Our journey with congenital heart defects began when I was a senior in veterinary school and 16 weeks pregnant. A routine test detected a possible abnormality, so an ultrasound was performed. After much staring at the screen and then having the maternal-fetal medicine specialist come in, we received the news that our first baby had Tricuspid Atresia, a congenital heart defect. While working through my senior year, we navigated meeting a pediatric cardiothoracic surgeon to plan his birth and medical future. Ryan was born on February 28, 1995 at 21 inches and 6 lbs. and had his first procedure the next day.
Over the next 5 years, he underwent 4 open heart surgeries, multiple cardiac catheterizations, procedures, and hospitalizations for pneumonia. He had his last surgery, the Fontan, to fully correct his defect in 2000. Thankfully, while functioning with just the left side of his heart, he has been healthy and is down to cardiology check-ups every other year. He was followed by two sisters and a brother, all heart-healthy.
While going through this journey we looked for how we can help others who were experiencing this issue and found The Children’s Heart Foundation. The Foundation was created by Betsy Peterson after the death of her son Sam from a congenital heart defect. The mission is to fund the most promising research to advance the diagnosis, treatment and prevention of congenital heart defects. To date, CHF has funded over $8M in research. Our commitment to the organization began as volunteers, then my husband became a board member and is now the Executive Director.
We have both committed our family to working with this organization to help prevent children in the future from being born with heart defects and to help the children that have survived and are now adults living with congenital heart defects.
About The Children’s Heart Foundation (CHF)
The mission of The Children’s Heart Foundation (CHF) is to fund the most promising research to advance the diagnosis, treatment, and prevention of congenital heart defects. Congenital heart defects (CHDs) are America’s #1 birth defect – affecting nearly 40,000 babies a year. Since 1996, CHF has funded over $8 million of research.
Today, more infants with CHDs survive to adulthood because of advancements made through research. However, despite the progress made in understanding and treating CHDs, more work is needed to determine the cause and best treatment options.
The Impact of Research:
Hypoplastic left heart syndrome (HLHS) is a rare and life-threatening CHD. While HLHS was once lethal, a three-staged surgical procedure has dramatically improved survival. However, despite improvements in clinical care, little is known of the cause of HLHS.
In 2015, CHF funded a research project called “Genetic Underpinnings of Isolated Hypoplastic Left Heart” by Lisa Martin, PhD and D. Woodrow Benson, PhD at Children’s Hospital of Cincinnati.
What the Research Means: “HLHS recurs in families and some relatives have other types of congenital heart malformation. Previous studies showed that HLHS is determined largely by genetic factors. Based on familial inheritance, it has been speculated that HLHS is a recessive form (2 abnormal gene copies) of cardiac malformation, with heterozygotes (one abnormal gene copy) exhibiting less severe malformations. In this case, it would be expected that children with HLHS would frequently have first degree relatives (parents or siblings) with congenital heart malformations.
However, in echocardiographic studies of families, it found other congenital heart malformations in only 40% of other family members. Since the impact of each of these mechanisms on recurrence risk is dramatically different, determining the underlying genetic cause is essential for improved risk prediction. CHF’s long-term goal is to lessen the impact of HLHS on patients and their families by expanding our knowledge of underlying cause – an essential step to improving risk prediction.”
Meet Drew – Another CDH Success Story
Drew, who recently celebrated his 21st birthday, was born with HLHS. He has had three open-heart surgeries and six cardiac catheterizations. Drew’s aunt was also born with HLHS. However, 45 years ago there were no treatment options and she passed away when she was only three days old. Today, because of advancements made through research, more infants with CHD survive to adulthood, like Drew.
This research has a special meaning to Drew and his family, along with other families facing the challenges of HLHS.
Please check out The Children’s Heart Foundation’s website here.
Dr. Megan Foley is an emergency doctor in VSC’s Emergency and Critical Care department. She is also a Certified Hospice Palliative Veterinarian.