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Teen With Rare Neurological Disorder On The Road To Recovery – And Barbados

Turning 17 on June 26 marked the beginning of a whole new life for Daniella Sawyers, of Massapequa, NY. That’s because just one week later, Daniella started treatment at Cohen Children’s Medical Center with a newly approved drug that dramatically reduced the symptoms of a rare disease known as Rett syndrome.

“Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls and leads to severe impairments that affect nearly every aspect of the child’s life,” said Sanjeev Kothare, MD, director, Division of Pediatric Neurology at Cohen Children’s who has been treating for the past three years. “The disorder is caused by mutations on the X chromosome on a gene called MECP2. It is estimated that Rett syndrome occurs worldwide in one out of every 10,000 female births, which places it in the category of an ‘orphan disease.’”

Another point to consider about this disease is that patients will live to middle age or beyond with increasingly debilitating symptoms if not treated.

Daniella’s mother, Chyrel Sawyers, who is a nurse, noticed that at age 2 the toddler began showing signs of unsteadiness; she couldn’t stand or walk for long periods of time. Her concerned parents brought Daniella to a geneticist and the diagnosis was made.

Fast forward to 2021. Daniella’s journey brought her to Cohen Children’s under the care of Dr. Kothare. By now, Daniella was experiencing chronic and uncontrollable seizures – as many as 30-40 in one day. Her ability to speak was very limited; her mother said that Daniella “spoke with her eyes.”

All this began to change when Dr. Kothare prescribed a drug called Daybue (trofinetide), which was approved by the FDA in March. The new drug improved cognition, gait and behavior.

“We are so grateful to Dr. Kothare for prescribing Daybue for Daniella,” said Ms. Sawyer. “In just three months, she is walking and speaking sentences. And the seizures are much less frequent and of shorter duration. The thing to remember is that children like Daniella understand everything – it’s like they’re trapped inside a piece of glass.”

Also present at the reunion between Daniella’s family and Dr. Kothare was Mackie Holder, Consul General, Barbados of New York, and his colleague, Tenisha Holder, from Barbados Tourism Marketing, Inc.

When Consul General Holder was told that Daniella’s one wish was to travel to Barbados, her mother’s birthplace and also that of Rihanna, he sprang into action. The family burst into applause when Mr. Holder announced that they would be treated to a one-week vacation in Barbados.

As her mother pointed out, Daniella clearly understood the announcement. Looking at Ms. Sawyers, Daniella said, “I love it.”

According to Dr. Kothare, Daniella will be taking the medication for the rest of her life. He believes that she and her family will continue to see improvements.

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