Collins Hawkins’ parents sought a second opinion when their daughter was diagnosed with a heart defect before birth. That second opinion later led them to genetic testing—and answers for Collins, who is now a happy 3-year-old girl who loves going to school and playing with her friends.
When she was 24 weeks pregnant with her first child, Taylor Hawkins received news that no mother wants to hear: Her baby girl had a heart defect. Not only that, but her baby would need heart surgery just days after she was born.
Taylor and her husband, Daniel, live in Louisville, but they decided to get a second opinion at the Cincinnati Children’s Heart Institute. They were relieved to learn that heart surgery could wait.
“We were debating having our baby at Cincinnati Children’s if she was going to need surgery right after birth, but because we could wait, we were able to have her in Louisville near our family,” Taylor said.
Collins was born in August 2019. Three days later, however, she began spitting up frequently and stopped having bowel movements. She was rushed to the operating room. Taylor and Daniel were told Collins had a perforation in her bowel and needed eight inches of her small intestine removed.
After Collins recovered from surgery, Taylor and Daniel took her to a pediatric cardiologist at a local hospital where an echocardiogram showed a heart murmur and other abnormalities. That’s when they sought out Bradley Keller, MD, medical director of the Cincinnati Children’s Greater Louisville and Western Kentucky heart practice.
“We knew she’d had part of her intestine removed, and we knew she had heart issues, but we didn’t know if there was a correlation,” Taylor said. “In the NICU, she’d tested negative for everything.”
Dr. Keller met with the Hawkins family at the Louisville outpatient Cincinnati Children’s heart clinic. There he performed another echocardiogram and noticed a few concerning things, including a heart murmur, a narrowing of the arteries going to the lungs, and a thickening of the aortic valve. By themselves, these abnormalities were fairly common, but what wasn’t as common was the shape of the blood vessel that left the heart from the aortic valve, called the aortic arch. Instead of keeping its normally circular shape throughout, Collins’ arch widened significantly.
Based on these findings, Dr. Keller recommended that Collins have advanced 3D cardiac imaging with an angiogram performed at the main hospital in Cincinnati to better show the size and shape of her blood vessels. Genetic testing was also recommended due to the combination of heart and intestinal issues.
The Cardiology Genetic Counseling team at Cincinnati Children’s found a mutation in Collins’ genes associated with a syndrome called Alagille syndrome, or ALGS, a condition that causes vascular abnormalities consistent with what her imaging tests had shown.
“That was the miracle,” Taylor said. “Having that genetic testing done. If it wasn’t for Dr. Keller, we may have gone a long time without having answers or been able to get Collins the coordinated care she needed.”
Alagille syndrome is a rare genetic disorder that can affect multiple systems in the body, including the heart, liver and kidneys. While the symptoms and severity can vary from person to person, many people with ALGS have heart murmurs, caused by narrow vessels that take blood from the heart to the lungs.
“Once we had the genetic testing results, the question became how to best manage the condition,” Dr. Keller said.
He presented Collins’ case to the Joint Pediatric and Congenital Heart Program case conference. This Joint Heart Program is a collaboration between Cincinnati Children’s and Kentucky Children’s Hospital. The program’s case conference comprises a collaborative team of more than 50 cardiologists, surgeons, interventionists and other experts from both organizations who work together to determine the best treatment for each patient. This could include observation, heart catheterization (a procedure that uses a thin, flexible tube called a catheter to check the coronary arteries) or surgery—or all the above.
The consensus was catheterization to look at and confirm the findings, followed by surgery.
Russel Hirsch, MD, director of pulmonary hypertension service, performed the catheterization in November of 2020. “My goal with that first procedure was mainly to decrease the amount of work the surgeon was going to have to do,” he said. “Because we work as a team in the Heart Institute, I could stop the procedure in real time to let others, including the surgeon, know what I was seeing and my thoughts about how to proceed.
“After the procedure, that coordination of care also allowed me to tell Taylor and Daniel what I did and why I did it,” Dr. Hirsch continued. “I could reassure them that all of Collins’ care team members were on the same page.”
Two months after the catheterization, on Jan. 14, 2021, Collins underwent a five-hour surgery to repair and reduce the size of her aorta, as well as to remove some of the narrowing of her aortic valve and left pulmonary artery.
Collins recovered from surgery well. In fact, this past January, her family helped her celebrate her two-year “heartiversary”—the anniversary of her heart surgery.
Since her surgery, Collins has had three sets of ear tubes, a six-hour procedure to remove an abnormal collection of skin cells deep in the ear, and a second catheterization procedure – all at Cincinnati Children’s.
Still, Collins’ ALGS means she’ll likely need more interventions in the future, which the Hawkinses understand. They’ve transferred all of Collins’ care to Cincinnati Children’s. She sees Dr. Keller every six months in Louisville and goes to the Burnet campus in Cincinnati every six months, as well, to visit the otolaryngology (ENT) and gastroenterology divisions. She also receives physical and occupational therapy.
“Everyone’s always very thorough,” Taylor said. “If we’ve wanted to explore other medications or alternative options, they’re always patient and willing to go the extra mile for Collins.”
Collins will be 4 this August. She also now has a little sister, Camden, who is 1.
“She loves playing with her baby sister,” Taylor said of Collins. “She is truly a fighter, a warrior. She’s ‘Collins Strong.’ Nothing gets her down. She’s one of the most positive people I’ve ever met.”
Collins’ strength and the support of her family is invaluable, Dr. Hirsch said: “It’s worth its weight in gold, to be honest.”
Dr. Keller adds, “Taylor and Daniel want what every parent wants: the best possible care for their child. When you have a complex condition or something that’s rare, it makes a definite difference that you get the best possible team.”
(Published March 2023)
Collins’ family has also experienced other benefits as a result of the genetic testing. Not only was the testing able to identify a diagnosis for Collins’, it also provided answers for her family members.
In this instance, genetic testing in her parents found that the gene mutation was not inherited from either parent. Collins was the first person in her family to have Alagille syndrome, which was caused by a new, or de novo, gene mutation. Genetic testing provided information not only about Collins’ diagnosis, but also important information about her parents and siblings.
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