7-year-old Bucks County girl with rare disease enjoys holidays for first time thanks to new medication
PERKASIE, Pa. (CBS) -- This holiday season is extra special for a Bucks County family learning to live with a rare disease.
New research is allowing the family to enjoy the holiday with their little girl like they never have before.
It's the first holiday that 7-year-old Emma Watson has known and enjoyed.
"It's like we're brand-new parents," Nicole Watson, Emma's mother, said.
Emma Watson has a rare genetic form of epilepsy called "Dravet Syndrome" that causes a constellation of developmental delays.
"She didn't speak for six years," Nicole Watson said.
Nicole Watson says Emma was four months old when she had her first seizure and stopped breathing.
"We had no idea what happened to her. It was the scariest moment of my life," Nicole Watson said. "It was the start of our life."
It became a life filled with medical fears. The seizures kept happening and there was no diagnosis from doctors.
"They just kept saying, 'Kids have seizures. It's not a big deal,'" Nicole Watson said. "You knew as a mom that was not normal you knew this wasn't normal."
The family switched doctors and finally learned – through genetic testing – what was wrong.
"Dravet Syndrome, seizures and what goes along with it usually changes every year," Nicole Watson said.
Because it's so rare, research and treatments are limited and Nicole Watson is working to change by raising awareness and funding.
Emma Watson is now on a new medication that's reduced the seizures and made her more aware and functional – this Christmas is a whole new revelation.
"Now this year she is so excited," Nicole Watson said. "The new medication that Emma just started improved her quality of life and was just approved."
Emma's Christmas will be filled with toys and new beginnings for the Perkasie family – grateful for the strides Emma is making.
"She's where she's supposed to be for Emma," her mother said. And this holiday season, they have a simple wish.
There is no cure for Dravet Syndrome but the Watson family is hoping research will lead to better treatments.
