Alagille Syndrome and Liver Transplant: Alejandro’s Story

Alejandro’s liver problems began when he was born. He and a twin brother were born prematurely in Puerto Rico, where their parents, Angelica and Alexis, are from. Both boys had jaundice, which gives a yellow tint to the skin and eyes, and blood tests showed high bilirubin levels, which can indicate liver problems. Alejandro’s brother passed away at two months from related complications.

Alejandro’s doctors performed an exploratory surgery on his liver, but they were unable provide a diagnosis. As part of the procedure, they removed a small portion of the liver for study, and sent part of it to Children’s Hospital of Philadelphia (CHOP).

Diagnosis with a genetic condition

After analyzing the tissue, a liver disease specialist at CHOP called the hospital in Puerto Rico with a possible diagnosis. It appeared that Alejandro had Alagille syndrome, a genetic condition associated with liver, heart and eye problems and skeletal abnormalities. The medical team at CHOP wanted to examine Alejandro to confirm the diagnosis and develop a plan for treatment.

“We went straight to Philadelphia,” say Angelica. “We felt that Alejandro was in such good hands there.”

By the time they arrived at CHOP, Alejandro was extremely sick. He was still jaundiced and anemic. He had issues with vitamin deficiencies and was very small for his age. His belly was also bloated.

The family stayed in Philadelphia for a week of testing and consultation at CHOP’s Fred and Suzanne Biesecker Pediatric Liver Center. The doctors confirmed the diagnosis of Alagille syndrome and prescribed a course of treatment with medication.

Limited options for treatment

The family initially returned back home to Puerto Rico. “At the time, we did not have the means to move to Philadelphia,” says Angelica. “Our family and lives were in Puerto Rico, but it was very difficult to follow the treatment plan there, and they didn’t have all of the medications. We were scared and concerned.”

The family remained in Puerto Rico for the next year, where Alejandro continued to have health problems. He developed itchy skin, and he wasn’t gaining weight. He also began to have digestive issues with diarrhea and bloody stool. His itching was so terrible that he had a surgery, biliary diversion, to help improve the itching, but the surgery was unsuccessful.

Angelica and Alexis decided to bring Alejandro back to CHOP, where the doctors had such a depth of expertise in Alagille syndrome and liver disease.

Return to CHOP

“When we came back to CHOP he improved a lot,” says Angelica. Being back on the correct medication helped with the itching and brought the bilirubin levels down.

Alejandro was seen by David Piccoli, MD, a gastroenterologist with special expertise in Alagille syndrome. Dr. Piccoli is Director of the Biesecker Pediatric Liver Center. He explained that while medication would keep Alejandro stable, he would need a liver transplant to survive. The medical team wanted to delay that as long as possible to allow Alejandro to build up his strength.

That winter, Angelica and Alexis moved from Puerto Rico to New Jersey. They found a home close enough to CHOP so they could more easily get there for Alejandro’s visits. Over the next year and a half, they made the trip to CHOP often. Despite his medical challenges, Alejandro lived a mostly normal childhood. He went to school, where he received physical and occupational therapy.

Liver transplant

In the summer of 2015, the family was referred to CHOP’s Liver Transplant Program. In November, when Alejandro was almost 4, he was put on the list for transplant.

The couple learned about transplants from both deceased and living donors. Alejandro was a candidate for transplant from a living donor, in which a portion of the donor’s liver is removed. Both parents were tested as possible candidates for donation. Angelica was not a suitable match, but Alexis was.

“When we got the call, he was very happy and excited,” says Angelica. “It was the best news —  the best gift he could give his child.”

The transplant was scheduled for May. Alexis would have a portion of his liver removed in an operation at the Hospital of the University of Pennsylvania (HUP). Across the street at CHOP, Alejandro would undergo the procedure to replace his failing liver with a portion of his father’s healthy liver. Alejandro’s transplant would be performed by Kim Olthoff, MD, Director of the Surgical Liver Transplant Program at CHOP.

“The night before the transplant, the surgeons came to his room to visit with us,” says Angelica. “I never expected that. They spent an hour with us, telling us everything was going to be OK. They told me, ‘Look at him now because he will be different after the operation.’ That really helped me relax.”

Both surgeries were successful. A week after surgery, Alejandro’s skin had taken on normal color, a huge difference from the yellow cast it had had all his life. By day 10, the itchiness in his skin was gone. At three weeks, his bilirubin levels had returned to normal. At the end of a month, he appeared to be completely healthy, and the swelling in his belly disappeared a few weeks after that.

“It was a complete change”

“We were very excited to see the change in him,” says Angelica. “He was more engaged. He could speak more. He was happier. He started eating a lot more. He was an active, normal child. It was a complete change.”

Now 5, Alejandro loves to be outside running, riding his bike, digging in the sand and dirt, and playing baseball. Before his transplant, he didn’t have the energy for any of these things, and would be bothered by hot and cold weather. Today, Alejandro is an active and energetic child.

Alejandro returns to CHOP every six months for follow-up appointments. The liver transplant eliminated many of the most critical symptoms of his Alagille syndrome, but he will always have the condition. He sees specialists in cardiology, nephrology and genetics, the care coordinated through CHOP’s Alagille Syndrome Clinical Care Program.

Angelica is grateful to everyone at CHOP who gave her son a new life and who treated her and Alexis with such care and respect.

“That was a home to us, a second home. Everyone — housekeeping, nurses, doctors — they were like a family to us.”