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Rare Disease

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NEWS
July 1, 1986 | By RON AVERY, Daily News Staff Writer
Every time rape suspect Timothy Purcell was brought to court, he vomited, cursed the judge loudly, rolled on the floor and had to be held down, shackled and carried bodily from the courtroom. It happened a dozen times during the past 17 months. Yesterday, for the first time, the 39-year-old Camden resident was able to stand still long enough to tell a judge in Camden what ails him. Speaking so rapidly the court stenographer could hardly keep pace, jerking his head violently, his face often twisted and contorted, Purcell explained what it is like to be one of 100,000 Americans suffering from Tourette's syndrome.
NEWS
August 21, 1988 | By Rosalee Polk Rhodes, Special to The Inquirer
Jana Flythe doesn't care about the fact that she has vitiligo or that she is among the 1 percent of the country's population that does. The bouncy, playful, 4-year-old Pennsauken resident is more interested in playing with her dolls, swimming and dressing up in pretty clothes than in worrying about the fact that vitiligo is taking the pigmentation out of her skin. The disease, about which little is known, affects about 2.5 million people nationwide, according to Susan Flythe, Jana's mother.
SPORTS
December 24, 2015 | By Kate Harman, For The Inquirer
It is July, and Leanne Purcell is playing summer league basketball with her Notre Dame teammates, working out every day to prepare for her final year of high school. Later that same month, she's the maid of honor at her sister Jaclyn's wedding. Next, it is Aug. 30, and Purcell is in Ocean City, N.J., with her father, Michael. She's reading Their Eyes Were Watching God on the beach. But something isn't right; her stomach is bothering her. The pain isn't normal, and it isn't cramping, either.
NEWS
November 15, 2015 | By Lini S. Kadaba, For The Inquirer
Tamela Oglesby was gasping for air. "It felt like my last breath," the 35-year-old nursing assistant said, reaching for her throat as she recounted that night one year ago. "I thought I was going to die. My heart was just beating, really, really fast. " Figuring it would be the fastest way there, she took a bus to Pennsylvania Hospital's emergency room, a few blocks from her Northern Liberties apartment. A chest X-ray revealed the diagnosis that changed her life in ways Oglesby could not have expected.
SPORTS
April 15, 1999 | By Sam Carchidi, INQUIRER STAFF WRITER
For years, Rico Brogna said, he didn't want anyone to know he had a rare arthritic condition. As an athlete, you never want to show opponents a sign of weakness, the Phillies' first baseman said. "And I didn't want a lot of sympathy. I just wanted to go out and play like the rest of my teammates. " Someone changed his mind. "Prodding from my mom," he said, grinning before a crowd of reporters yesterday. "Good ol' Mom. She said I might be able to help other people by creating awareness for the millions" who have the disease.
NEWS
July 29, 1990 | By Russell E. Eshleman Jr., Inquirer Staff Writer
He places his palms together in prayer-like fashion to say yes, and he crosses his thin little arms in front of his frail body to say no. Five-year-old Alvin Miller can neither walk nor talk. He suffers from glutaric aciduria, a genetic disorder with symptoms similar to cerebral palsy that is extremely common among the Old Order Amish. The smiling youngster has trouble communicating, but he has no difficulty expressing emotion - so evident one afternoon last week as he scooted on his bottom around his southern Lancaster County farmhouse floor.
NEWS
October 10, 2012 | By Kevin Riordan, Inquirer Columnist
As a civilian with the Army Corps of Engineers, Eric Majusiak was ready to respond to emergencies nationwide. In 2011, Majusiak, 28, was deployed to Joplin, Mo., after a killer tornado, and to Upstate New York in the wake of Hurricane Irene. But nothing prepared the burly outdoorsman and civil engineer for what happened in February. He was stricken by hemophagocytic lymphohistiocysis (HLH), a rare autoimmune disorder, and it nearly killed him. The South Harrison Township resident and his wife, Amanda, 25, are high school sweethearts but had been married for only a few months when he returned from a Salem County hunting trip with aching joints.
NEWS
July 30, 2012
Judy Nicholson Asselin is a middle school teacher and sustainability coordinator at Westtown School My handsome, intelligent, and remarkable son, Nathaniel, took his own life last year at the age of 24. For 13 years before his death, Nathaniel had suffered from body dysmorphic disorder (BDD), a severe brain disorder that affects an astonishing three million to five million Americans, striking most in adolescence. The BDD suicide rate is 45 times the rate found in the general population, according to one study, and twice the rate of those with severe depression or eating disorders.
NEWS
January 4, 2012 | By Tom Avril, Inquirer Staff Writer
Scholars have proposed a number of explanations for the muscle weakness and other ailments that plagued the Victorian poet Elizabeth Barrett Browning. But none of these after-the-fact diagnoses - from anxiety to tuberculosis - seemed to fit the symptoms perfectly. Now Pennsylvania State University researcher Anne Buchanan thinks she has cracked the case, as the result of an intensely personal connection. Her theory: The poet suffered from a rare condition called hypokalemic periodic paralysis, the same illness that plagues Buchanan's own daughter.
NEWS
July 29, 1999 | By Patricia M. La Hay, INQUIRER SUBURBAN STAFF
An inmate at the Bucks County correctional facility, who had been hospitalized with respiratory problems, was diagnosed with Legionnaires' disease, county commissioners said yesterday. The unnamed inmate was reported recovering and has been returned to the prison. County Health Director Lewis D. Polk said an environmental firm that specializes in microbial identification and remediation would be at the prison today to investigate the source of the disease. Legionnaires' disease - a serious and sometimes fatal bacterial infection that causes pneumonia and flu-like symptoms - is spread through moist air from contaminated water sources, such as air-conditioning systems, showers and whirlpool baths.
