Friday, October 1, 2010

31 for T21: Did You Know Reid Had Down Syndrome Before He Was Born?

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Today, October 1st marks the first day of Down Syndrome Awareness Month. Before Reid was born October only meant Fall had arrived and I could look forward to "cutesie pie" trick or treaters showing up on my doorstep. But, now October has another meaning for me. In an effort to help bring awareness to Down syndrome I am joining many other Ds bloggers in an effort to blog all 31 days in honor of my son's extra 21st chromosome (Trisomy 21).... 31 for T21.

I decided to start my first post with a question we have received quite a bit....

"Did you know Reid had Down syndrome before he was born?". The short answer is "Not-so-much", but the more accurate answer is this.....

We started our pregnancy with twins. We were excited and yet developed a nervous twitch at the same time over the news....however between 10 and 11 weeks we lost one of the twins. A few weeks later we went for our AFP (Alpha-Fetoprotein) screening, which is an early detection for certain genetic abnormalities. The Dr. called to tell us that my test came back positive giving me a 1 in 12 chance of having a child with Down syndrome. He also informed me that it is common to have a "false positive" so he suggested we also go have an in depth ultrasound to rule out any hard markers for Down syndrome...and there was one. Reid's nuchal fold measured thicker than average on the back of the neck which is considered a possible hard marker. However they also checked other possible indicators common in Down syndrome and they didn't find anything.

However, given that we had an elevated (positive) AFP result and the issue with the nuchal fold it was suggested we have an amniocentesis. Without going too far into history we had a very difficult time getting pregnant after Luke so the idea of having an amniocentesis which has a 2% chance of causing a miscarriage afterwards, did not sit well with us so we declined.

We declined the amnio for 2 we did not want to risk loosing this baby but we also declined it because even if our baby did indeed have Down syndrome he was our son and we wanted him.

We wanted him no matter what....but my mind never really let me to go to the place of "What if he
does have it?" because I really didn't think we were that 1 out of our 1 in 12 chances...and honestly even in those odds the odds were still in my favor, at least that's how my brain processed it. I did not do any research, I did not obsess ....I enjoyed my pregnancy to the fullest!

My doctor would bring me back to reality though from time to time when I had an appointment and he would broach the subject again. It kind of irked me a bit because this baby was not going to have Down syndrome so I didn't want to have to think about it. He suggested I have another in depth ultrasound which I believe was now at about the 25th week of gestation to check Reid's heart. He shared with me that many babies with Down syndrome also have a congenital heart defect so he wanted me to be checked again, "just to be safe".

I abided and went across the street from his office for another ultrasound. This time they had the neonatologist of all neonatologist looking in on the screening.....and the nuchal fold was now measuring just the right size, not too thick like the last ultrasound. I sighed a bit of relief and mentally checked that marker off the list. They then spent 45 minutes going over his heart which looked just fine at the time. Really quite irked by the whole "scare" I asked the neonatologist if my AFP numbers could of been thrown off because of the miscarriage....maybe the twin that didn't make it had Down syndrome or some other chromosomal defect and maybe that's what gave me the positive test and he actually agreed that this could be a possibility. We continued to check little Reid on the monitor screen and the Dr. looked at me and said, "I cannot promise you anything but as I look at this little guy...he is strong and healthy and I really don't think you are "the one"....meaning the 1 in the 1 in 12.

I didn't think so either so I scooted off the table, got dressed, and headed home to enjoy the rest of my pregnancy.... not knowing that my life was about to change.

....more about that in tomorrow's post.

***the ultrasound picture is of Reid and it looked like he was waving so the tech typed in, "Hi, to my brother Luke" in the picture. Luke was at that appointment with me and it made him smile from ear to ear. We framed it and put it in Luke's room where it remains today!

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Mel said...

Funny how things work out for the best isn't it? We didn't know and declined the specific scan but had 3 others which showed nothing, including missing his heart issue.
Looking forward to the next installment :)

Mel said...

ps love Luke having the scan pic in his room. What an awesome big brother!

Emily Simmons said...

So intrigued by your story. Can't wait for tomorrow!

Tara said...

Your story sounds a lot like mine. Our odds were 1:20 based on age and a marker on the level 2. I was convinced, however, for about 2 weeks that he had Ds, then I got over it and enjoyed my pregnancy. :) In hindsight, I am so grateful I didn't know for sure. The news was so much easier to take when holding my perfect little guy!

Philip May said...

Wow, I am impressed by your ability to say "not my child" and truly not worry about it. We were just the opposite. When they found some of the markers, we had to know. There was no way I could be distracted by this uncertainty. Our stories are here (wife's)

and here (husband's)

can't wait to read your next installment.


Nan P. said...

Like for Mel, Cathal’s diagnostic was not seen at all pre-birth.

I love the fact that Luke still has that picture: shows the bound between them.