Years after daughter’s death, UArizona doctor on mission to treat rare epilepsy

Doctor hopes to find cure for rare form of epilepsy

TUCSON, Ariz. (KOLD News 13) - Doctor Michael Hammer spends every day in a lab at the University of Arizona.

There, he studies the inner workings of what makes us tick — the brain.

But those studies on the brain are motivated by a different organ.

“Shay’s not with us anymore physically,” Hammer said. “She is the motivation.”

Straight from his heart, Hammer said his studies are all for his daughter Shay.

She died nearly a decade ago, when she was only 15.

“She communicated in her own way,” Hammer said. “But a lot more information went in than went back out.”

Doctors could never figure out what caused Shay’s disability. The unknown made life tough for Hammer and his family.

“You’re not able to participate in the other things families do when they raise children together,” he said. “You feel very alone. We felt very alone.”

After Shay died, Hammer wanted to know more than ever what was wrong.

So he got to work and looked to his own genetics for the answer.

While he was processing the grief of losing his daughter, his research team came across something different.

“They called me at home and said we think we found the gene,” Hammer said.

Once they identified this mutation, Shay became the first person diagnosed with SCN8A. It’s a form of epilepsy that causes seizures, intellectual disability, and abnormal brain function.

Now, years later at his lab at the University of Arizona, her legacy lives on through new research. The team studies mice who have the same genetic mutation as Shay.

“We can get samples of the mice,” Hammer said. “We can understand the genetics and the things that are changing inside of the cell.” Hammer also works alongside Aurora Hurtado, a recent UArizona graduate.

Together they watch live feeds of the mice, and pay attention to what treatments help their condition.

“There’s not a day that goes by that makes me question what I’m doing honestly,” Hurtado said.

She’s proud to be working towards one goal — to make life easier for those who battle this rare form of epilepsy.

“Find a cure,” Hurtado said. “That sounds like a stretch cause this is a brand new mutation. But if we can do that in the next few years I’m in this lab. That would be an amazing goal of mine.”

All so people don’t feel as helpless as Hammer once did.

“It is Shay’s gift to the world,”Hammer said. “You’re not alone.”

Shay’s gift keeps on giving — until one day they find a cure.

Hundreds of others worldwide have been diagnosed with SCN8A since it was discovered in Shay's genetics.

Hammer runs a nonprofit specifically centered around the disease and hopes others don’t feel alone in their struggles.

You can find out more information about Shay and SCN8A at shaysgift.org.

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