It has been fitting that Isabelle was born on Saint Patrick’s Day. It was lucky that we saw the hole in her heart at the 24-week ultrasound. It was lucky we still moved forward with an amniocentesis test after being given the good news that the hole would close on its own after birth. It was lucky we caught what was really wrong when we did; otherwise, we could have lost her before we even knew what happened.

At 26 weeks gestation, our baby Isabelle was diagnosed with Long QT Syndrome Type 16 combined with Calm3 mutation. This is an extremely rare heart condition. Only 12 people have been recorded with Type 16 and she is the fourth person with the Calm3 mutation.

What this means is that Isabelle’s heart rhythm can’t regulate itself correctly. She is at increased risk of childhood cardiac arrest, arrhythmias, seizures, and SIDs.

The doctors stressed to us that this condition can only ever be managed, never cured. She could still live a normal, healthy life with the right monitoring and medication. While it was all a shock, we now were able to prepare and work with her doctors to give her everything she needed the second she was born.

Isabelle was sent to the NICU minutes after she was born. Daily EKGs, beta blockers, and 24/7 monitoring of her heart rate. After only a few days of being home, we got a call from her doctor that the monitor was picking up a heart rate of 50 BPM and she needed to be administered to the PICU right away. They told us the next day that she would need to receive a pace maker. Something that she was not projected to need until elementary school.

We worked with the amazing team at Connecticut Children’s Medical Center to find the right treatment for Isabelle, just like we prepared for.

Isabelle’s heartbeat is still erratic when she is stressed even with the pace maker and medications which increase her risk of arrhythmias. While she has an external monitor that is on her chest with adhesives her doctors know that a device taped on to her chest is not sustainable long term. The next step is to get her an internal monitor that will keep track of her heart rate for the next four years. Her cardiac team got her on the schedule right away as they don’t want her to go without close watch of her heart and she can get on with normal development without a device stuck to her chest 24/7.

While Isabelle’s father and I both work full-time with a good insurance plan that has thankfully covered a lot it will not cover this procedure as it is considered “elective.” We are moving forward as planned because we want Isabelle to have everything she needs to thrive.

Jonathan and I aren’t the type of people to ask for handouts. We have worked hard to build what we have, but now with two little girls to take care of. We do not want this medical debt hanging over our heads at the start of our life as a family of four, especially since this is just the beginning of Isabelle’s journey.

Any amount would be helpful in taking care of our little girl.