At the Bedside: Lifesaving care at UTHealth Houston allows 7-year-old to contribute to finding a cure for rare genetic condition

Asher Times, 7, was diagnosed with Leigh syndrome shortly after he was born. (Photo by Michele Times)

Asher Times was not expected to make it through the night when he was born in The Woodlands, Texas, seven years ago. 

His parents, Aaron and Michele Times, noticed issues right away. Asher had almost no fat on his body, and he was having trouble latching. Medical tests revealed that he may have had a bowel obstruction, and his organs were failing. At a loss for what was afflicting him, Michele’s doctors airlifted Asher and his family to a neonatal intensive care unit in the Texas Medical Center in Houston. 

When Asher’s lab work showed that his lactic acid levels were unusually high, his doctors called Mary Kay Koenig, MD, director of the Center for the Treatment of Pediatric Neurologic and Neurodegenerative Disease at McGovern Medical School at UTHealth Houston. 

Lactic acid is produced when the body’s cells break down carbohydrates for energy. But too much lactic acid can be toxic. In some cases, it can be a sign of mitochondrial disease — Koenig’s specialty. 

A review of a head ultrasound doctors performed on Asher confirmed Koenig’s suspicions. Asher was born with Leigh syndrome, a rare genetic mitochondrial disease that causes the body’s nervous system to break down. Only 1 in 40,000 newborns worldwide are born with the condition. 

The first step after diagnosis is typically to run genetic tests to better determine treatment options, Koenig said. But because Asher was so sick, there was no time. 

Working against the clock, Koenig suggested cutting out all sugar from Asher’s diet while in the NICU and seeing how he responded. 

Almost immediately, Asher started improving. 

“Most of us eat our food and turn it something called ATP, which is our cellular energy. We use that ATP to make all the rest of our organs work, like our heart and our lungs,” said Koenig, who is the associate vice chair for clinical research in the Department of Pediatrics and holds the Endowed Chair of Mitochondrial Medicine at McGovern Medical School. “Asher doesn't do that very well. Because he can't process the sugars and turn them into ATP, two things happen: One, he produces excess amounts of lactic acid, which is very toxic to his body. And two, he doesn’t make enough ATP, which starves his brain and his muscles and all his other organs.” 

Despite his improvements in the NICU, Koenig warned Michele and Aaron that their son had a long road ahead. His condition meant that Asher would likely lead a very different life than that of his two siblings.

“She told us, ‘He may not walk, he may not talk, he may not eat, drink — any of those things. And life would likely be short for him,’” Michele said. 

Michele, a nurse practitioner, said the diagnosis was “devastating.” She had a healthy pregnancy and was blindsided by the news that Asher would face lifelong complications.  

But seven years later, Asher is defying the odds — walking, talking, eating, and attending school in a mainstream classroom — thanks to the specialized care he’s received from Koenig and a team of UTHealth Houston therapists, cardiologists, gastroenterologists, and immunologists. 

In addition to the specialized care he receives at UTHealth Houston, Asher Times participates in a natural history study that aims to find a cure for Leigh syndrome. (Photo by Michele Times)

“Without Dr. Koenig’s expertise and care, Asher wouldn’t be alive today,” Michele said. 

In addition to his sugar-free diet, Koenig and her team developed a specialized protocol to help balance Asher’s energy demands when he gets sick. Because of his condition, minor illnesses can send Asher into the hospital with acidosis, a condition that occurs when there is too much lactic acid in the body.  

To counteract acidosis, Koenig gives Asher IVs filled with lipids and other fats. 

“He's the cutest kid in the world, and he'll be sitting up there in the ICU sassing off to everybody, with this blood pH that shouldn't be compatible with life,” Koenig said. “And yet, there he is.” 

The treatment has been so successful with Asher that Koenig uses it in other children with similar conditions. 

Asher is also contributing to other kids’ care in a different way. To help find cures for others born with Leigh syndrome, Koenig enrolled Asher in the Leigh Syndrome Roadmap Project, a five-year, international natural history study that aims to help health care providers and researchers better understand the condition. 

As part of the study, Asher visits the center every three months to answer questions about his health and physical abilities, as well as participate in clinical evaluations and occupational therapy. 

The assessments will help researchers develop clinical trials that aim to find a cure for Leigh syndrome. 

Michele remembers looking up Leigh syndrome after Asher’s initial diagnosis and reading that the life expectancy was one year. Today, a search for Leigh syndrome reveals a life expectancy of up to three years. 

“The research is changing, the information that's being put out even to the general public is changing. We’re getting to participate in real time,” Michele said. 

This month, the Center for the Treatment of Pediatric Neurologic and Neurodegenerative Disease has expanded, opening a fully operational outpatient clinical research unit that comprises eight research rooms, a functional laboratory, an independent research pharmacy, and a physical and occupational therapy suite. The expansion allows for the center to provide a dedicated space for clinical trials across all pediatrics specialties. 

Koenig says the expansion will allow more children to benefit from research that moves medicine forward, as Asher has. 

“Our staff are specially trained to work with children. They know how to do blood draws on children. They know how to minimize the trauma of medical procedures. They know how to talk to kids about research studies and what that means,” Koenig said. “We’re providing a place for these kids to go that's not a hospital, where the kids can receive the same kind of access to research in a place that's more specialized for them.”