nurse who I had originally talked to. I inquired of the findings and specifically asked
if there was the word “translocation” anywhere on the pathology report. She assured me it simply said “male trisomy 13”. I then asked her to send me a copy of the
results via regular mail. She said she
would. I hung up, and I didn’t think twice. I felt reassured. I was still a bit
annoyed that the nurse was reading me the results rather than the doctor as the
perinatologist did with our first loss.
Fast forward to this Wednesday night, G checked the mail and
asked me to not open it that night (bills from pregnancy losses suck the life
out of you and almost always land me in tears).
I was feeling emotionally okay but that week I had a weird feeling that
something was going on. Intuition. I needed to open the mail.
I opened the envelope from the D&C doctor “UNBALANCED TRANSLOCATION” clear as day. I have no medical degree, but I can read. I cannot even explain to you the sinking in my chest. The pain on my face told G this wasn’t just another hospital bill. The remainder of the night was silent.
I opened the envelope from the D&C doctor “UNBALANCED TRANSLOCATION” clear as day. I have no medical degree, but I can read. I cannot even explain to you the sinking in my chest. The pain on my face told G this wasn’t just another hospital bill. The remainder of the night was silent.
We had our RE appointment the following day where she was
supposed to be giving us test results, but instead we disclosed this “bomb” of
sorts. She was just as stunned as
us. It changes everything. She went over our test results which were all
just a daze at this point with me crying in between. G is perfect with the exception of his 50%
chance of being the carrier of the translocation. I am perfect with the exception of a blood
clotting disorder and the 50% chance that I am the carrier of the
translocation. The translocation is balanced in us which means there are no
outward/inward signs except when we try and reproduce. Granted there is a less
than 10% chance the translocation occurred “de novo” or by chance but please spare me if you think we are on
the fortunate end of the odds game this time.
As my RE said, we are growing sick of being “burned”. So, as I do believe (due to odds and our
pregnancy history) one of us is the carriers this means there is a 20% chance
that we will have a healthy pregnancy. Luck
of the draw.
Where does that leave us?
To put it bluntly, it leaves us playing a “game of chance”. What are our next steps? We need to meet with a geneticist to have karyotyping
done to see who the carrier is and to learn more about where the translocation
occurs. We need a second opinion from
another RE regarding IVF with PGD (Pre Genetic Diagnosing) CHA CHING! I need to start taking baby aspirin for the blood
clotting disorder. We have to discuss our options.
So, that’s where we are in the not so glamourous life of genetics, recurrent miscarriages and all things fertility. I apologize if we have plans and I cancel, if I don’t answer my phone or text you back. I feel like a bulldozer just buried me with a heap load of rocks. I just need time. I need time to think, time to take care of myself and my marriage.
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