Diagnosis

Statistics was one of my favorite classes- I loved being able to rely on the numbers when looking at elections or opinion polls. So let's take a look at the statistics.

At 13 weeks, I did a test called nuchal transluceny. It tests for two things- chromosomal issues with the baby such as DiGeorge or Down syndrome. It also tests for any major heart conditions. We left with a 1 in 50,000 chance for Down as we were told and no heart issues detected. It is 99.5% accurate. The test was done at a specialist in the INOVA system here in Virginia. (Alex first quipped..well someone's gotta be that .5%. Oh indeed.)

From the first trimester forward, I had an ultrasound done almost every 2 weeks and then every week starting in the third trimester. I think all together, at least 20 scans. I additionally did scans at two different high risk specialists at two different hospitals, several times. Why all the scans? Because of my diabetes, the biggest concern was to make sure the baby did not get too big. Towards the end of the pregnancy, 34 weeks, Liam's cord pressure began acting up which got me sent to the specialist several times as well. From 16 weeks forward, his diagnosis would have been visible on every ultrasound. Additionally, those cord pressure issues were directly related to his diagnosis and was missed by 2 different hospitals.

So, the actual roller coaster. When the NICU doctor walked in a mere 8 hours after we had delivered Liam, we were told that his oxygen levels were back to a good place and he no longer needed to be on it. My immediate reaction was to ask if we could bring him back to our room. He shook his head no.

Then, with a half smile on this face, he said " I also wanted to let you know that your son has a strong heart murmur and it's possible it may need surgery to fix it, depending on what a cardiologist can find. Oh, and we are pretty confident he has Down syndrome."

I was holding Liam and all I could do was stare at him. He was small, 2 lbs smaller than what was seen on the last ultrasound 24 hours before we delivered, but he seemed healthy and in fact, was moving a bit and looking around already. I began to cry and couldn't stop. I was scared of both diagnosis' to be honest and it's not meant to be offensive to anyone with or raising a child with Down syndrome. I know the dedication and the lifetime commitment it takes- my uncle has Down syndrome and my grandmother and aunts have all treated him like a king and put him first. It was never easy and I just didn't think it was a strength we had at that point.

Alex and I went back to my room when Liam was going back in the incubator to sleep. We were emotional but we also tried to make a deal with God- can we just have 1 and not both? Both together seemed so damn overwhelming. It then took 12 hours for a cardiologist to visit Liam and run his tests, do an echo on him, etc. It was one of the longest days of our lives. In the meantime, I had asked Alex to call my Mom because I didn't know what else to do. I also knew I couldn't tell her myself without breaking down. She immediately left her office 4 hours away and drove to the hospital. I spent most of that time that day blaming myself, and the next week or so after wards doing the same. I am now tearing up writing this because in hindsight, I was in a dark place inside my head and heart, but I know so much more now.

The cardiologist confirmed that Liam had two heart defects, comprising of up to 6 repairs. He would need serious open heart surgery, perhaps immediately depending if he remained stable. If he was stable, it could be 6 months at the maximum. The doctors took blood and the Down results wouldn't be back for several days, perhaps up to a week.

Thankfully, since the original diagnosis, the three top pediatric heart surgeons in the country and another cardiologist confirmed it is only one major heart defect, bringing the repair total down to 3 issues. While this still means open heart surgery, it was a less difficult and tricky one as we have been reassured. More on the surgery in future posts.

Liam does have Down syndrome but to be honest, our main concern and focus is the heart surgery. There is so much advancement in raising and helping children thrive with Down syndrome it has been pushed to the back of our minds in some sense. We have already talked and met with a geneticist, who confirmed it was not because either one of us were carriers and that makes it easier for us to think of providing Liam with siblings down the road. Our main focus for the next year will be getting him through surgery and recovery.

More statistics to share that we have learned over the last 3 weeks.

We had a average risk of my maternal age of 1 out of 700 for Down syndrome.

1 out of 100 babies are born with a heart defect.

Liam officially has tetralogy of fallot, and it occurs between the 5-8th week of pregnancy when the heart develops. Like Down syndrome, it is sporadic and no links to us or genes.

Tetralogy makes up 9% of all defects, and occurs in about 2 out of every 10,000 births. It is much more common with children who have Down syndrome.

We consider ourselves lucky and thankful for this beautiful little boy. The odds have been against him since conception and he has thrived. In addition to family and their immediate support, research into surgeons, and their congratulations, because you know what, having a child is a celebration no matter the challenge God may present to you, our friends were amazing. Alex's office sent us a beautiful bouquet and teddy bear, we have friends who we called and let us cry to and talked us through those first few days of the unknown. Thank you- you know who you are. We love you all.