ST. LOUIS — Imagine your toddler learning to walk and talk and then all of the sudden, your child stops and starts regressing inside of themselves. That’s what happens to children born with a rare genetic neurological disorder called Rett syndrome. It steals a child’s ability to talk and use any sort of voluntary motor movement, such as easily using their hands and arms – even walking can be difficult. There is no cure. But for the first time, these children have hope to stop the progression, and even reverse this disorder.
Anushka Shah just graduated from high school at 19-years-old with a 3.75 GPA and now has her sights set on college. Anushka has Rett syndrome – unable to speak or use her hands – she uses her eyes to communicate.
“I communicate using this eye-gaze device, meaning that I control it with my eyes. I know I am the coolest,” she said.
“Anushka overcomes challenges every single day,” her mother, Nita Shah, expressed.
There is no treatment for Rett syndrome, only medicines and therapies to help the symptoms – that is, until now.
Robin Ryther, MD, PhD, pediatric neurologist at the Washington University Rett Spectrum Clinic at St. Louis Children’s Hospital, explained, “We have, now, the first FDA approved treatment for Rett syndrome, a drug called Trofinetide, or Daybue.”
The drug could stop the syndrome before it takes hold.
“It targets the genetic changes. It's not a cure but it's the first step,” Dr. Ryther added.
Dr. Ryther has seen it turn the clock back for some of her patients.
She recalled, “We have one young woman, for example, who has regained verbal speech and she has over 30 words now, and she's been on the drug for over two years.”
Anushka has not taken the drug yet, but is looking forward to a bright future helping people like her get their voices heard. Recently, she took center stage at the Missouri State Capital.
Anushka’s father, Animesh Shah, proudly said, “One thing I can say is, she always inspires us.”
Rett syndrome can now be detected at birth with broad screening tests, which will help diagnosis even before regression begins. The new drug is approved for children two years and older. It’s a liquid, taken twice daily. It’s so new that researchers don’t know if patients will need to take it for life or not, or if it will have the same impact for people who are older living with Rett syndrome. As for Anushka, she wants people to know that Rett syndrome is challenging but not insurmountable and no one should ever give up on beating it.
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