Academic journal article The Science Teacher

Rare

Academic journal article The Science Teacher

Rare

Article excerpt

RARE Directed by Maren GraingerMonsen and Nicole Newnham. $40. Icarus Films. Brooklyn, NY. 2012.

[ILLUSTRATION OMITTED]

Ashley Appell was born with a rare genetic condition, Humansky-Pudlak Syndrome (HPS). At the time of her diagnosis, only 23 people were known to have the disease. The single-gene abnormality is characterized by albinism, visual problems (with many becoming legally blind), malformed platelets that cause bleeding problems, and lung fibrosis, which is ultimately fatal.

Ashley's mother, Donna Appell, was determined to find as many people with HPS as she could. This DVD follows her progress as she searches for other sufferers of the disease throughout the United States and Puerto Rico, which has the world's highest incidence of it. She organized conferences where these people could meet; share experiences; discuss drawbacks, conflicts, and emotions; develop friendships; and join a common cause. Diligently advocating for more research, she worked with the National Institutes of Health, which began clinical trials of the drug pirfenidone to reduce the progression of the lung fibrosis. It was hoped that studying HPS might also lead to therapies for other common diseases. People, of course, want immediate, positive results from clinical testing, and the video shows the importance of these trials and the long time they take to perform correctly. …

Search by... Author
Show... All Results Primary Sources Peer-reviewed

Oops!

An unknown error has occurred. Please click the button below to reload the page. If the problem persists, please try again in a little while.