A Miami family’s two sons, both born with a metabolic disorder, have defied all odds

Alfonso Balmaceda made his grand entrance into the world on Aug. 12, 2009 as a picture of health. But soon after birth his parents, Milagro Guardado and Luis Balmaceda, noticed he was in decline. He couldn’t keep down food. He was sickly and thin.

What began as a promise of thriving infancy soon unraveled into a perplexing and heart-wrenching mystery, launching his parents on a mission to discover the cause of his medical problems.

“I was sent home from the hospital with a normal child,” said Guardado. “But within a year he started showing symptoms and became very weak.”

Alexa Zucker, a social worker at Joe DiMaggio Children’s Hospital, nominated the family for Wish Book after seeing Alfonso frequently at her job.

“The family is in a sticky spot financially and emotionally,” said Zucker. “It’s important to donate to this family so they can focus on the child’s health and not have to worry about money.”

Alfonso was born in Miami but, because he had no medical insurance, his mother decided to take him to her birth country of Nicaragua where she hoped to find some answers. It was there doctors found a problem with his kidneys. They recommended a visit to a specialist in Miami.

But wait lists were long and no appointment was available. Alfonso finally got his diagnosis in 2010 after a trip to the emergency room.

At only a year and a half of age, Alfonso was diagnosed with two metabolic diseases, methylmalonic acidemia, which means that he cannot break down certain fats and proteins, and cystinosis, which causes the amino acid called cystine to accumulate in his cells and create crystals that can affect kidney function.

Guardado says doctors were shocked that Alfonso had survived so long with these diseases untreated.

Alfonso “is a gift from God,” said Guardado. “The geneticist told me that children born with his condition often die a week after they are born, yet he lived for a year and a half undiagnosed and with no medicine.”

The diagnosis was only the beginning of the road for Alfonso. By 2017, the cystinosis was causing his kidneys to shut down. He needed a transplant immediately.

A few days before Halloween in 2018, around 8 p.m., Alfonso and his family got the phone call they had been waiting months to receive. The hospital had a kidney. Alfonso celebrated Halloween with a new kidney.

But that wasn’t the end of their problems. Guardado’s and Balmaceda’s youngest son, Cleveland, was born deaf in 2016 and, like Alfonso, suffered from cystinosis.

When he was a year old, doctors put in cochlear implants. Both son and mother began studying American sign language.

“Technology can fail at any time,” said Guardado.

Guardado stopped working a few years ago to take care of her children full-time. Alfonso, 14, cannot attend school and needs daily medication to stay alive. His mother has to feed him medicine through a tube in his abdomen. His father gives him injections three times a week.

Guardado’s mother helped until recently. She was diagnosed with terminal cancer and died on Aug. 24, just three months after her diagnosis.

“When Alfonso got sick, my mom came to live here from Nicaragua,” said Guardado. “She would always say that she needed to be brave like him.”

Luis Balmaceda is the sole provider for his family. At 61 years old, he works as an electrician. “My job is very physically laborious,” said Balmaceda. “I come home completely exhausted.”

On a recent day, Alfonso, a quiet and shy boy, was cuddled up on the couch with his dad. He lit up when talking about his favorite action movies, science fiction books, and video games.

The Balmaceda family would be grateful for any help from Wish Book. Balmaceda is approaching retirement age but still has more than 10 years to pay on his mortgage. He would also like help with car payments. Alfonso is hoping for a PS5 gaming console for Christmas, and Cleveland would like toy school buses to add to his collection.

How to help

To help this Wish Book nominee and the more than 100 other nominees who are in need this year:

▪ To donate, use the coupon found in the newspaper or pay securely online through www.MiamiHerald.com/wishbook

▪ For more information, call 305-376-2906 or email Wishbook@MiamiHerald.com

▪ The most requested items are often laptops and tablets for school, furniture, and accessible vans

▪ Read all Wish Book stories on www.MiamiHerald.com/wishbook

This story is the product of a partnership between the Miami Herald and the Lee Caplin School of Journalism & Media at Florida International University

This story was originally published December 16, 2023 at 5:30 AM.