Parents who lost son to rare disorder want more infant screenings

- A Lake Highlands couple who lost their 8-year-old son to a rare genetic disorder wants lawmakers to prevent other kids from developing the same fatal disease. They're heading to Austin on Thursday, armed with petitions.

Kurt and Jenna Kampfschulte are holding on to precious memories of their son, Julian. But everything changed for their healthy, growing baby boy when he turned 7.

He was having trouble hearing us,” his mom said.

Doctors determined Julian a genetic, degenerative brain disease without a cure called Adrenoleukodystrophy (ALD). Julian would live one more year while his brain rapidly shut down.

“He probably went from seeing 80 percent to 20 percent in that two weeks,” his dad said.

Julian’s parents now know ALD is passed from mother to son and can be detected at birth. If caught quickly enough before symptoms develop, therapies can help reverse the effects.

“Adding the disease to the newborn panel would bring to light any of those babies whose moms didn't know they were carriers to know that they had the gene to start watching them,” Jenna explained.

Several states like New York, California and Connecticut have already added ALD to the list of disorders that all newborns are automatically tested for. Federal and state medical experts have recommended Texas do the same. The only issue is funding.

“The government has to determine how to spend the money,” Jenna said. “Are they going to spend the money on fixing the roads? Or are they going to spend the money on testing the kids?”

The Texas Department of State Health Services says startup costs would run nearly $1.5 million with another $3.6 million annually.

The Kampfschultes say screening is already working in other states. So they're heading to Austin, armed with signed petitions.

“What could have been?” Jenna said. “If we had known, it's very possible we could have stopped it.”

 

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