ONCE UPON A GENE - EPISODE 051 - Truncus Arteriosus - A Rare Form of Congenital Heart Disease with Sonja Voice
Charlotte was born with a rare form of congenital heart disease called truncus arteriousis. After Charlotte was born, her mom, Sonja Voice, found support groups and found the hope she needed to advocate for Charlotte.
EPISODE HIGHLIGHTS
Can you tell us about Charlotte?
My daughter was born at the end of March with a rare diagnosis, truncus arteriousis. I traveled from my home in Seattle to Boston to deliver Charlotte so she could receive an immediate heart surgery at two days old.
When did you find out that Charlotte had a form of congenital heart disease?
Charlotte was my first pregnancy, which was a typical pregnancy up until about 20 weeks. I went to an ultrasound appointment and they couldn't see the heart very well. At about 24 weeks pregnant, I went back for another ultrasound and they looked at the heart for a long time. I got a call from the doctor after she reviewed the ultrasound results and she told me to bring someone with me to discuss things further. I learned Charlotte had a hole in her heart and that I needed to meet with a specialist and seriously consider all of my options. I was given a fearful message, not one of hope. Two days later, another ultrasound confirmed what was wrong, and I was told that Charlotte had truncus arteriousis, where the pulmonary valve and aorta valve that don't separate. She needs a donor organ valve and will need a lifetime of open heart surgeries.
When you were given the options of surgery, terminating the pregnancy or doing nothing, did you know right away what you were going to do?
I asked about the termination process. I felt like I couldn't win and felt guilty. I couldn't come to terms with how it happened. Once I realized what termination entailed, I decided quickly that I wasn't going in that direction. My husband reminded me that this was our daughter and we needed to give her a chance. So we decided we needed to find a place that was experienced in the surgeries we needed and we re-located to Boston.
How were you able to advocate, even when you were still pregnant with Charlotte?
A couple friends had prenatal diagnoses for different conditions and their stories really empowered and informed me. I wish I had known how important ultrasound was. There's a lot of in utero surgeries they can do for prenatal conditions. I had an amniocentesis and realized that it's a great way to ensure you're setting your child up for a successful birth and ensuring you have the right specialists in place at birth.
How is Charlotte doing and how is her development?
She is doing so good. She's starting to talk. Her next surgery will be between 9 months and 10 years old. We've been working with Child Strive and she gets a round of services including early intervention, physical therapy and occupational therapy. We're looking forward to getting Charlotte a tongue and lip tie cut that they wouldn't touch when she was prepping for heart surgery because of an infection risk. Overall, she's doing really well.
LINKS AND RESOURCES MENTIONED
EPISODE 038 - Rare Like Us with Taylor Kane
EPISODE 040 - Physical and Emotional Well-Being for the Caregiver with Tyra Skibington
Loving What Is: Four Questions That Can Change Your Life
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