Dad Uses AI To Help Find Treatment For Son’s Rare Disease: EXCLUSIVE

In the early morning hours, Stephanie Holzhuber woke because something was wrong with her then 7-month-old son, Max.

“Stephanie was in a panic and was like, ‘Thomas, I think Max (had) a seizure,’” Thomas Wagner, Max’s dad and Holzhuber’s husband, told Kate Snow in an April 2 segment on TODAY. “Max was lying on his side … and he clearly looked like he was having a seizure.”

The couple called 911 and Max underwent a slew of scans and genetic testing at the hospital. As he continued having seizures over the next three weeks, his family finally learned what was wrong. He had a genetic condition called Alexander disease, and the outlook was bleak.

Immediately the geneticist said, “At the moment, there is no treatment, no cure and life expectancy is five to 10 years,” Holzhuber recalled to TODAY.

Bereft, Wagner wanted to do something. Using Google Gemini AI, he was able to better understand the condition and used what he learned to connect with researchers.

“I’m just a dad,” Wagner said. “Gemini has made me a dad that understands Alexander disease a little bit better. But I am really just a dad who is trying to do the little he can … to make a difference.”

Non-stop seizures

When Max experienced his first seizure, his parents panicked.

“I don’t think we ever saw a seizure before,” Wagner said.

The 911 operator coached the couple, trying to keep them calm and keep Max safe. They filmed the seizure to show the doctors as they waited for the ambulance for “the longest 10 minutes,” Wagner said.

Max’s seizure lasted at least 30 minutes. When the family arrived to the hospital, doctors ordered a CT scan, an MRI and EEG. Max also underwent genetic testing. After a stay in the hospital that lasted a few days, the family returned home. For four days, Max didn’t have any seizures. Then, on the fifth day, his parents noticed something amiss.

“He was munching on his broccoli with one hand, and I saw his hand twitching uncontrollably,” Holzhuber said. “I said … ‘Thomas, I think he’s having another seizure.’”

On the drive to the hospital, Max “kept having seizure after seizure,” she added. Doctors gave Max seizure medication to try to help the baby. But over the next two weeks, Max’s condition worsened.

“He still had seizures,” Wagner said. “He can’t keep having a seizure every 25 minutes.”

Scared, the couple emailed Max’s neurologist who asked them to come in immediately.

“It’s the third hospital stay in three weeks, and they put him on another seizure medication,” Wagner said.

At the same time, the geneticist received the results of Max’s genetics testing and knew what the boy had — Alexander disease. Holzhuber asked what the treatment would be and the answer was devastating.

“It’s like, ‘Unfortunately, no, there is nothing we can do,” Wagner said. “You’re going to go home and love him well … that’s it.”

They couldn’t believe they had no options to help Max survive.

It sounded like “a death sentence,” Wagner said. “There’s nothing we can do. There’s nothing anyone can do. There’s a lot of parents who go through this, and it’s just awful and I don’t want to accept that. I think there’s always something you can do.”

Wagner, who works as a marketing manager at YouTube, which is owned by Google, returned home and started Googling.

“You read a lot of things that just reinforce … how dire it all is,” he said. “It’s also all these words that I just did not understand.”

That’s when he turned to Gemini. He thought the Google AI could help him comprehend what the disease really was.

He asked it, “Can you just help me understand this in really simple terms?”

After he understood Alexander disease more, he noticed that it shared characteristics with some more common conditions. He decided to reach out to researchers to see if his understanding matched what they might know. Once again, he used AI to help him craft an email that was scientifically accurate while he added his personal touch.

“It spits out an email to the professor with some scientific logic,” Wagner said.

Soon enough, the dad started receiving responses. Some of the researchers hadn’t heard of Alexander disease. The National Organization of Rare Diseases (NORD) says it’s “extremely rare,” and its “true prevalence is not known,” per the National Library of Medicine. Still, many of the scientists thought what Wagner said about it was interesting and said they’d consider looking into it.

“You’re being told you have no odds. If I can connect scientists to Alexander disease, that increases the odds over zero,” Wagner explained. “That’s empowering and that increases the chances people are going to find something.”

In his research, Wagner learned that a protein plays a role in Alexander disease. He then found a researcher that created a technology that could potentially eliminate proteins that cause disease.

“I sent him an email outlining how I thought his technology … could potentially be something worth pursing in Alexander disease,” Wagner said. “They pretty immediately wrote back, saying this is really interesting.”

Connecting others for Alexander disease

According to NORD, Alexander disease is a neurodegenerative condition that begins in infancy and early childhood that impacts the astrocytes, a type of cell that support the nervous system. A protein, GFAP, contributes to Alexander disease, Pranam Chatterjee, Ph.D., told TODAY. He has a lab that uses algorithms to address rogue proteins that contribute to illnesses.

“Our goal is to get rid of proteins that cause diseases. That’s it. And unfortunately, those proteins that cause disease are very difficult to (find drugs for),” the assistant professor of biomedical engineering at Duke University said. “We design algorithms that can search the possible space of all drugs or all possible molecules that could hit that protein and get rid of it.”

When Chatterjee received Wagner’s email, he was interested. He had not heard of Alexander disease, but the dad sent such a thorough email that Chatterjee thought he was speaking to a colleague.

“Everything that I would have normally asked someone who was describing a disease to me, he had already answered,” he said. “I thought I was talking to a scientist or maybe a clinician that had been working on this disease.”

While Chatterjee believed his lab could help potentially find a treatment for Alexander disease, he needed to connect with researchers who have studied it and comprehend its “unique biology,” he said. “What Thomas did was connect me with those scientists.”

While Chatterjee wanted to employ his technology to potentially help Alexander’s disease, there was a problem. He needed funding. Wagner also had a solution for that.

Wagner sits on the board of the End Alexander Disease foundation, which in March 2024 awarded Chatterjee $100,000 grant for two years. In September 2024, the lab received an NIH grant for $1.25 million to show that the technology works by examining Alexander disease. While this condition is rare, Wagner noticed there is some overlap with Alzheimer’s disease, making the research project more attractive to funders.

“What Thomas and I found was that the protein that causes Alexander disease, the bad protein we want to get rid of, also has strong implications in Alzheimer’s disease,” Chatterjee explained. “If we can solve the Alexander disease problem by getting rid of that protein, it should have a positive benefit also for Alzheimer’s patients.”

Chatterjee’s lab is one of 10 now investigating Alexander disease, Wagner said.

The power of parents

Now 2, Max loves discovering new things.

He has “big feelings and wants to explore everything, touch everything,” Wagner said. “The way the disease shows itself is that there’s a lot of things he can’t do.”

Max wants to run but still cannot stand on his own. But he uses a walker to toddle around the house.

“He’s a happy little man with a big personality,” Wagner said. “He loves people a lot. We sometimes say he’s the mayor because wherever we go, he needs to meet everyone and greet everyone.”

Max embraces fun despite how Alexander disease impacts his health and development. Creating their own nonprofit and advocating for Max makes his parents “less scared of the future,” Holzhuber said.

“We very quickly learned that in the rare disease space it comes down to the parents getting active, mobilizing people like Thomas, reaching out to scientist to work on something that maybe is relatable and bring them over to our disease,” she said. “As a parent, there’s always something you can do for your children.”