Sunday, November 20, 2011

Diagnosis Down Syndrome

    Although I had secretly wished and prayed for a family over the last couple of years, the moment i saw that plus sign on the pregnancy test i was terrified. Until this point I started to think that having children just may not be in the cards for me. Nearing twenty- eight years old I was ready to take on the responsibility although it required major changes in the lifestyle I had become so accustomed to. It would not be easy. Little did I know this would be the least of my worries. There were changes to come, and the next year of my life would reveal one plus sign after another.
    The first few weeks of pregnancy took a toll on my mind but by the time i was ready to announce it to the world i knew it would be a challenge that i was ready to endure. That warm fuzzy feeling was shortly followed by morning sickness! (By morning I mean all day and night!) Things started to get a little scary when one of my first prenatal tests revealed that i had a bacteria in my body that was dangerous to the baby. Although i was assured it could be treated i developed anxiety that would haunt me for the rest of my pregnancy. The following couple of weeks my doctor presented me with an optional blood screening for genetic disorders and tubal defects called a quad screen. She said "Most women your age choose not to take this test because they are not at risk for any of this, so read over it and if you think it's a bunch of garbage then throw it away. If not, go and get your blood drawn during your sixteenth week of pregnancy." I didn't think too much about it at that moment but over the next two weeks it would become my obsession. I wanted to know everyone's opinion, what they had thought about the test. Brian (my fiance) thought taking it would only add to my anxiety. I agreed, but I still had a strange feeling that i couldn't shake. After work one day I broke down to my best friend. I said with tears in my eyes "What if my baby has down syndrome?" She thought I was crazy and hormonal. That whole sixteenth week I procrastinated taking the test. The last day i woke up panic stricken. I jumped in the car and drove to the lab before it closed.                          
      Sure enough a few days later another doctor was showing me another plus sign. My blood screening had read positive for Trisomy 21. The doctor explained that one in three of these tests were false positives and he highly doubted that my baby had down syndrome but I would be sent to Jacksonville for a fetal sonogram to check for markers. I was hysterical. The appointment wouldn't be for two more weeks and so in that time everyone around had convinced us that this was a fluke. I can't even tell you the many, many stories of this person and that person that were told their child would have down syndrome and didn't. I still hear them! We went there that day to Jacksonville with our chins up and only positive thoughts in our heads. On a brighter note we knew we would get to see the baby and the sex would be revealed. After waiting and waiting we were finally able to see our baby on the screen flipping and kicking and going nuts. It was amazing! When she said it was a girl we cried tears of joy! We really wanted a girl. Ten minutes later they were telling us that she has a major heart defect and the chances of her having down syndrome are 1 in 2. If that wasn't hard enough to swallow they were giving us the option of amniocentisis right then and there. We were so shooken up we didn't even think about it. We just did it. The results would take 48 hours to come back and let me tell you those were the longest two days. At that point i knew the results. My worry was now with how Brian was going to handle this. He was still in denial that this could happen. So was everyone around me and I wanted to believe them. When I received the call from the nurse I quivered in fear as she apologized over and over for yet another positive test result. Then she told me I had the option to terminate. I couldn't believe she even said it. That was one thought that never even crossed my mind through all of this. I was nearly half way through my pregnancy! The next few weeks were the hardest time of my life. I grieved the loss of my "normal" child. I wanted to crawl in a hole. Deep down though i knew this was meant to be. Brian now became my rock. He embraced this with so much love and compassion. I couldn't have asked for a better person to be the father of my child. My friends and family were also amazing. I don't know what I would have done without that support.
     I would continue my pregnancy in fear but I knew i had to try and be strong. There was lots to do to prepare. I kept positive even though inside i was dying. I can't tell you that knowing the diagnosis helped me one bit emotionally. I pumped myself full of knowledge but I still had much anxiety and depression. I was unable to work after month 7 because of a torn abdominal muscle that was very painful. With all of the time i had on my hands it gave me the opportunity to do a lot of research and meet many wonderful people within the down syndrome community. The depression began to fade but the anxiety would remain. I had no idea what to expect as far as my child's health. The spectrum is so large. Some days I felt wonderful and others I would break down. At 37 weeks the doctors decided to induce my labor because the baby was falling below the tenth percentile in size. My fears escalated and I went back to stage one, terrified.


  1. Wow reading your blog has truly touched me. I think you are an amazingly stong women with great support behind you and now a beauitful strong little girl. Continue to post as you go though the journey and milestones. I look forward to it. Best of luck to you with everything.

    Kristen Riecke

  2. Those early days post-diagnosis are difficult ones. It shakes your whole world view. However, it is now a fading memory in a life that is full and happy.

    It's important that we share our stories so that other women who find themselves in our position do not feel alone and helpless.

    Thank you for sharing and thank you for participating in the T-21 Blog Hop, July 2012

  3. As Jen says, our stories are so important. All of them vastly different. All of them vital. All of them bringing hope to someone in what could be their darkest hour.

  4. Isn't it amazing how supportive our husbands become? Thank you for sharing.

  5. I was really moved by your blog. For very different reasons to you I was anxious and depressed throughout my pregnancies, and I know how hard it is when people expect the blooming mum-to-be. I'm so glad you had the support and love of your fiance and family.