Girl Born With Rare Heart Defect Achieves New Milestones After Heart Transplant

One of Emma Detwiler’s favorite things to do is meet new friends. Whether she’s dancing, riding her bike or gliding by on her rollerblades, the outgoing 6 year old is always on the move and striking up conversations. Looking at her now, it’s hard to believe there was a time it was unclear if she would have the ability to do any of these things because of a congenital heart condition.

“At one point, we were told she might not walk, talk or even be able to breathe on her own. But now she’s doing all of it,” says Cara Detwiler, Emma’s mom.

Cara recalls she was around 20 weeks gestation when she went in for an ultrasound and found out Emma had a rare heart defect. It came as a shock as no one in the family had dealt with anything like this before.

“Emma was born with pulmonary atresia with an intact ventricular septum, so the right side of her heart did not develop,” says Gerard Boyle, MD, the medical director of Pediatric Heart Failure and Transplant Services at Cleveland Clinic Children’s.

Knowing her condition, Cara delivered Emma in the Special Delivery Unit. They were only able to spend a few moments with her before she was admitted to the Pediatric Intensive Care Unit. Emma had her first heart operation at 3 days old. However, due to the condition of her heart, her care team discussed with Emma’s parents she would ultimately need a heart transplant to survive.

"She was listed as the most urgent status on the transplant waiting list. We were terrified, but I refused to believe this is where her story would end,” says Cara.

Working with pediatric and congenital heart surgeon Hani Najm, MD, Emma was the first pediatric patient at Cleveland Clinic to be placed on a pediatric extracorporeal continuous flow device, which helped keep her blood circulating while she waited for a transplant. As Emma experienced additional complications due to a blood clotting disorder, her family eagerly awaited the call that a heart was available.

“We kept redecorating her hospital room for every holiday, thinking one of them would bring us luck. We had just redecorated for Valentine’s Day, and it was two days before the holiday, on February 12, we found out a heart was available,” says Cara.

After undergoing a successful heart transplant in 2017, Emma still had a long road to recovery. She experienced acute liver failure as well as kidney failure. She also had to undergo a tracheostomy to help her breathe. But after spending nearly the entire first year of her life in the hospital, she was eventually able to come home.

“This was the first time she'd ever seen our house, and the first time we all spent together as a family outside of the hospital. It really was miraculous. We were grateful to have her home,” says Cara.

Emma’s family had to keep a close eye on her as she was still dependent on a ventilator and tube feeding. Meanwhile, she underwent therapy to slowly build up her strength. Cara recalls Emma barely being able to hold up her head around 1 year old when she first came home, but by her second birthday, she was starting to walk.

“She had walkers, standers – all these devices to help build her strength up. And then it was like she started walking all of a sudden. She went from walking to running almost immediately,” says Cara.

When Emma turned 3 years old, she marked another milestone. She was able to get her tracheostomy tube removed and otolaryngologist Brandon Hopkins, MD, reconstructed her airway. Emma also no longer needed a ventilator to breathe. A few months later, Cara and Emma’s dad, Sean, were able to hear their daughter laugh. Shortly after, she started talking.

“Emma went from being completely nonverbal to where she is now, where you can't stop her from talking. She talks all day long. It's amazing,” says Cara. “She’s doing all these things we were told could be unlikely to happen.”

Dr. Boyle says, “Knowing what Emma had to overcome, I would not have expected her to be the child she is today. She is a really delightful 6 year old, and if you didn't see her scars, if you didn't know her history, you wouldn't know she had been through any of this.”

Emma is now attending school and continues making progress with her feeding therapy. She’s been learning to eat by mouth and is decreasing her reliance on receiving nutrients through tube feeding. Her vibrant voice can be heard in the hallway, calling people “snookums” and sweetheart. Cara says she’s very into nicknames. As for her favorite thing about school, she’ll simply say, “Playground!”

Emma’s care team will continue to closely monitor her over the years, and although she still sees multiple specialists at Cleveland Clinic Children’s, her appointments are getting less frequent.

“From a heart standpoint, she's now far enough out from her transplant that we have high hopes for a very, long healthy life,” says Dr. Boyle.

As for Emma, she’s looking forward to plenty of dancing, movie nights with her friends and spending time with her older brother, Liam. Her close-knit family means a lot to her. If you ask her what makes her special, she’ll say, “Because my mommy and daddy love me.”