Raising Awareness For A Cure
Valentina, however, had her first seizure when she was three months old. Doctors thought it was an immature neurological system. The seizures continued though, up to at least 14 per day. Doctors then thought she had cerebral palsy. It was not until she was four years old, this past August, that Raquel and Antonio learned the fate of their daughter Valentina.
She was diagnosed with Rett syndrome.
Her mom was told Valentina would not be cured, there was no medicine and she would lose all of her motor abilities. “The nurse saw I was numb,” Raquel Priolo said. “A nurse escorted me into a room and gave me literature about Rett syndrome and advised me to see a geneticist. I had no idea what this was.”
She quickly learned that Rett syndrome is an autism spectrum disorder that only affects girls. The common cause for Rett syndrome is mutations in a gene located on the X chromosome. Somewhere between six and 18 months old, the girls suddenly lose their ability to talk, walk and use their hands. They enter a period of regression, developing repetitive hand movements, irregular breathing pat- terns, seizures and extreme motor control problems. They live like this for the rest of their lives even if as infants, they initially appear to grow and develop normally.
“Many of these parents have never heard their kids say ‘I love you,’ or ‘mommy,’ those first words parents can’t wait to hear. It never happens,” Raquel said.
In an effort to become more active, she is calling upon people to come out and learn about the disease. An awareness event for Rett syndrome will be take place on Saturday, October 15 at 11 a.m. in Manhattan outside the Tweed Courthouse, located at 52 Chambers Street. Organizers of the event, Tri-State Rett Syndrome Center, say it’s not a fundraiser, but rather an awareness event.
Along with the NYC date, more than 25 other sites across the world will be holding events simultaneously. The day will commence with short opening remarks. One girl who does not talk but can type, will have remarks read aloud on her behalf detailing what it’s like for a girl living with Retts syndrome.
The event will be attended by local New York City firefighters, as well, who will carry the girls to the top of the Tweed Courthouse stairs as they stand together in solidarity. The disease affects about one in 10,000 girls, many of whom are initially diagnosed with either autism or cerebral palsy before learning they have Rett syndrome. According to Priolo, she believes it can become the first curable brain disorder, which is enough for her to hold out hope for Valentina.
“When we hear researchers say they believe treatments or a cure will be discovered within the next ten years, we believe them,” she said. “We are more hopeful than ever that Rett syndrome will be the first reversible brain disorder.” For more information on donating to a cure, visit the Rett Syndrome Research Trust at RSRT.org. To date, the organization has pledged more than $11 million to research in finding a cure.