2-year-old Venice girl, family struggle to control tuberous sclerosis

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VENICE, LOS ANGELES (KABC) — A Venice family hopes to raise money and awareness to fight an incurable neurological disease that affects children.

Tuberous sclerosis complex changed their lives forever.

“It brought us to our knees. There’s no words to describe what it’s like,” said Jill Hyman, mother of 2-year-old Skylar.

Five months after Skylar was born, her mother started noticing subtle, but unusual movements.

“It’s a head jerk. Your arms can raise and your feet and knees can come up,” she said.

Skylar was having seizures. After several days of testing, doctors told Jill and Jonathan Hyman that Skylar had an incurable condition: tuberous sclerosis complex.

“You’re going through life and you think everything is fine and then you get the rug pulled out from under you with the diagnosis,” said Skylar’s father.

Tuberous sclerosis complex, or TSC, occurs in 1 in 6,000 births. It causes tumors to form in vital organs such as the brain, heart, liver, lungs and kidneys.

“It’s a genetic condition and it affects just about every cell in the body,” said April Cooper, Community Programs Director with the Tuberous Sclerosis Alliance.

While it can be inherited, most of the time TSC occurs spontaneously, as in Skylar’s case. Even with treatment, the seizures still happen.

“Every time, it’s nerve-wracking and scary, ” Jill said. “Once, she almost stopped breathing.”

Tuberous sclerosis is the No. 1 genetic cause of autism and epilepsy. Stopping the seizures early is key to preventing developmental delay.

Skylar’s doctors called the seizures catastrophic to the brain.

“The earlier you can intervene on the infantile spasms, the greater chance you might have on not having delays,” said Jonathan.

And in new research, scientists discovered a biomarker that could help identify TSC before seizures strike. Clinical trials are underway.

“We can eliminate all the damage that happens from the seizures,” Cooper said.

Funding for research is why Skylar’s team or “Sky Crew” were at Saturday’s TSC Southern California Walk in Long Beach. It’s where families find comfort in each other and hope for their children.

“We want her to accept her disease, accept it as part of who she is but not let it define her,” said Jill.

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