Clinical trial in St. Louis could save local girl’s life

ST. LOUIS – Annaliese Hupp suffers from a debilitating neurodegenerative disorder known simply as PKAN.

The 8-year-old relies on a ventilator to help her breath and her parents care 24 hours a day. Her body has slowly weakened since the day she was born.

"She was typically developing all the way up until the age of 15 months," said her mother, Melinda Hupp. "You wouldn't know that she was any different from any other baby that you would see."

By the time Anna was three, her parents noticed she was having trouble walking and began losing learned skills. At the age of 5, she was diagnosed with PKAN.

"It was not anyway the answer that my husband or I wanted, because when you research PKAN, at that point there's not a lot of hope that anything can be done," Melinda said.

Until just recently, Anna’s parents didn't expect her to live past 10 years old, but a medical breakthrough could mean a possible cure.

Doctor Susan Hayflick has studied PKAN for more than two decades. Her life's work has been to find a cure and just recently, her research found a treatment that cured mice with PKAN.

"We're actually fixing the downstream effects, which are part of the disease," Hayflick said.

Hayflick is working with the Spoonbill Foundation to raise funds that will bring a clinical trial to St. Louis so that Anna can receive the treatment. In order to begin the clinical trial, the organization needs to raise $2 million.

"We are optimistic that this will at least partially and maybe more recover some of the function of the brain cells that are damaged by this disease," Hayflick said.

That possible cure is giving the Hupp's hope that someday their daughter will live a normal, happy life.

"She'll be able to fly kites again, be able to stand up at the sensory and play with the water and sand, and able to walk and chase her sister around," Melinda said.

To learn more: http://nbiacure.org/spoonbill-foundation/