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Wednesday, September 15, 2010

Genetic Counseling

Yesterday was Jojo’s and my initiation into the world of parenthood. We were at the Magella Medical Center for our genetic counseling session. Basically, all parents-to-be are encouraged to attend genetic counseling sessions. But if the mother-to-be is 35 years and older, it is required attendance by the State of California. So, at exactly 9:00 am, Jojo and I were sitting in the waiting room filling out loads of paperwork. About 20 minutes later, we were ushered into the office of Ira, our genetic counselor.

Basically, genetic counseling is where a certified geneticist goes over your family history (in every microscopic detail) and then discusses with you facts, statistics, and loads of information about possible genetic diseases and deformities your baby may be born with. No matter how nice the office is and no matter how genuinely warm our counselor is, there is no sugar-coating some pretty gruesome facts. There are so many possible problems a baby can be born with – Down Syndrome, Muscle Atrophy, Autism, etc, etc. Each one (and there was a lot) was explained in painstaking detail as well as the stats (like how likely, percent-wise, it could happen to us based on our race, family history and age). Throughout most of the session, I was sitting there shell-shocked and imagining the worst.

Ira then discussed the possible tests in order to determine if our baby could have these defects. The basic tests include an ultrasound to measure the baby’s neck size and a couple of blood tests to see if Jojo and I are carriers of certain chromosomes. After that, there are other more invasive tests (that are pretty scary to consider). Also, all of which run the risk of possibly miscarrying the baby. Of course that makes me even more paranoid! I was glad Jojo was there because he is always the rational one and he was the one who decided we would do the two basic tests first and if the tests appeared to be positive for any anomaly then we may consider the more invasive procedures.

Our next step was to go into the ultrasound room to measure Jellybean’s neck size. I was so nervous and praying so hard that the size would be normal. Jojo was seeing Jellybean for the first time and was just excited to see his baby on a giant t.v. screen. As the technician tried to get measurements, she was laughing because Jellybean was so extra active. He/She was dancing around and moving so much we could not get an accurate picture. It was like Jellybean knew we were watching and wanted to put on a good show for us! Normally an ultrasound takes 5-10 minutes, but I was lying there for close to half an hour while the technician tried to get a good shot of Jellybean’s head/neck. I had to lie on my back, shift to the left, then the right, then back again, trying to get Jellybean in position. All this time, I was so anxious to find out if Jellybean’s neck size was within the normal range. Finally, after several attempts (the technician even had to resort to lightly shaking my belly over and over again to move Jellybean around), we got the needed screenshot. Jellybean’s necksize was 1.9 mm. Anything below 3.0 mm is considered normal and above that indicates possible genetic defects. I cried tears of relief. Also, we found out the Jellybean is now exactly 3 inches long from the top of his/her head to the tips of his/her toes. No longer a “jellybean” more like a Gummi Worm =)

I had to get some blood tests done afterwards just to make sure I was not a carrier of certain chromosomes. The results come out in 7 – 10 days. Then Jojo needs to get his tests done. After that, we both need to be re-tested after 6 weeks. And another ultrasound when I am in my 6th month. All these not to mention my regular visits to my OB-GYN plus my regular lab work too. So many tests and procedures!

While the neck size is normal, the blood test results will give us an even clearer picture. So even if I am a little relieved after yesterday, I am still praying the test results come out negative. SIGH. Jojo and I are not even “parents” yet and already we are subjected to worrying and hoping for the best for little Jellybean. This just makes me appreciate everything my own parents have gone through for me!


mom said...

I know the feeling, of your heart thumping, your palms sweaty, and a lump is in your stomach, when waiting for the results of a medical test. I am thankful you get the best medical attention there and even more that the results came out good. God is good!!!

Junarakasa said...

AMEN to that, mom! =)