Central Florida girl with mystery illness finally gets diagnosis
Updated On: Dec 12 2013 07:25:18 AM EST
A local family who's been trying to find answers to their daughter's mystery illness for years, has finally received a diagnosis from the National Institutes of Health.
"They called me to tell me that she was diagnosed with Batten disease," said Tammy Skriver, Brianna Skriver's mom. "There is no cure, there's no treatment and it's always fatal."
Skriver said she was sitting in a parking lot at a local grocery store when she heard the devastating news. After six and a half years of seeing her little girl decline, genetic testing finally revealed what was wrong.
"It's a nightmare that you can't wake up from," said Skriver.
Batten disease is a genetic disorder. The first symptoms typically begin around age 5, but in some cases, can occur in infants and even adults up to age 40.
People with the disease can't make an enzyme that's responsible for eliminating waste in the brain.
Brianna's case is pretty classic. She was a normal, active five-year-old girl, when her clumsiness, behavior changes and seizures began. She can no longer walk or talk and relies on a feeding tube for survival. Soon she will be robbed of her vision and all motor skills.
It wasn't always this way.
Back in 2006, Brianna Skriver seemed like any other active, healthy five-year-old girl. She had just started kindergarten and loved to play soccer and dance. But one day, her mom, Tammy, says she noticed Brianna was falling down on the soccer field for no apparent reason. The little girl's clumsiness soon turned into seizures and her health continued to spiral down out of control.
The family visited some of the country's best doctors looking for answers, including Duke University Medical Center and Johns Hopkins Hospital.
Brianna went through almost every test imaginable. Every organ in her body was biopsied, but no one could say what was wrong.
When Local 6 first met Brianna in 2012, she was among just a handful of people who had been accepted into the National Institutes of Health's Undiagnosed Diseases Program.
At that time, Brianna was still able to sit up on her own and color, two more things Batten disease has since taken away.
For now, Brianna's mom said she is focused on raising awareness about the disease. She is also battling Medicaid, trying to keep in-home care for her daughter.
On Skriver's Christmas list, a new head rest for Brianna's wheelchair to keep her head up and one more thing:
"We can only hope and pray that there will be a cure," said Tammy Skriver.
Skriver said Brianna's life expectancy is 8 to 12 years old. Brianna will turn 12 in March. There is some stem cell and gene therapy research underway. Brianna is also trying some experimental IV treatments.
To help Brianna or to learn more about her condition, visit friendsofbrianna.com.