Patient Stories
  • Gastroenterology & GI Surgery
Family of 4 posing on a bench

Virtually all people can experience an annoying itch from a bug bite from time to time, but some people feel the incessant need to scratch an itch all day, every day. Phoenix Children’s patients Caden, age 11, and Drew, age 7 have wrestled with terrible itching their whole lives.

Caden and Drew have Alagille syndrome (ALGS), a rare genetic disorder that can affect different parts of the body, but predominantly impacts the liver. This condition can be referred to by many other names, such as syndromic bile paucity and arteriohepatic dysplasia, and can cause severe, unrelenting itching, known as cholestatic pruritis.

“Pruritis is challenging to control in patients with cholestatic liver disease like ALGS and can significantly impact their quality of life,” said Pinar Bulut, MD, Caden and Drew’s pediatric gastroenterologist at Phoenix Children’s. “The underlying cause of the itching is due to a buildup of bile salt or acids in the liver that accumulates in plasma and other body tissues.”

There is no cure for ALGS, so treatment focuses on reducing bile acids, maintaining growth and development and reducing the degree of itching. However, last year Dr. Bulut shared some promising news with the boys and their families — Phoenix Children’s would become the first hospital in Arizona to prescribe pediatric patients with Livmarli, an FDA-approved oral medication to treat the itchiness caused by their rare liver disease.

Read on to learn more about Caden and Drew and this promising new therapy helping children with ALGS.

Life with Alagille Syndrome

Mother and son on ski lift
Caden with his mom

Like many children diagnosed with Alagille syndrome, Caden’s journey to his diagnosis has been a rollercoaster. It took several doctors, procedures, medications, hospital visits and many sleepless nights to narrow down Caden’s diagnosis.

When he was 2 months old, his doctors believed Caden had biliary atresia – a common misdiagnosis for those with ALGS. It wasn’t until after an emergency surgery they learned it was not biliary atresia, but it would be several years before an official diagnosis of ALGS was provided for Caden and his family.

Even with the relief of knowing his diagnosis, there wasn’t much they could do to help Caden with his symptoms. At times, Caden would scratch so hard, his parents said they would fly through a box of bandages trying to cover the scratches and cuts.

“We tried different types of medications and lotions – some helped temporarily, some caused other side effects, but nothing really stopped the itching,” recalled Michael, Caden’s dad. “There were a few times where Caden’s scratching was so bad on his arms, he wouldn’t wear short-sleeve shirts.”

Caden floated around doctors in Tucson until his parents learned about Dr. Bulut at Phoenix Children’s. “We’re so grateful to have Dr. Bulut,” Michael said.

Two photos of boy in softball uniform
Pictures of Drew before (left) and after (right) he started taking Livmarli medication

Like Caden, Drew also finds it difficult living with the itch. He was diagnosed with ALGS when he was 1 month old.

“Drew’s condition has meant so many sleepless nights for him and our family,” said Drew’s parents, Amber and Jeremy. “When Drew would itch, he would encounter a deep itch, where he would scratch until his skin would become very hot and even break the skin and bleed.”

Drew was referred to Dr. Bulut by his primary care physician in Chandler and has been with her and other specialists since Day 1 of his diagnosis.

“Dr. Bulut is a wonderful, knowledgeable and compassionate provider and deserves so much credit for Drew’s care as well as getting him started on this medication,” Amber said. “We’re very thankful for her and her GI team as well as everyone Drew sees at Phoenix Children's, which includes cardiology, nephrology, endocrinology, dermatology and nutrition.”

Medication Provides Overnight Relief

Dr. Bulut joined Phoenix Children’s 10 years ago to build the hepatology program and provide the best care to children with chronic liver disease. Prior to this, children like Caden and Drew and their families had to travel out of state for treatment and therapy.

Dr. Bulut is deeply involved in research, including the Global Alagille Alliance Study and had been closely monitoring the clinical study on the efficacy of Livmarli. She was impressed with the results and spoke with Caden and Drew’s parents about it.

“Livmarli targets and temporarily blocks something in the body called the bile acid transporter,” she said. “It reduces the amount of bile acids and leads to more bile acids being eliminated from the body into feces. This results in less itching.”

Livmarli is one medication patients take once a day. Previously, kids like Caden and Drew were taking multiple medications multiple times per day in order to manage pruritis – and even then, it wouldn’t be well controlled. Once Livmarli received FDA approval, Dr. Bulut began the process to get it prescribed to her patients.

In October 2021, Caden and Drew started the medication, and the results were almost immediate. Their itching has greatly reduced. They are now sleeping through the night, have more energy and are in better moods.

“It’s been a dramatic change,” Michael said. “Caden now gets plenty of sleep and is no longer up much of the night scratching. The dark circles under his eyes are gone, and it’s even helped him focus better in school.”

Amber said it’s been a game-changer for their son and the entire Alagille community. Drew’s itching has reduced, and he is now sleeping through the night.

“We want nothing more than for them to feel accepted and to be given every opportunity even through some of the difficulties they may face,” Jeremy said. “We are confident this new medication will greatly assist us in providing that quality of life for Drew.”

Both families are grateful to Dr. Bulut and her team for their expertise and dedication and are looking forward to what the future holds.


For more information about ALGS and the promising treatments available at Phoenix Children’s, click here.