Welcome to my blog!

A blog about our busy family with two amazing kids, one of whom happens to have Down syndrome!

Sunday, November 6, 2011

The Beginning.




Well, I figure a good way to start out this blog is to explain a little bit about how we found out our daughter has Down syndrome.

We went to our anatomy scan ultrasound at 18 weeks on September 26th, 2011. We had already had a "pretty good guess" that our baby was a girl at around 15 weeks, and Greg and I were so excited to find out if it was true! I, of course, had already started shopping for baby girl clothes. I didn't have any "gut instinct" on the sex of our baby this time around. With our first I knew right away he was a boy and I was right. So we couldn't wait to find out what God was giving us the second time around.

We went into the ultrasound room and the tech asked right away if we wanted to know the sex of the baby. We did! She looked around and finally said, "It's a baby girl." At the time I thought she didn't seem too excited, but what did I know? Maybe she gets sick of telling people what they're having all day. After all, I'm sure it's more exciting for the patients. She then said that she had to go review the ultrasound with the perinatologist (a high risk OB doctor) and that he'd come talk to us "if anything is wrong". I've been through this deal before, I know they don't get the big guns unless they see something different from standard.

The doctor came in after what seemed like an eternity. He was really nice, which we greatly appreciate. He said they saw a few things that were of concern. They saw shortened long bones (arm and leg bones), thickened nuchal fold, bright spots on the heart and a heart defect. Right away, I was the one that said, "You think our baby has Down syndrome!" I remembered a ton of that information from nursing school.

"Yes". I cannot even tell you how much I appreciated the lack of sugarcoating. I am a straightforward person. I don't appreciate beating around the bush, especially when it comes to medical information. They right away had us speak with the genetic counselor on staff, Carrie. She was so great! She let us use her office to cry, hug and talk about whether or not we wanted to have an amniocentesis to confirm the diagnosis. One of the big questions we had was, what if the amnio is negative? We were told that if the amnio was negative we'd be dealing with something 'very similar to Down syndrome'.

We decided we wanted confirmation. We made it VERY clear that were NOT considering termination and didn't want it brought up. The whole team was very respectful! Then we went to the ultrasound room to start the procedure. They inserted a HUGE needle through my abdomen into my uterus to get a sample of amniotic fluid. This was guided by ultrasound so they could make sure baby was safe during the procedure. The odds they gave us that our baby had Down syndrome was about 80%. We opted to have the rapid results, known as the FISH test, so that we'd have results within 48 hours.

Carrie, the genetic counselor, called us 2 days later (from home, on her day off!) to give us the news that baby Lauren DOES have Down syndrome. We cried some more, but to be honest, we did a lot of soul searching in the 48 hours it took us to get results. I don't think either of us did more than cry, sleep and research Down syndrome online. We were in a better place to "accept" the diagnosis by the time we got the call. But to be honest, even the week or so after was hard and filled with lots of tears, at least for me.

We are now in a place where we are 100% okay with the fact that our daughter has Down syndrome. Down syndrome is also known as Trisomy 21. A "typical" person has 46 chromosomes. 23 pairs. One set from Mom, one set from Dad. A person with Down syndrome has 47 chromosomes. There are 3 copies of the 21st chromosome instead of the typical 2 copies. I like to think Lauren has 23 chromosomes from me, 23 chromosomes from Greg, and 1 straight from God. We truly do feel that Lauren is a gift from God. I'm not sure what we did to be so deserving of such a gift, but we are so thankful for her!

We know that raising a child with special needs will be challenging. But as parents, we already know that raising a child is challenging! She will have delays. She will probably walk, talk and speak later than her peers. That's okay with us. Our job as parents is to ensure that she reaches her full potential and has a happy life. Isn't that the same job of all parents?

Welcome to our corner of the world. I'll probably talk about Lauren, my pregnancy, my many doctors appointments. You'll hear about our amazing son Ryan, my husband Greg, our families. Hope you enjoy!

12 comments:

  1. Absolutely amazing Jackie! Loved reading your new blog. I'm so excited for baby Lauren to come!!!!

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  2. I can't think of a more amazing family to receive such a blessing. I think this blog is a great idea!

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  3. Lauren is such a lucky little girl! Cannot wait to hear about her development and your growing family.

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  4. thank you for sharing this! i can't wait to read more!

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  5. I love you all SO much! Lauren is certainly a lucky girl to have a big brother as sweet, and loving as Ryan, and such incredibly sincere and loving parents. I love how you want to gain knowledge at this stage. That is going to enable you to empower her to lead the best, healthiest, strongest life. And for Ryan too! You and Greg are amazing parents Jackie. Both of your kids are lucky to have you :)

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  6. Awesome start! Welcome to the "club".

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  7. Thank you for sharing and welcome to the club! It still amazes me that my own 20 week anatomy screen didn't show any markers, even though my daughter was born with a HUGE AV canal and T21. Oh well. I am happy with how it all turned out. Congratulations. I can't wait to follow more about little Lauren.

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  8. You are absolutely right with your perspective about don't all kids have challenges? Yes, some more than others...but life is so unexpected. Having a child with special needs is not the end of the world and with time, it makes your world better. That is what happened iwth my Julian (17 months, he has Down syndrome)

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  9. Thank you for all of the encouragement and positive stories :) I am blessed to have such great support.

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  10. I am going back to the beginning of your blog and reading forward! :) It is so wonderful to read through you and your husbands experience finding out the diagnosis. I feel a little better knowing another family reacted very similar to how we reacted. Of course we were heartbroken, but then after praying and soul searching and remembering that both Landon and Mya really Gods an I am just a tool in the life God has for them really helped me come to terms with terms. This is a challenging journey full of blessings and I am so glad you are sharing your journey with everyone! Thank you :)

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  11. I LOVE that her extra chromosome is from God!!! I wish I had met you sooner, but I'm so thankful we have met now. I can't wait to see what God has in store for our girls! :)

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