Riley loves to wrestle with his best friend, Ladybug—a Chipin who weighs in at 10 pounds. When Riley, age 8, went to the animal shelter, he was looking for a big dog. Instead, he came home with li’l Ladybug. He learned quickly that size doesn’t matter when it comes to wrestling partners. Instead, it’s spunk that counts—something that both the boy and dog have in spades.
“Watching Riley now, it’s hard to believe he was ever so incredibly sick. It’s almost as if nothing ever happened,” says his mom, Alysha. “He is very gung-ho. He has the energy of five people.”
That hasn’t always been the case. When Riley was born in Hilo, Hawaii, he had jaundice and pneumonia. The hospital on Oahu did a liver biopsy and discovered bile duct paucity. It’s a condition where the liver doesn’t have enough bile ducts—the small tubes that drain bile, a fluid that helps the intestines digest food and absorb vitamins. Bile duct paucity is a hallmark feature of a condition called Alagille syndrome.
Although the hospital caught Riley’s liver problem, they missed his heart condition, something that can happen with this rare genetic syndrome that occurs in just 1 in 30,000 to 45,000 children in the United States each year.
Alagille syndrome: A multiorgan opponent
“Alagille syndrome is very complicated. It affects multiple systems within the body, most commonly the cardiovascular (heart) and the gastrointestinal (liver). If a doctor doesn’t know to look for it and evaluate each of the organs potentially involved, a patient might not get all of the care they need,” says Jeff Feinstein, MD, pediatric cardiologist and co-director of the Alagille Syndrome Program at Stanford Medicine Children’s Health.
Luckily, Riley’s doctor in Hawaii recognized that Riley had Alagille syndrome. He treated Riley’s liver symptoms and hoped that he would outgrow it when he turned two. Instead, Riley got worse with time. Around his second birthday, he was diagnosed with end-stage liver disease and osteoporosis related to his Alagille syndrome. His doctor sent him to Stanford Medicine Children’s Health for a liver transplant evaluation.
When Riley arrived at Stanford Medicine Children’s Health, he was very sick. His liver was burning all his calories, so he was malnourished, thin, and fatigued. His skin, teeth, and eyes were yellow from jaundice, and his failing liver caused his skin to itch terribly. On top of that, doctors found problems with his heart and lungs.
“The heart and liver are interrelated. Heart problems can accelerate liver disease, especially in a child whose liver is already failing. It’s incredibly important to have heart and liver doctors working together for children with Alagille syndrome,” says Noelle Ebel, MD, a pediatric liver specialist and director of the Alagille Syndrome Program.
If heart and liver problems are caught early on in patients with Alagille syndrome, doctors perform heart surgery while the liver is stable and then complete the liver transplant. Yet Riley’s liver and heart were both critical, making it difficult for him to be strong enough to handle surgery for either one of them.
Multidisciplinary approach pins down the best care
“That’s why cardiothoracic surgeon Frank Hanley, MD, took the unusual approach of doing the surgery in two separate stages rather than taking his usual approach of fixing the multiple heart and blood vessel abnormalities at the same time. He solved the most pressing and complicated problem first—stabilizing Riley enough for him to be able to survive the liver transplant—before going back and finishing the remainder of the repair,” Dr. Feinstein says. “Without performing the cardiac surgery first, the elevated pressures inside the heart would put significant stress on the liver, and the lack of oxygen circulating throughout his body would affect his recovery from the liver transplant. It’s amazing the things our doctors in the Alagille Syndrome Program are willing to try, and able to do, to help patients heal.”
Riley had pulmonary artery stenosis, which causes narrowing in many of the blood vessels that carry blood from the heart to the lungs. These narrowed vessels occur in approximately one-third of children diagnosed with Alagille syndrome. Besides pulmonary artery stenosis, Riley also had a “hole in his heart,” called a ventricular septal defect.
“I’m so proud of everything Riley has overcome. He understands that he has been given a second chance at life,” Alysha says.
Riley’s family lived at the Ronald McDonald House at Stanford for three years while Riley was in and out of the hospital for surgeries and treatments. After his initial heart surgery, it took a year and a half for him to receive a donor liver. The liver transplant went well, as did Riley’s second heart surgery. Alysha is extremely grateful for the extraordinary medical care that Riley received, and also for the help with a place to stay, and essentials like groceries, clothes, and diapers.
“Stanford Medicine Children’s Health was one of the best things to happen to us. Dr. Hanley—bless him—he has an unreal talent, and we had the same confidence in the liver transplant team,” Alysha says. “Nothing compares to Stanford Medicine Children’s Health. They put everything on the table and consider it; then they work together to move forward and give the very best care.”
Having evaluated more than 100 patients for Alagille syndrome, Stanford Medicine Children’s Health is known as the authority on the syndrome in the Western United States and the premier destination in North America for treating complex cardiac conditions common to Alagille syndrome.
While the syndrome most commonly affects the heart and liver, it can also affect the brain, bones, eyes, kidneys, nerves, and more, depending on its severity. To provide multidisciplinary care, the Alagille Syndrome Program brings together experts from several specialties, including hepatology, cardiology, cardiothoracic surgery, gastroenterology, oncology, rheumatology, nephrology, neurosurgery, neurology, endocrinology, and ophthalmology.
“As doctors, we know that long-term outcomes depend on what happens in the operating room. We specialize in treating the sickest, most complex children with Alagille syndrome, and our heart surgery outcomes and liver transplant survival rates are some of the best in the country,” Dr. Ebel says.
The hospital is home to the cardiac portion of the Global Alagille Alliance (GALA) study, which has enrolled more than 1,500 patients from 80 countries. Being on the forefront of data collection and research means cutting-edge care. Riley is part of the GALA study, and his doctors still follow his progress, three years later.
Lifelong care across the miles
“That’s the beauty of our program. Our care never ends, even if you live far away,” Dr. Ebel says. “We stay in touch with our families, and we welcome partnering with our patients’ local providers via telehealth. By working together, we can optimally manage Alagille syndrome so children can live their best lives.”
Riley doesn’t remember much about his time at Stanford Medicine Children’s Health, but he does remember getting ice pops after procedures.
“Riley likes to go to the hospital and see his doctors. That’s because Stanford Medicine Children’s Health made it so comfy for him. We now live in Florida, but he still expects ice pops from his doctors,” Alysha concludes.
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