Prenatal diagnosis sets James up for success

james-tetralogy-of-fallotI remember it like yesterday. Pregnant with my first child, I went to my 9-week scheduled ultrasound not really knowing what to expect. I heard a little baby’s heartbeat in my belly! I was blown away.

When you go for your 18-week ultrasound, make sure your baby’s heart is checked. A simple scan can change everything. ~ Elizabeth

At the 18-week scan, it appeared that the baby only had one kidney. The doctor seemed to think that everything else was normal, but he told me I had the option to make an appointment at Boston Children’s Hospital for a fetal echocardiogram. My husband had to work that day, so my mother came with me. I truly was not concerned.

Little did I know that my life was about to change forever, and all because of a simple scan that I almost didn’t receive.


Video: Learn what to ask at your 18- to 22-week ultrasound to make sure your baby’s heart is healthy.

James was diagnosed with tetralogy of Fallot with pulmonary atresia at 18 weeks gestation. My husband and I entered into a scary and heartbreaking world we never imagined.

Because of that test, we had time to do research and connect with other families who had already been through the same thing.

Because of that test, James was delivered in the best place possible, just down the hall from the Heart Center at Boston Children’s Hospital where he could get the medical attention he desperately needed.

Because of that test, James was given the best chance at life.

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James has since been diagnosed with Nager syndrome, a rare condition characterized by craniofacial anomalies. As a parent, it’s hard to watch your son struggle with certain things, but I can tell you it is also breathtaking to see him hit milestones, play sports and just run around with his peers.

Last night, Jimmy Kimmel announced that his son Billy was born with the exact congenital heart defect that James has — tetralogy of Fallot (TOF) with pulmonary atresia. Billy was diagnosed shortly after birth. I can’t even imagine how much more difficult our journey would have been if we had delivered James without a fetal diagnosis.

It was so brave of Jimmy to put himself out there while his feelings are still so raw. Having a child with a congenital heart defect is unexplainable, and to have a man who is typically known to be funny put such a serious issue out there is a huge step forward. Thank you, Jimmy, from CHD families everywhere for bringing awareness to our babies’ conditions and for highlighting the emotional anguish and financial burden that are part of our journey.

We were so fortunate to know of James’ heart defect before he was born. I looked at that echocardiogram as life-changing, but I was wrong. It was live-saving.

tetralogy-of-fallot-pulmonary-atresia

About the blogger: Elizabeth Swift is mom to two boys, James (7) and William (3). James has been cared for since birth by Dr. Francis Fynn-Thompson and Dr. Andrew Powell of the Heart Center at Boston Children’s Hospital.

Explore bostonchildrens.org/fetalheart for more information and resources.