Allie’s Story- Down Syndrome Diagnosis (18 months after birth)

Our story is probably quite different than most. We did not find out that Allie had Down Syndrome until she was 18 months old.

Of our 3 children Allie is the only one that I was not considered “advanced maternal age”. We chose not to have any testing done for several reasons. First- we would not have considered termination if we found out there were any issues. Second- I had heard of too many people who had false positives and spent their pregnancy worrying. I wanted to enjoy every minute of being pregnant.  And third- I really never thought it would happen.

Allie was a stubborn girl from the start. I was induced at 42 weeks. The induction took 2 days.  When she was finally ready to arrive, she got stuck. She had shoulder dystocia. One minute my doctor is telling me to push as hard as I can and the next minute a nurse was on top of me trying to help push Allie out. The rest was a blur. I did find out it was a girl and she had a ton of black hair. She was taken to the ” level 2″ nursery as she wasn’t keeping her oxygen levels quite high enough. Other than that- clean bill of health.  She only had to stay one extra day and we all went home excited as can be to start our new life with our Allison Emma.

Allie was eating like a champ. Hitting milestones. She rolled over by 3 months, sat up by 6 months but crawling did come a bit later than ” usual”.   At her 6 month check up her pediatrician said that she heard a possible heart murmur and was going to refer us to a pediatric cardiologist. He confirmed she had a VSD. The plan was to watch it for awhile to see if it would close on its own.

By about 10 months I noticed that Allie wasn’t pointing a whole lot and she really wasn’t “talking” much. I would be lying if I said I never secretly wondered if there was something more going on and I did even wonder about Down Syndrome. But honestly, all I could see was my super smiley beautiful girl!  She was silly, strong, opinionated and my perfect little girl.

Up to this point, none of her doctors ever suggested to us that there might be an issue.

At her 18 month check up she still was not walking, so her pediatrician suggested having Birth to 3 visit and see if they thought she needed therapy.

I will never forget this day.

The woman walked in, observed Allie for maybe 3 minutes and asked me if she had ever been tested for any “Syndromes”. I look at her with tears in my eyes and asked her if she thought Allie had Down Syndrome. She looked at me and while shaking her head yes, she said ” no, I’m not here to diagnose anything, just to suggest possible testing.” 

 I wanted nothing more than to get her out of my house. I just wanted her gone!  After she left I went on the internet and searched for everything I could on features and medical issues of children with Down Syndrome.  At that moment I knew Allie had Down Syndrome.  I tried to convince myself otherwise, but deep down, I knew. I called her pediatrician and asked if we could bring her in to have blood drawn for a Chromosome Analysis.  2 weeks later we received confirmation that she indeed had Trisomy 21.

Looking back I felt like we were fortunate to have known our daughter and what she was capable of and everything she had already accomplished prior to her diagnosis.  We weren’t scared. She was the same little girl as she was the day before we found out.

Not that we didn’t cry and mourn the change in the path we were going down, but we didn’t have the fear of the unknown. She had been with us all along.

One thing I did wonder was if people thought we were completely ignorant or dumb for not knowing for that long. I wonder if people reading this right now are thinking ” seriously, how could you not know?” When I looked at Allie prior to knowing I never saw anything but my beautiful girl. Now when I look back at pictures I see that little extra that I didn’t see back then.  Extra love, extra special, extra awesome, extra chromosome!