Rare Disease

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.

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.

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.

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.

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.

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.

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.

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.

Scientists at the University of Pennsylvania have discovered for the first time the exact cause of a neuromuscular disease. The finding could one day lead to treatments for millions of Americans suffering from degenerative diseases, including Alzheimer's, Parkinson's and Lou Gehrig's diseases and Huntington's chorea, the researchers said. The scientists discovered a genetic defect that causes the body to make proteins poisonous to nerve cells. "This is a very significant development," said Lawrence Stern, a medical consultant for the Muscular Dystrophy Association, which helped fund the research.

A few drops of Marie Noe's blood could determine whether the deaths of her children were murder, or medical malady. That's the opinion of genetic researchers in California who believe that Noe - the Philadelphia woman whose 10 children died as infants - could suffer from a rare, inheritable, hard-to-diagnose metabolic disease that sometimes results in the sudden death of the mother's children. The children were born between 1949 and 1968. One child was stillborn; another died six hours after birth.

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.

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.

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.

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.

Five years ago, a passionate mother-turned-activist chatted up her tablemate at a conference for people with genetic diseases. Little did Vicki McCarrell, now of central Missouri, know that she was pitching new research to Francis Collins, director of the groundbreaking Human Genome Project and the future head of the National Institutes of Health. On Friday, at McCarrell's invitation, