Los Angeles family works to raise awareness of Rett Syndrome to help young daughter

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A local couple want people to understand Rett Syndrome, a rare genetic disorder, by getting to know their 5-year-old daughter Maggie. (KABC)

A rare, little known genetic mutation can rob young girls of their ability to speak and move.

A local couple want people to understand Rett Syndrome by getting to know their little girl Maggie Tesler.

The bright-eyed, Los Angeles 5-year-old communicates what she needs with a look. Maggie fixed her gaze on a board with symbols and then the laser-guided system speaks for her.

"I need a drink please," Maggie said.

She reached all her milestones as a baby and toddler. But at age 3, her parents, AJ and Jenny, noticed Maggie didn't talk as much.

A blood test revealed a Rett Syndrome diagnosis. It's a devastating, neurological disorder that mainly affects girls. Each day, her parents fight to keep her on course by constantly asking what interventions might improve her life.

"What interventions? What techniques? What therapies? What bracing? What adaptive equipment might be able to help her so she doesn't lose that skill," AJ Tesler said.

Rett Syndrome is caused by a genetic mutation. It leads to the underproduction of a brain protein, which is crucial for central nervous system development.

"It ends up affecting how you can communicate, how you understand other people trying to speak to you, how to control your hand movements," said Dr. Arthur Partikian, a pediatric neurologist at Children's Hospital Los Angeles.

He explained it also affects Maggie's ability to walk and even breathe.

"The prognosis, despite our efforts, is still quite concerning," Partikian said.

A genetic therapy to reverse Rett Syndrome has worked successfully in animal studies. Many scientists believe it can also work in humans. But Rett Syndrome is so rare, it's hard to rally support.

"We're already there and we just need to fund the next step of this science and that's the hardest part," AJ Tesler said in frustration.

Finding a way to reverse Rett in Maggie's lifetime is why her family works tirelessly to raise funds and awareness. As long as they have hope they believe Rett Syndrome is not what will define their daughter.

"I think that in fact the opposite - that overcoming Rett Syndrome is what's going to define her," her father said.

Maggie and her family are helping host a Reverse Rett Gala at the SLS Hotel in Beverly Hills on Oct. 20.

You can also learn more about the cause at reverserett.org and magnoliashope.com.
Related Topics:
healthhealthy livingmedical researchhospitalschildrenChildren's Hospital Los AngelesLos AngelesLos Angeles County
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