Guatemalan family makes the most of Mayo Clinic trips for son's treatment

ROCHESTER — A rare disorder has left Alejandro Carrasco unable to speak, feed himself and unable to walk. It also takes him and his family from their Guatemala home to Minnesota twice a year. And they make the most of it.

Adriana Carrasco, Alejandro’s mother, knew something wasn’t right with her son. He wasn’t growing much and didn’t seem to be thriving.

It took nearly two years of tests and visits to Boston Children's Hospital to diagnose the 5-year-old with a rare genetic disorder.

Alejandro has a type of congenital disorders of glycosylation. The disorder affects proteins in his body's cells, which affects his body’s ability to build certain sugar chains needed for certain cells in the body to function including blood cells, muscle cells and brain cells.

Alejandro’s specific type of CDG affects the ability of proteins in his cells to uptake manganese and other metals essential for cell function.

Dr. Eva Morava-Kozicz, a geneticist and metabolic specialist at Mayo Clinic said about 30 people worldwide have the type of CDG Alejandro has.

“His blood test results looked like an error,” Morava-Kozicz said. “He had absolutely no manganese in his blood.”

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Two years is about the average time it takes for similar cases to be diagnosed, she added. As with any rare disease, treatment has been a challenge and a learning opportunity for specialists.

“I can’t just open up a book,” Morava-Kozicz said.

For Alejandro’s case, the disorder is like having three illnesses — a mineral uptake disorder; the sugar chain building disorder and a metabolic and energy disorder.

Alejandro has responded well to treatment so far. He gained about 10 pounds since September, Adriana said during the family’s most recent visit to Minnesota for Alejandro’s treatment in January.

Morava-Kozicz said one treatment that has so far proven to be effective was to supplement him with manganese directly.

“It’s actually a very simple but very smart treatment,” she said.

The success of the treatments has helped Alejandro thrive compared to his weight and health when he was younger.

He’s nonverbal but his smile is expressive when his father, also named Alejandro, comes into his view.

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“We don’t know how much time God will let us have with him, but our goal is to make him the happiest kid while he’s here,” Alejandro said.

The family, including Adriana and Alejandro’s daughter, Daniela, 8, take time to explore and enjoy Minnesota when they visit for appointments. They stay at the Ronald McDonald House when they visit. It helps ease the cost of expensive trips, they said.

“It’s very nice here, very welcoming and they always have things for (Daniela) to do,” Adriana said.

The family can’t afford to travel for vacation so they’ve resolved to make their trips to Minnesota their vacations.

In 2022, the family attended a Minnesota Vikings game as the team hosted the Green Bay Packers at U.S. Bank stadium in Minneapolis.

For the elder Alejandro, it was a childhood dream come true to bring his family to a Vikings game. He has been a Vikings fan since he was a teenager.

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When Alejandro was in high school, he studied in Minnesota as an exchange student from Guatemala. His host family took him to a Vikings game.

The family has also made trips to the Mall of America and Daniela got a chance to make a snowman with help from volunteers and staff at the Ronald McDonald House.

“We try to find a new positive and fun experience when we’re here,” Adriana said.

“He enjoys these trips,” Alejandro said of his son. “You can see it on him — he will be smiling a lot.”

Since being treated at Mayo Clinic, that’s the boy Morava-Kozicz has come to know.

“He’s all smiles, very emotive, very tender,” she said.

In total, people who have rare diseases are more numerous than the number of people who have diabetes and other more common ailments.

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For Alejandro, every successful treatment is blazing new ground and understanding of his condition that will help others, Morava-Kozicz said.

That is one part of the privilege of treating such patients. The other?

“You get to build these long-term relationships with them,” Morava-Kozicz. “It’s a privilege.”