OYSTER BAY COVE - A young Oyster Bay Cove woman who has a rare medical condition has inspired a federal disease study and a Stanford University documentary.
When 24-year-old Ashley Appell was baby, she was diagnosed with a condition called Hermansky Pudlock Syndrome, or HPS, which manifests itself in albinism, vision impairment and a bleeding disorder.
With only 23 diagnosed cases, Appell's mother, Donna, started the HPS Network. She wrote to pediatricians and even went on TV, where she contacted the first other mother whose child was also suffering from HPS.
Then, Donna Appell called the National Institutes of Health (NIH) and convinced the agency to study a treatment for HPS.
However, preliminary results of the study revealed that drugs were ineffective, so the study was stopped, but not Donna Appell.
"I really sometimes find it annoying that I have to sleep at night because you just want to keep going," she says.
Appell inspired Stanford University researchers to make a documentary called "Rare" about HPS.
Tonight and Sunday, the J band will play a benefit concert at Oyster Bay High School to help fight HPS.J Christmas"Rare" on FacebookOn Twitter: @RarefilmMedethics Films