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Rare Disease

NEWS
September 14, 2011 | By Michael Vitez, Inquirer Staff Writer
Every day, thousands of Americans and their doctors fight with insurers for approval of a drug, a test, or a treatment. It is a fight almost every American has come to know on one level or another. What happens when an insurer says a lifesaving treatment is unproven, but a doctor thinks the evidence is there? And a patient's life hangs in the balance? Here is one story. On Thanksgiving, Paula Robinson, 54, asked her husband to take her to Abington Memorial Hospital.
NEWS
August 25, 2011 | ASSOCIATED PRESS
WASHINGTON - The Food and Drug Administration said Thursday it approved a drug from Shire PLC to treat a rare inherited disease that can cause dangerous swelling in the limbs, face and intestines. The drug Firazyr was approved to treat flare-ups of hereditary angioedema, a condition that affects less than 30,000 people in the United States. The disease can cause rapid swelling of the hands, feet, windpipe and other internal organs, which can cause disfigurement and even death.
NEWS
March 24, 2011
David A. Frick, 65, of West Chester, a retired teacher and coach, died of carcinoid cancer Monday, March 21, at home. Mr. Frick was on the staff of E.T. Richardson Middle School in Springfield, Delaware County, for 32 years until retiring in 2001. He taught math, English, and social studies and coached soccer and wrestling. Mr. Frick also coached wrestling at Springfield High School from 1974 to 1981 and was the Central League's 1979 coach of the year. His family had a vacation home in Avalon, N.J., and he spent summers as a bartender and later manager of the Avalon Yacht Club.
NEWS
August 30, 2010
Geneticist Richard Lifton had been more focused on heart than skin disease, but when a former postdoc dermatologist returned to describe a baffling case, the head of Yale's genetics department was intrigued. The patient's skin was a hodgepodge of red and white patches, said Lifton. The diagnosis was a rare genetic disease called "ichthyosis en confetti," named after the diseased skin's scaly look. The red patches were inflamed skin typical of the condition, but the white patches were a mystery to Lifton and his former postdoc.
NEWS
June 28, 2010 | By Tom Avril, Inquirer Staff Writer
The eyes of a fruit fly are among the miniature marvels of biology. Each one is divided into hundreds of tiny, bulbous units, arranged neatly in row upon row, giving it the honeycombed perfection of a piece of bubble wrap. But something is wrong with the fly under Gillian Ritson's microscope. The sections of the insect's eyes are not in tidy rows, looking instead as if they've been tossed in a salad. The eyes are a pale, waxy color, not the usual red. Their hairy bristles are crazily askew.
ENTERTAINMENT
May 21, 2010
THIS WEEK'S DVD box is full of worthwhile movies that people apparently didn't feel like dragging themselves to the theater to see. There's "Invictus," featuring Oscar-nominated Morgan Freeman as Nelson Mandela, using South Africa's mostly white rugby team to unite his newly minted but racially divided nation. Given the import of the subject, it's a little strange that the most entertaining featurette is about how Matt Damon learned to play rugby. Woody Harrelson was also nominated for an Oscar for his role in "The Messenger.
NEWS
January 21, 2010 | By GARY THOMPSON, thompsg@phillynews.com 215-854-5992
"Extraordinary Measures" will probably be slapped around for being square and clumsy, but there is also something new and fascinating about it. Yeah, in terms of style it's a Lifetime movie about one family's fight against a rare disease, but it's the prosaic details of that fight that actually make the movie worthwhile and timely, arriving as the debate over health-care policy seems about to reignite. "Measures" is the fact-based story of John Crowley (Brendan Fraser), a drug company executive quietly losing his mind because two of his children are succumbing to a rare disease - Pompe - which is degenerative and fatal.
NEWS
December 2, 2009 | By Ronnie Polaneczky, Daily News Columnist
LOOKING at Kyler VanNocker, whose fifth birthday was Monday, it's impossible to fathom that he could die from the disease he's battling. He's bright-eyed and energetic as he tears around the house he shares in Edgewater Park, N.J., with his parents, Paul and Maria, and siblings Kaden, 6, and Anelise, 3. He's just as active at pre-school, where he's learning his numbers and the alphabet. But the truth is, Kyler has neuroblastoma, a rare and deadly form of childhood cancer that attacks the nervous system, creating tumors throughout the body.
BUSINESS
July 16, 2008 | By Joseph N. DiStefano INQUIRER STAFF WRITER
ViroPharma Inc., of Exton, says it will pay $442.9 million for anti-inflammatory drug developer Lev Pharmaceuticals Inc., of New York, plus up to $174.6 million in bonuses if a Lev drug for a rare disease meets regulatory and sales goals. That works out to $2.75 in cash and stock, plus up to $1 more if targets are met, for each Lev share. The stock closed yesterday at $1.85 in over-the-counter trading. ViroPharma shares on the Nasdaq stock market closed at $10.62, down $1.92.
NEWS
July 19, 2005 | By Sally A. Downey INQUIRER STAFF WRITER
Jill Laura Creedon, 25, of Wayne, a nursing student who helped care for patients while she was battling a fatal illness, died at home July 12 of hemangioendothelioma. Miss Creedon was diagnosed when she was 2 with the rare disease, which causes tumors to form in the blood vessels. Though doctors were doubtful she would survive, with treatment, the disease went into remission and she enjoyed an active childhood. She graduated from Notre Dame de Namur Academy in Villanova, where she played soccer and softball and ran track, and then attended Virginia Polytechnic Institute, where she played soccer.
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