Health Spotlight: New drug to target Rett syndrome

INDIANAPOLIS (WISH) — Rett syndrome is a rare neurological disorder that steals a child’s ability to speak and use any voluntary motor movements, such as easily using arms, hands, and legs.

There is no cure for the disorder, but a new FDA-approved drug can stop the disorder before it develops.

Anushka Shah, a 19-year-old who just graduated high school with her sights set on college, was born with Rett Syndrome. She is nonverbal and unable to use her hands, so she communicates with an eye-gaze device.

While only medicines and therapies are used to help symptoms of Rett Syndrome, an FDA-approved drug called trofinetide, or Daybue, can be used to target genetic changes caused by the disorder.

Dr. Robin Ryther, a pediatric neurologist at Washington University, says she has seen it turn the clock back for some of her patients.

“We have one young woman, fore example, who has regained verbal speech and has over 30 words (in her vocabulary) now. She’s been on the drug for over two years,” Ryther said.

Shah has not taken the drug yet but is looking forward to a future helping people like her get their voices heard. She also wants people to know that while the syndrome is challenging, no one should ever give up beating it.

Rett Syndrome can now be detected at birth with broad screening tests, which will help diagnose before regression begins. The drug is approved for children two years and older.

Researchers are still gathering information on if patients will need to take the drug for life or if it will have the same impact on older patients.

This story was created from a script aired on WISH-TV. Health Spotlight is presented by Community Health Network.