Down Syndrome and CHD – Our Story

Around August of 2000, I found out I was pregnant. I wasn’t happy or excited about it. The birth of my daughter in 1999 was complicated by a diagnosis of vasa previa, a life-threatening situation for myself and her. She was delivered at 36 weeks after I spent the last trimester on bed rest. She wasn’t ready to breathe on her own yet and had to be ventilated for a few hours.

She remained in NICU for two weeks. We soon began to notice she wasn’t meeting her developmental milestones and we enlisted the services of Early Intervention. She still was not walking when I got the positive pregnancy test, and did not take her first steps until I was about seven months pregnant.

We attended a church with lots of homeschoolers and big families. It was hard to admit to anyone my sadness and sense of being overwhelmed. The few people I did try to share with my feelings with brushed them off with “I should be happy.” I was scared. I never planned on four kids and wondered how I was going to do it.

My pregnancy proceeded uneventfully until it was time for the routine 20-week ultrasound. The technician got that deadpan expression, left the room and brought back someone with her to look at it.

They told me on the spot there were several markers for Down Syndrome and a possible heart defect. I was sent for a level 2 ultrasound. Nothing was found. I was then sent for a fetal echo. Nothing was found. My OB badgered me at every visit to get an amnio. Knowing it was not a risk free procedure, I refused.

I spent the rest of the pregnancy praying that God would not do “that” to us. A few weeks before delivery a friend complained to me about her cleaning lady always bringing her “retarded” sister with her when she cleaned her house. That word rang in my ears for weeks, including on the way down to the hospital for my planned c-section.

My son Nicolas was born May 16, 2001. His almond-shaped eyes were very obvious. The OR was deadly silent and strained. He promptly turned navy blue and was rushed to NICU. Nobody in OR was saying a word. It was like I gave birth to an “it.”  

There were no welcoming baskets or kind words. The neonatologist referred to him as a “Down Syndrome situation.” When I visited him in NICU his fingers and toes were still blue.

The following morning a pediatric cardiologist appeared in my room and explained the nature of his heart defect to me. AV Canal – the simplest way to explain is that it was a giant hole in the middle of his heart. I would have to bring him down to cardiology weekly for them to follow him. I was reeling. I had three kids 9 and under who were homeschooled. I had no family in the area to help.

The shock of the heart defect dwarfed the shock of the Down Syndrome diagnosis. I was having trouble bonding. I am sharing this honestly because I know other parents have gone through this and I want to let them know that these feelings are normal and will change in time. I wondered what kind of future he would have. I thought my life was over.

It was extremely stressful trying to feed him and care for him. The cardiac problem made feeding him very difficult as he was breathing so fast. He never got above his birth weight. About three weeks later Nicolas went into heart failure and Lasix was prescribed.

By July I wasn’t leaving the house and was completely overwhelmed with trying to feed him. I broke down, called the hospital, and told them I just couldn’t do it anymore. He was admitted to the Cardiac Critical Unit that day. I remember staring at that sign for a very long time.

He stayed at the hospital for several weeks until his open heart surgery on August 2, 2001. I felt horrible for not being able to be there around the clock as I had three young children at home but I was comforted that he was greatly loved by the nurses who took care of him.

His surgery went well and I had in-home nursing for about six weeks after he came home. During this time I got on the Internet and saw many pictures of beautiful children who had Down Syndrome. I began to see their humanity and the joy they brought to their families. Initially a reluctant mom, I became transformed into a fierce advocate.

Nicolas is now 12 years old. His heart checks were uneventful for years but suddenly in 2011, he began experiencing seizures that were cardiac in origin. When we got him to the cardiologist his heart rate was down to 25 beats per minute and we were sent directly to All Children’s Hospital in St. Petersburg for a pacemaker.

It was standing room only, three cardiologists and several nurses in his room when we got there. I was also recently diagnosed with cervical dystonia and still struggling with pain management. “How much, Lord…” I frequently wondered.

We’ve had our joys and our challenges. I wanted to be a “Down Syndrome supermom” but with so many other medical challenges with my other kids and myself it has been hard to do everything I wanted to. Nicolas isn’t where I had hoped he would be academically, but he is always learning and growing.

He has a smile that lights up a room and he is always a favorite at school, church and camp. He speaks pretty well and can be quite the wise guy. He is wickedly funny and is often the subject of my Facebook updates. He’s also as stubborn as hell.

Over the years I’ve noticed people with Down Syndrome have a unique way of assessing a situation and speaking the truth about it in a very simple, yet profound way. They are also fun. They’re all about the party and the outfit. Many are phenomenal dancers.

They go to work. They live and they love. Their angels are always close. Those who love and care for them are themselves transformed. That extra chromosome is truly the “love” chromosome.

Yet our society consistently downplays the contributions these beautiful souls can make. Inclusion in schools and churches continues to be a battle. Invitations are few and far between.

It can take years to get the support and services needed. Horrible Down Syndrome jokes and “retard” slurs still abound on the internet. Jobs and the question of who will look out for them when we are gone are heavily on the minds of every parent.

But we won’t stop fighting the good fight. My hope for this blog is to join the rising tide of parents who are proud of their kids and are using social media to increase awareness and acceptance of our very special children.