Texas Children’s neurologist accepts ice bucket challenge on behalf of ALS patient

August 26, 2014

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It wasn’t a typical Monday morning for Dr. Timothy Lotze, a neurologist at Texas Children’s. Besides making his usual hospital rounds to see patients, Lotze paid a visit to 14-year old Joseph Garza’s room. But, this visit was extra special.

Trading in his white lab coat for a comfy red T-shirt, Lotze participated in the Ice Bucket Challenge to help raise money and awareness for amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that severely impacts a person’s ability to move.

Lotze accepted the challenge from Texas Children’s Muscular Dystrophy Association representative Dalia Deleon on behalf of Garza, who suffers from an extremely rare form of pediatric ALS.

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“I am so grateful to Dr. Lotze for taking on this challenge to help raise awareness for ALS,” said Lorrie Garza, Joseph’s mom. “Hopefully, they’ll find a cure so no other family or child has to go through this terrible disease.”

A year before Garza’s diagnosis, Lorrie noticed her son was having trouble lifting his arms and began walking with a limp. His condition grew worse, but doctors in his hometown of Brownsville weren’t sure what type of neurological disorder he had. Once Garza was transferred to Texas Children’s, he and his family met with Dr. Lotze, who diagnosed Garza with ALS in May of this year.

While ALS primarily affects adults, there are children who suffer from this debilitating disease that attacks nerve cells in the brain and spinal cord which control voluntary muscle movement. Patients with ALS progressively lose their ability to eat, speak, walk and eventually breathe.

“Since the disease impacts voluntary muscle action, patients in the later stages of ALS may become completely paralyzed,” said Lotze. “It’s important for us to continue to support research and raise community awareness about ALS so we can find a cure for this horrible disease and improve the quality of life for these patients.”

That’s exactly what Texas Children’s researchers Dr. Hugo Bellen and his team strive to accomplish. In their laboratory at the Jan and Duncan Neurological Research Institute at Texas Children’s and Baylor College of Medicine, they are examining the role of genes in ALS to help find ways to suppress degeneration and improve a patient’s functionality.

“A subset of ALS patients have mutations in a gene called VapB,” said Bellen. “We are trying to understand the specific role of this gene by studying fly and mouse models of ALS, caused by mutations in this gene.”

Bellen and his team have discovered that the VapB protein circulates in the blood and functions as a hormone. It binds to receptors on muscle cells to control the function of the muscle mitochondria, the cell’s powerhouse. In the mutants, the muscle mitochondria do not function properly anymore, and this in turn affects the function of the neurons that innervate the muscles, ultimately causing these neurons to die.

“Although the causes of ALS are not well understood, we are making significant progress on how the disease may develop, which could lead to better therapies or possibly a cure in the future,” said Bellen.

As for Garza, his mom says he’s not giving up hope. “He’s already told me he’s going to fight,” said Lorrie. “And I tell Joseph, “We will fight together.”