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BUSINESS
March 9, 2016 | By Linda Loyd, STAFF WRITER
CSL Behring, King of Prussia, said the Food and Drug Administration has approved its new intravenous treatment, Idelvion, for treating patients with Hemophilia B. The drug is a genetically-engineered albumin fusion protein linking recombinant coagulation factor IX with recombinant albumin to treat Hemophilia B, a rare disease that affects 1 in 25,000 male babies. The treatment, which can be self-administered by patients, will be the first on the market with up to 14-day dosing, the company said.
NEWS
February 29, 2016 | By Don Sapatkin, Staff Writer
As a group, "rare diseases" are far from rare: About 6,500 of them affect a total of more than 25 million Americans. Because each disorder afflicts so few patients, however, they generally are hard to study and costly to treat. Yet at a time when rising drug prices complicate nearly every area of medicine, rare-disease research holds important lessons for health care in general, says physician and geneticist Christopher P. Austin , director of the National Center for Advancing Translational Sciences at the National Institutes of Health.
SPORTS
December 24, 2015 | By Kate Harman, For The Inquirer
It is July, and Leanne Purcell is playing summer league basketball with her Notre Dame teammates, working out every day to prepare for her final year of high school. Later that same month, she's the maid of honor at her sister Jaclyn's wedding. Next, it is Aug. 30, and Purcell is in Ocean City, N.J., with her father, Michael. She's reading Their Eyes Were Watching God on the beach. But something isn't right; her stomach is bothering her. The pain isn't normal, and it isn't cramping, either.
NEWS
November 15, 2015 | By Lini S. Kadaba, For The Inquirer
Tamela Oglesby was gasping for air. "It felt like my last breath," the 35-year-old nursing assistant said, reaching for her throat as she recounted that night one year ago. "I thought I was going to die. My heart was just beating, really, really fast. " Figuring it would be the fastest way there, she took a bus to Pennsylvania Hospital's emergency room, a few blocks from her Northern Liberties apartment. A chest X-ray revealed the diagnosis that changed her life in ways Oglesby could not have expected.
NEWS
May 4, 2014 | By Reuben Kramer, For The Inquirer
'Hi, folks! Do you know what a freshwater amoeba is?" That's how Jeremy Lewis greeted attendees at the Brain Health Fair who ambled up to his booth last week at the Convention Center. Then he told them about the brain-eating parasite that killed his son. During the dog days of summer 2010, Kyle, 7, was playing in a Texas lake. At some point, a single-celled swimming monster "went up his nose and basically ate his brain," Lewis said from Booth 15. It happened fast. "Thursday morning, he had a headache.
NEWS
February 4, 2014
R AJIV MAHALE, 31, and Jonathan McEuen, 32, both of Center City, and Jake Boy, 26, of Roxborough, are co-founders of startup SpeSo Health at 17th and Walnut streets in Center City. SpeSo has an online platform for identifying and accessing top medical experts in 6,000 rare diseases so that health-care systems can create communities and share information. I spoke with Mahale, who earned a master's degree from Wharton. Q: How'd you come up with the idea for the biz? A: A family member was diagnosed with a rare blood cancer.
SPORTS
December 24, 2012 | By Phil Anastasia, Inquirer Columnist
Less than 10 minutes after making a game-winning, three-point play with two seconds remaining in overtime, Josh Borrelli was out the door of the Timber Creek gymnasium. He couldn't stick around to celebrate with his Shawnee teammates. He couldn't savor his role - a game-high 23 points, including all eight of his team's points in overtime - in the Renegades' 47-44 victory on Thursday night. He had to get to the tanning salon. "It's tough sometimes," Borrelli said later on Thursday night.
SPORTS
December 23, 2012 | By Phil Anastasia, INQUIRER STAFF WRITER
Less than 10 minutes after making a game-winning, three-point play with two seconds remaining in overtime, Josh Borrelli was out the door of the Timber Creek gymnasium. He couldn't stick around to celebrate with his Shawnee teammates. He couldn't savor his role - a game-high 23 points, including all eight of his team's points in overtime - in the Renegades' 47-44 victory on Thursday night. He had to get to the tanning salon. "It's tough sometimes," Borrelli said later on Thursday night.
NEWS
October 10, 2012 | By Kevin Riordan, Inquirer Columnist
As a civilian with the Army Corps of Engineers, Eric Majusiak was ready to respond to emergencies nationwide. In 2011, Majusiak, 28, was deployed to Joplin, Mo., after a killer tornado, and to Upstate New York in the wake of Hurricane Irene. But nothing prepared the burly outdoorsman and civil engineer for what happened in February. He was stricken by hemophagocytic lymphohistiocysis (HLH), a rare autoimmune disorder, and it nearly killed him. The South Harrison Township resident and his wife, Amanda, 25, are high school sweethearts but had been married for only a few months when he returned from a Salem County hunting trip with aching joints.
NEWS
July 30, 2012
Judy Nicholson Asselin is a middle school teacher and sustainability coordinator at Westtown School My handsome, intelligent, and remarkable son, Nathaniel, took his own life last year at the age of 24. For 13 years before his death, Nathaniel had suffered from body dysmorphic disorder (BDD), a severe brain disorder that affects an astonishing three million to five million Americans, striking most in adolescence. The BDD suicide rate is 45 times the rate found in the general population, according to one study, and twice the rate of those with severe depression or eating disorders.
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