ORLANDO, Fla. — Two local moms turned their mourning into a medical breakthrough that could help future kids.
Their baby died of a rare genetic condition at just two months old, and as they told only Channel 9′s Karla Ray, their selfless donation of their son’s body to scientists led to brand new information about his condition, and it’s changing how treatments are formed.
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With unmistakably plump cheeks in photos, snuggled up with his twin Lucian, Tristian Ziegler looks like any other baby.
“I was very surprised when we found out we were having twins, it was very unexpected. For somebody who always has things according to the plan, that was not according to the plan,” Krista Ziegler said.
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Lucian growing up without his brother wasn’t the plan either. Just days after the twins came home, moms Krista and Jennifer knew something wasn’t right with Tristian.
“I just remember [a doctor] telling me, this is fatal,” Jennifer Ziegler said. “This is fatal. We don’t know much about everything, but this is going to be fatal.”
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The diagnosis, made at Arnold Palmer Hospital for Children, was slimmer than one in a million; it’s associated with a CASK gene mutation, which is a condition that impacts brain development and leads to early death.
“This is, I would say, not only rare, but ultra rare,” Clinical Geneticist Dr. Ingrid Cristian said. “There’s possibly about 200 cases described in literature, or a little bit less than that.”
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Clinical Geneticist Dr. Ingrid Cristian explained that because there are so few cases on record, there’s not a lot of research into what causes this mutation or how to treat it. That’s why what happened after Tristian’s short time here on Earth is so miraculous.
“Once we found out that we couldn’t save our son, we went into, he’s not going to die in vain,” Jennifer Ziegler said.
These moms found a team at Virginia Tech, studying CASK and donated Tristian’s body to be studied. The work led to a major discovery; that the condition that took Tristian’s life is neurodegenerative, meaning the symptoms get worse over time as cells die due to the gene in question not working properly.
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“So that was definitely different from what we had thought, initially,” Dr. Cristian said. “So that really changes it, because now we know, okay, if that’s the case, how could we prolong the life of that neuron?”
Now, more work is underway to see if drug treatment can prevent or slow further brain cell loss. So as Lucian lives on without his twin, the world is not without Tristian’s legacy.
“I don’t think that he was here for us to keep him,” Jennifer Ziegler said. “I think he was here for us to change the medical world. And that’s exactly what he’s done.”
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There are varying levels of CASK mutations. The team behind the study into Tristian published their work in the Journal of Medical Genetics. The hope is the findings will lead to treatments that prolong life and improve quality of life for those who receive these diagnoses, with the ultimate goal of one day figuring out what causes this in the first place.
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