Friday, March 6, 2009

Genetic Counselor Appointment

So, yesterday we had our appointment with the Genetic Counselor, and it went pretty well. First of all, my doctor told me wrong and it's not a balanced translocation that Josh carries, but a paracentric inversion. It is still a chromosomal abnormality, but totally different. It only involves one of his chromosomes(4), and even though it still has a very high risk for a miscarriage, it's not as high as the balanced translocation, so that's good. I won't really go into detail what exactly the paracentric inversion is, but it is still that he is perfectly healthy and it poses no health risk to him and only affects his sperm cells. But, the Genetic Counselor was really nice and went over everything with us and answered any questions. It was also nice to have more information. It was a little reality check though being in an office that says right on the door "High Risk OB". It's official. I will be seeing the Perinatalogist(spelling?) throughout my pregnancy along with my regular OB.
So, after we talked with the Genetic Counselor, she asked me if I have had any ultrasounds with this pregnancy so far. I told her, no. So she suggested that I have an ultrasound so that the pregnancy can be dated, and all that. Ok...panic attack! I was not prepared for the possibilty of an ultrasound at all! Luckily, I was not alone, Josh was with me. Last year, I was alone in the doctor's office when I found out I had lost my baby, not a good feeling. Anyways, Josh is trying to reassure me that everything is going to be fine. I have been having morning sickness and we have all been praying like crazy! We go into the ultrasound room, and the tech starts asking me a few questions. It is actually kind of nice already being in a high risk ob, because she is used to people like me. I am not a "normal" pregnant woman anymore. I have lost more pregnancies than I have delivered. Anyways, she tells me that she wants to take a few pics transabdominally, but that since I'm only 7 weeks along, we will see the baby better with a transvaginal ultrasound. That is fine with me, since my bladder is already about to burst! I told her the most important thing for me to see is my little baby's heartbeat. She understands and starts the ultrasound. I seriously can not breath at this point, and then she says the most wonderful words I have ever heard in my life, "I see a heartbeat!". Yes!!! Praise God!!! Butterbean, as we have been referring to him(or her), had a wonderful strong heartbeat of 125 BPM!!!! I am so unbelievably happy right now. I have been through so much to get to this point, and had doubts that this would ever really happen. So now it's official...we are having a baby!
The timing is ironic, since it has been almost a year exactly that I found out I had lost my baby. It was March 10, 2008, that my whole world was turned upside down. Since then we lost another pregnancy, and I had pretty much given up when we found out we were expecting again on Valentine's Day. Then, just about a week later we got the devastating news that my husband carries a chromosome abnormality. It has been such a roller coaster ride, and I'm sure it will continue, but at least now I can relax a bit that this baby is healthy. God is good! When I stopped trying to control the situation myself, and gave it all to Him, it is AMAZING what happened! He blessed us!!!! I truly am feeling amazingly blessed at this moment. Emma is so excited to be a big sister that she is talking about in her sleep! No joke...the other night at around 3am, I heard her saying in her sleep twice, "I'm going to be a big sister!", and then nothing. She has also been talking to the baby through my belly. It is too cute.
I have my first OB appointment on the 16th, and I'll be just about 9 weeks and I'll get another ultrasound. Then, on April 13, I'll go back to the Perinatalogist and have a First Trimester screening(blood work with an ultrasound). The only sort of genetic testing I want in this pregnancy is bloodwork and ultrasounds. I already told them I am not doing anything invasive. I told them I am not doing an amniocentisis(spelling?), or a CVS. I am NOT going to risk miscarrying a healthy baby! I am not worried about birth defects since more than likely if something was wrong with the baby, it is never even viable(that's why I always have miscarried early).
But, we are so thrilled that this baby is healthy and can't wait to meet him or her. Now, I just need to get through the next 4 or 5 weeks, then I can REALLY relax!

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