Down Syndrome Diagnosis

The most common question Vong and I have been getting asked is "did you have any idea before he was born that he would be Down Syndrome?" Let's rewind to when I was about 17 weeks pregnant. Our doctor offered us a quad screen [a test that screens for abnormalities in the fetus, such as Down Syndrome and also Spina Bifida] I personally didn't care to get this test because it made no difference to me if our baby did have one of these disorders, but Vong thought it was mandatory [rookie first time parent problems, lol] and he also wanted to know if something was "wrong" [I hate using that word] with our baby before he was born so we could be prepared. The test results came back pretty quickly, only a couple of days since it was just a simple blood test. I got a call from my doctor's office on a friday afternoon while I was at my salon. While my client's hair was processing I gave them a call back and I just had a pit in my stomach the whole time. The nurse told me that my quad screen had come back at a higher risk for Down Syndrome. I immediately started crying thinking that it was a for sure diagnosis. The nurse assured me not to worry too much because the quad screen has a pretty high false positive rate. How could I not worry?! She told me that the next step was to meet with a genetic counselor and we could talk about doing further testing to confirm if our baby did indeed have DS. I hung up with her and called Vong at work...bawling hysterically..he thought someone had died! I blame the pregnancy hormones. He told me to calm down, and that we weren't even positive that he had down syndrome.

I went back to my client, and luckily she is a good friend, she is in my ward, and she was also pregnant at the time so she understood the hormones! [Thanks Ashley :)] I decided to cancel the rest of my clients for the day because I just couldn't stop thinking about it, and worrying about my baby. I went home and googled Down Syndrome... worst...idea..ever! I started reading about how a certain percent of babies with Down Syndrome will die before they are 1....How a majority of babies with DS are born with heart complications...how even if they do live past one a good percentage of them die before 40....all this translated in my mind as my little precious baby will most likely leave this earth before I do..and that was just too much for me to handle. I think I cried on my couch for 3 hours straight until Vong got home from work. He calmed me down and told me that even if our baby was Down Syndrome it wouldn't matter...he would just be our little Downy Bear [I hope I don't offend anyone by saying that but it is a total term of endearment for us, and we started referring to him as our little Downy Bear from that point on, and it always made me smile when I would think about it] We then started reading more about the quad screen and how there are so many false positives.

That next Tuesday I was able to get in contact with the Genetic counselor up at the U of U. I spoke with her on the phone because I was still having so much anxiety about the possibility of our baby having DS. She looked at my test results and told me that basically we had a 4% chance that our baby was DS. That made me feel so much better! At that point we decided not to do any more testing, because an amniocentesis had a risk of miscarriage, and it wasn't like we were going to abort our baby if he had DS anyways.

Later that week we went in for our Anatomy/formal ultrasound. Everything looked great! Mr. Roman was growing just as he should be, he had all of his fingers and toes...His heart looked great had all of the chambers....or so we thought! [More to come on his heart diagnosis in the next post] so we were confident that our baby was just fine, and we were mostly concerned with all of his vital organs so it really put our mind at ease that everything looked good. We decided not to really tell anyone about the possible diagnosis because we didn't want everyone worrying about it until we knew for sure.

The next couple of weeks were a definite growing experience for me personally. Even though everything had went well on our ultrasound, I still had this little nagging in the back of my mind that maybe Roman still could be Down Syndrome. I was working part time at The Kura Door, and all of a sudden I kept having clients come in and we would start talking, and they would some how bring up their kids..and I had about 3 clients in 1 week that all had a child with Down Syndrome...and they would tell me just how special they were, and how much love and happiness they brought to their families. I also had the head of the Genetic Counseling center at the U as one of my clients that same week. Coincidence? I think not. I know my Heavenly Father was trying to prepare me...of course at the time I was trying to deny those feelings.

At my next doctors appointment my wonderful doctor told us that if we didn't want to get more testing it was completely up to us! She would just keep measuring my uterus each week and as long as it was on track growth wise, we wouldn't do anything extra. It can be common for Down Syndrome babies to slow down in growth towards the end of pregnancy, so if my uterus was getting behind she said we would do more ultrasounds, and also keep a closer eye on his heart, because they can have heart complications as well.

Fast forward to birth of sweet baby Roman. He was so teeny tiny. Only 3 lb. 7 oz. I was only a week and a half early so there was a lot of concern with his size! With my abnormal quad screen showing a high risk for DS they immediately drew his blood to do a Chromosomal analysis. [Side note: When they first brought Roman over to me I whispered to Vong..."is he Down Syndrome?!" I was really drugged at the time haha but I obviously was anxiously waiting to know what the future had in store for my sweet little boy] We didn't get the results back and get a for sure confirmation that he was DS until Friday [3 days after birth] but Vong and I already knew from the first day :) I'll be completely honest I am terrified of the long road we have ahead with our sweet boy. But we have seen so many miracles already and we can see the hand of the Lord blessing our baby every single day. I'm not sure why our Heavenly Father thinks we deserve such a gift as our perfect Roman, but I am so grateful to know that he has sent us one of his most precious children. I'm so thankful that he trusts us to raise him in this earthly life. He has already brought our families so much joy and he is loved by so many people already, we are so blessed!

Very First time Holding him for 1 min
before they took him to the NICU

Finally seeing him after more than 12 hours :)