Liver Care Center
Evan and Alagille Syndrome

Evan Defies Alagille Syndrome to Write His Own Story

Diagnosed as a baby with Alagille syndrome, Evan faced numerous health conditions as a child and adolescent. But thanks to the coordinated care he received at Cincinnati Children’s, he’s now planning a career in music production. 

Evan catalogues his childhood based on what was going on with his health at the time. Open-heart surgery when he was an infant. A broken shin bone at age 4. Liver transplant at age 6. 

Then, in grade school, the beginning of food allergies and a diagnosis of eosinophilic esophagitis (EoE), an allergic condition that causes inflammation of the esophagus, which can lead to gagging and choking on food.

Second grade marked hip pain and the discovery of Legg-Calvé-Perthes Disease (LCPD), a condition that causes the bone in the hip joint to break down. That involved several surgeries and an external fixator, or ex fix, attached to the outside of his right hip. “My mom or dad would take an Allen wrench and tighten it a little bit every day,” Evan recalled.

Second grade was also the year Evan started using a wheelchair to get around.

Next up was navigating foods to avoid due to allergies. “We figured out I was allergic to milk pretty early on, so we switched to soy, but then a few years later, we learned I was actually allergic to soy, too,” Evan said.

Seventh grade brought a diagnosis of LCPD in Evan’s left hip and accompanying surgeries to restore blood flow and insert a rod and screws.

By eighth grade and his freshman year of high school, Evan had developed kidney issues. “Just to add on to it all,” he said with a smile.

Although he can look back now and laugh (a little) at everything he’s overcome, Evan, now 22, said it wasn’t until college that he realized his childhood wasn’t a normal one. “When I was going through it, it didn’t really affect me,” he said. “It was all I knew.”

One Culprit: Alagille Syndrome

All of Evan’s health issues can be traced to a single diagnosis: Alagille syndrome. Alagille is a rare, genetic disorder that impacts the liver, but often affects other organs, too, like the heart, bones and kidneys. Although it’s primarily considered a liver disease, Alagille is actually a multisystem disorder that can affect the blood vessels and cause vascular abnormalities, as well.

Initially, Evan’s doctor near his home in Indiana diagnosed him with biliary atresia, a rare disease of the liver and bile ducts that affects infants. Evan’s mom, however, a teacher, wasn’t convinced it was the right diagnosis and searched for a hospital with pediatric liver expertise. She found it at Cincinnati Children’s.

William Balistreri, MD, director emeritus of the Pediatric Liver Care Center at Cincinnati Children’s, and his gastroenterology team made the Alagille diagnosis based on the clinical criteria for the syndrome, including Evan’s related medical issues.

Dr. Balistreri brought in specialists from across Cincinnati Children’s to help meet Evan’s needs as they developed, including nephrology to monitor his chronic kidney disease and cardiology to manage his congenital heart condition, tetralogy of Fallot (TOF), a combination of four related heart defects that commonly occur together—and commonly alongside Alagille.

“The coordination of care we’ve been able to provide Evan, as a child and as an adolescent and, now, as an adult, has helped him get to a point where there’s really nothing he can’t do,” said Evan’s cardiologist,  Russel Hirsch, MD, director of pulmonary hypertension service at Cincinnati Children’s.

Dr. Balistreri has known Evan for a long time, ever since he took over Evan’s care more than 20 years ago. 

He gives massive credit to Evan's parents for their unrelenting pursuit of care for their son. And what has always struck him most about Evan is his resilience over the years.

“Evan has developed significant coping skills,” Dr. Balistreri said. “He’s adapted to everything, and he’s been very inspiring to me. You can see it in his eyes, this sentiment of ‘I’m going to deal with this. Nothing’s going to stop me.’”

Setting Goals

Since he can remember, Evan has loved two things: video games and music. In grade school, he started learning to play the guitar. In sixth grade, he played percussion in his school’s concert band. When he was in the eighth grade and as a freshman, Evan played in the jazz band. Then, sophomore year, he joined his school’s marching band, playing bass guitar.

“It was a goal of mine to march by the fall of my junior year,” he said. “I just wanted to experience marching in the marching band.” 

But sophomore year also brought some health challenges. Evan had to have several corrective surgeries on both of his legs, where his bones had started to bow due to LCPD. Still, Evan had set another goal for himself—to travel to New York City at the end of the school year with the marching band and stand to play the bass drum.

“We played a few songs at the Statue of Liberty,” he said. “I took my walker there, stood up and hit the bass drum.”

Evan kept pushing himself, attending physical therapy appointments for up to an hour a day. “Having a goal to work for gave me a renewed vigor to put in the effort,” he said.

Finally, that fall, Evan was able to march. “There was still a question as to whether I’d actually be able to do it, so I’ll never forget the realization that I’d actually met my goal,” he said.

Soon after, Evan decided he wanted to study music. He enrolled at Ball State University in Indiana for college and plans to graduate this spring with a bachelor’s degree in music media production and a concentration in game and media sound design. This fall, he hopes to start his master’s degree in music engineering technology at the University of Miami in Florida. (His biggest concern about going to school so far away from home is that he’s going to have to start cooking for himself.)

Evan’s ultimate career goal is to work at a recording studio making music, or for a video game development team making video games.

Setting goals for himself has kept Evan going, and he wants others with Alagille to know that they can—and should—set goals, too.

“I hope people realize that an Alagille diagnosis isn’t the end of their story,” he said, adding that one of his favorite quotes is a line from Randy Pausch, a professor at Carnegie Mellon University who wrote the now famous “The Last Lecture” after he was diagnosed with pancreatic cancer. “The quote is, ‘We cannot change the cards we are dealt, just how we play the hand.’

“That’s always had a big impact on me, the idea that it’s up to you to make your life what you want it to be, regardless of any diagnosis or ailment.”

(Published January 2025)