Hayley Koujaian was born a happy, healthy, normal baby.
"She was a perfect little girl, did all the normal things, made her milestones," said Hayley's mother, Gail Koujaian.
"Then, around kindergarten, first grade, we could see that she was, you know, a little bit behind her peers," said Harry Koujaian, Hayley's father.
By the time she was 10 years old, Hayley was in a school for students with disabilities and began having seizures.
Hayley has Neimann-Pick Disease Type "C," a rare, irreversible form of childhood dementia that affects her ability to walk, talk, swallow and think.
"Originally, it was referred to as childhood Alzheimer's because some of the proteins that were accumulating were similar to the proteins that accumulate in Alzheimer's disease, and because it's a progressive dementia," explained Dr. Elizabeth Berry-Kravis, a professor of pediatrics, neurological sciences and biochemistry at Rush University Medical Center in Chicago.
While most children don't live past age 20, Hayley's progression, at 17 years old now, appears to have slowed down, and the severity of her symptoms has reversed ever since starting a drug currently in clinical trials called Cyclodextrin.
"If you give it before the cells have all degenerated, you can see protection where cells, where not as many of the cells in the brain die," Berry-Kravis said.
"As we started increasing the dosage we could definitely start seeing improvements. Better memory, better gait, swallowing was great," Harry Koujaian described.
The trial is now in phase-two. It's not a cure, but the Koujaians hope it will buy them time until a cure is found.
Once in a while the symptoms of Neimann-Pick Disease Type "C" don't come out until adulthood, and it is often misdiagnosed as early onset Alzheimer's. One tell-tale sign that someone has Neimann-Pick is the inability to lift their eyes and gaze up.