Tuesday, March 18, 2008

And It's A.......

I am writing in my blog today because it is the first day, since our scare, that I can finally collect my thoughts and put my feelings into words.

Two weeks ago I opted to do what they call the triple screen blood test. This test is non-invasive and tests the blood for the three major genetic disorders- Downs Syndrome being one of them.

I got a call last Wednesday from my doctor, asking me if I had some time to talk and I knew right away that it couldn't be good. I was driving and had to pull over to the side of the road. She said my blood test came back abnormal and positive for being very high risk for carrying a fetus with Downs Syndrome. I crumbled...I was in shock and didn't know what to do.

She explained the first step would be the Level Two Ultrasound. This is how the doctor can take a look at the organs and check for what they call markers. Specific markers for Downs include a thickness at the base of the neck, weakness/flatness in the nasal bone, spots on the heart, dilated kidneys and shorter limbs to name a few. She said, after that, depending on the results, we could opt to do the amniocentesis. This is a test that Rob and I were trying to avoid since we know and understand how high risk it can be but we looked at the odds.

The Amnio is when the doctor takes a long needle and puts it into your stomach and through your uterus. He then draws about an ounce of fluid out of the amniotic sac. The diagnostic tests can then be conducted and this test is the only one that provides you with 100% accurate information/confirmation on genetic disorders.
Well because of the invasive nature of this procedure, there is a 1 in 600 chance of miscarrying. Normally, I would say no way however, because of my blood test results (being at a risk of 1 in 48 for carrying a baby with Downs), we opted to do the amnio immediately after my level 2 ultrasound.

What made me more nervous and upset was that my doctor's office called again first thing on Thursday morning and told me they could squeeze me in on Friday morning AND they were bringing in one of their doctors from Beth Israel. I told their office that we wanted the amnio, no question so they were able to get Dr. Lim from BI to do that as well after the ultrasound.

So, Rob and I headed to mass first thing on Friday, grabbed a bagel (barely choked it down) and then headed over to Winchester Hospital. I was crying when I walked in because I was so scared and so sad...I kept thinking..what did I do wrong? Was their some history in my family I didn't know about?

Well I have to tell you that the staff at Winchester Hospital was just wonderful. I already feel so comfortable going there because my mom works in the lab BUT the specialists were just so calming and could really relate to the fear I was feeling.

The wonderful nurse who greeted us is actually kind of a neighbor, which made me feel a bit better and she assured me that I would probably feel much better after the ultrasound because so many of these blood test results come back as false positives. I was thinking...God I hope she is right! As wonderful as my husband always is...I felt alone...alone, because I didn't want to worry anyone so we didn't tell anyone..not even my parents..which was very tough. So with my husband helping me walk...we went in.

The ultrasound went VERY WELL...it took about 45 minutes...VERY thorough to say the least. As the tech looked at every organ, she was pleased with what she saw. There was NO thickness at the base of the neck...there was a VERY Strong nasal bone...from our view...looks like our sweetie is going to have Daddy's nose (thank GOD!) She also measured the limbs and they were even longer than the target...the baby also weights about 8 oz which means ahead of schedule as well! The kidneys looked great..heart looked great, etc etc....we felt soooo much better.

We then had to go grab a drink and come back a half hour later when Dr. Lim would be arriving from Boston. I was still very scared...felt better about the prognosis but still very apprehensive about the procedure itself and the risk and the unknown.

It was time to go back up and I was shaking but not crying this time. Dr. Lim? Fantastic in one word- he is one of the best doctors in the country..he has four sons and he is one of the most patient people I have ever met. The techs and nurses told me he does amnios so often it is like brushing his teeth- second nature. Their calming words came true. The procedure went very smoothly. It was painful but nothing I couldn't fight and to make matters better, Dr. Lim was very pleased with what he saw on the screen. The baby cooperated too which meant that he was able to quickly get the needle in, withdraw the fluid and then take the catheter out. I was instructed to lie down for the rest of the day and rest. That is something I usually fight but for the first time in my life that is all I wanted to do..whatever I could do to help this baby!

Dr. Lim agreed to process our test and requested the "rush results" where we could get the preliminary information by this coming Wednesday. It is not the full report but it can tell you either way about the Downs concern.

Well, we enjoyed our weekend (that will be my next post) and were able to share some information with our parents, without causing much alarm.

Then yesterday, when I thought I couldn't make it through one more day, my Dr called me. I could not believe I was getting a call already and pretty much panicked immediately (per usual). Dr. Bose had great news for me. The prelim tests came back negative. All of the chromosomes that are tested for Downs came back normal! We still have to wait for our final results however we know the baby doesn't have this disease and we are so happy that she is okay!!!

Yes I said SHE....we are having a girl!!!!!! So Baby Diana Mary is 18 weeks today!!! I think I felt her kick for the first time in church on Sunday night too...on Palm Sunday...I think it was the music of the passion that was getting her going!! :) The picture attached is an ultrasound shot when the tech caught Diana yawning!!! Soooo cute!

We are thrilled and so grateful....prayers work.


Anonymous said...

Hey honey,

I wish that I could have been there for you. It seems more often than not that the results from the triple screen come back negative. I know that they put pressure on me to do it, due to my family's history. Still don't know what I will do, when the time comes. I just wish that I could have been there for you. I did try to contact you last weekend, but I'll let you go to my website www.pfitzauf.fr. I was going to call you this week or send you an email, but I forgot my agenda. :( We are going to Ireland this weekend, but I will try to give you a call the next weekend.
Love and miss you dearly!!

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