ST. LOUIS, Mo. (Ivanhoe Newswire) – 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, 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 tells Ivanhoe.
“Anushka overcomes challenges every single day,” her mother, Nita Shah, expresses.
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 WashU Rett Spectrum Clinic at St, Louis Children’s Hospital, explains, “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 adds.
Dr. Ryther has seen it turn the clock back for some of her patients.
She recalls, “We have one young woman, for example, who has regained verbal speech and she has over 30 words now, and she’s been on 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 says, “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.
Contributors to this news report include: Marsha Lewis, Producer; Roque Correa, Videographer & Editor.
To receive a free weekly e-mail on medical breakthroughs from Ivanhoe, sign up at: http://www.ivanhoe.com/ftk
MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: GIVING CHILDREN A VOICE: BREAKTHROUGH DRUG STOPS RETT SYNDROME
REPORT: MB #5240
BACKGROUND: Rett Syndrome is a rare genetic disorder that primarily affects girls, characterized by severe developmental and neurological impairments. The onset of Rett Syndrome typically occurs around 6 to 18 months of age when developmental milestones start to regress. The cognitive abilities of individuals with Rett Syndrome can vary widely. Some may have severe intellectual disability, while others may have preserved or even advanced cognitive skills. In the United States, the occurrence of Rett Syndrome is estimated to be one in every 10,000 girls and rarely seen in boys. Rett Syndrome is a lifelong condition, and there is currently no cure, however there are many different treatment options to manage symptoms. The condition is divided into four different stages, one being the least severe and four the most severe.
https://rarediseases.org/rare-diseases/rett-syndrome/ , https://www.nhs.uk/conditions/rett-syndrome/)
SYMPTOMS & DIAGNOSIS: Young children with Rett Syndrome could lose hand skills, speech, and social engagement abilities. They often encounter a loss of motor function and develop repetitive hand movements like wringing, tapping, and clapping. Other symptoms may include problems with coordination, breathing abnormalities, and seizures. The diagnosis of Rett Syndrome requires a careful observation of a child’s growing and family medical history. The diagnosis is commonly confirmed when loss of developmental skills or slowed head growth is recorded.
https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233)
NEW TECHNOLOGY: The Food and Drug Administration has approved its first ever treatment for Rett Syndrome called Trofinetide. The drug is approved for adults and children over the age of two that experience the condition. The drug is taken orally or by a gastronomy tube. Trofinetide has shown promise in preclinical and clinical studies for its potential to improve cognitive and behavioral symptoms.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550498/)
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Judy Martin Finch Rachel Yann
martinju@wustl.edu Rachel.yann@bjc.org
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
