First ever medication for rare disorder now available

BOCA RATON, Fla. – There’s a medical milestone for patients suffering from a rare genetic neurological disorder.

Earlier this year the FDA approved the first ever treatment for Rett Syndrome.

After more than a decade of development, it now offers hope to some patients.

When Local 10 News first told the story of Ella Frank back in 2020 she had been living with Rett Syndrome for nine years.

It’s a condition that isn’t evident at birth.

“Brought her home, perfect baby girl, ten fingers ten toes everything was awesome,” said her father, Tim Frank.

But then Ella started to exhibit delays in her gross motor skills and she began losing other basic skills.

“She had words she couldn’t say, she used to say about 20 words and those words were disappearing and her find motor skills were disappearing what was replacing it was a constant hand wringing which is a classic sign of Rett Syndrome,” Frank said.

Genetic testing confirmed Ella had the condition, which is fatal male infants.

“Girls with this condition cannot talk they rarely walk independently they have seizures they have small head circumference and they don’t have purposeful hand movements that’s how severe it is,” said Dr. Roman Yusupov, a pediatric geneticist with Joe DiMaggio Children’s Hospital.

Frank became so passionate about helping his now 13-year-old daughter that he went to work for the Rett Syndrome Foundation.

Yusupov said funding raised by the organization helped support research into a drug called Trofinetide that just became available in late April 2023.

“Children who received this medication were able to communicate better, nonverbal communication but improved eye contact, there were able to concentrate better, they seemed to be less irritable and they used to have a lot of sleep problems which seems to be improving when they take this medication,” Yusupov said.

Although she can’t walk or talk, technology helps Ella communicate and her dad is hopeful this new medication will allow her to advance even further.

“Everybody’s reacting a little different to it some don’t react at all but the hope of the possibility is what’s exciting. What will this unlock for Ella, what will this allow her to do. The future is unwritten in that part and that’s really exciting,” Frank said.

The International Rett Syndrome Foundation recently approved 4.4 million dollars towards ongoing research into additional possible treatments.

About the Authors:

Kristi Krueger has built a solid reputation as an award-winning medical reporter and effervescent anchor. She joined Local 10 in August 1993. After many years co-anchoring the 6 p.m. and 11 p.m., Kristi now co-anchors the noon newscasts, giving her more time in the evening with her family.

Veteran journalist Kathleen Corso is the special projects producer for Local 10 News.