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4-year-old with rare genetic disorder receives life-changing liver transplant


It would have been OK for Jorge Cubas to be scared. No parent would have faulted him.

But his thoughts, prayers and faith were steadfast. Even as they got the call. Even as they rushed to VCU Medical Center.

He knew his 4-year-old daughter Astrid was in the best of hands.

“I just had faith in the doctors,” Cubas said.

With that peace of mind, Cubas and his wife, Roxana Sanchez, waited as a surgical team with the VCU Health Hume-Lee Transplant Center — in consultation with care partners at the Children’s Hospital of Richmond at VCU — operated on their daughter.

Astrid was suffering from a rare genetic disorder, maple syrup urine disease, named for the sweet smell of an afflicted patient’s urine. The disease, if left untreated, can be deadly. Even with treatment, the metabolic condition can be accompanied by a variety of symptoms. For Astrid, it meant life with a gastrostomy tube, or G-tube, to deliver nutrients directly to her stomach. She had suffered a seizure and a stroke, and her life was full of stringent dietary restrictions.

“I couldn’t stand seeing my daughter the way she was suffering,” Cubas said.

There is a long-term, permanent solution to maple syrup urine disease — a liver transplant. It was an option that would offer Astrid life without the G-tube, and no more worrying about the next health crisis.

“I would do anything for my kids, and if it’s going to take a transplant, then we’re going to do it. If it’s something else, then we’re going to do it,” Cubas said.

The procedure, planning and coordination would be complex to ensure the life-changing outcome for Astrid.

“The Hume-Lee Transplant Center’s collaboration with the Children’s Hospital of Richmond at VCU is absolutely central to our mission. We serve patients of all ages who have advanced organ disease, and are privileged to be able to offer liver and kidney transplantation to children in partnership with CHoR,” said Marlon Levy, M.D., the David M. Hume Endowed Chair of the Division of Transplant Surgery and director of the Hume-Lee Transplant Center.

“The answer is never no, it is always yes,” said Timothy Bunchman, M.D., director of pediatric transplantation at CHoR. “We can handle it all. The care is all here. It’s local and it’s high quality, bringing in family members as active members of our outstanding collaborative team.”

Roxana Sanchez and Jorge Cubas assist their daughters, from left, Astrid Cubas-Sanchez and Roxanne Cubas-Sanchez as they call for an elevator at the Children’s Pavilion following a recent appointment. (Photo by Kevin Morley, University Relations)
Roxana Sanchez and Jorge Cubas assist their daughters, from left, Astrid Cubas-Sanchez and Roxanne Cubas-Sanchez as they call for an elevator at the Children’s Pavilion following a recent appointment. (Photo by Kevin Morley, University Relations)

A number of pre-surgery tests and appointments followed for Astrid. Behind the scenes, the multidisciplinary VCU Health team prepared for her care before, during and after the transplant. The process included staff run-throughs of actions and processes tailored to her case.

Then, in October, the team received the much-anticipated organ offer. It was a match and Astrid would be getting her new liver. The team’s countless hours of planning went into action, making the operation and a follow-up procedure a success. After several weeks of recovery in CHoR’s dedicated inpatient care units, Astrid went home.

“I can’t really believe it,” Cubas said. “She’s doing wonderfully. When someone meets her and I tell them what she’s been through, they can’t believe it. They say it’s unbelievable.

“She has a new life. I know she doesn’t fully understand it yet.”

Cubas and VCU Health are sharing Astrid’s transplant journey to help commemorate National Pediatric Transplant Week. The occasion falls annually on the last week of April, which is National Donate Month. The week takes aim at ending the pediatric transplant waiting list and affords members of the transplant community an opportunity to reflect on the children’s lives saved.

According to Donate Life America, approximately 2,000 children younger than 18 are on the national transplant list. Of those waiting for a transplant, more than 500 are between 1 and 5 years old. However, in 2018, there were 875 pediatric organ donors.

For Cubas, there is one donor and family in particular for whom he will forever be grateful.

“I am here, thankful. I just want to say, ‘Thank you for my daughter’s new life.’”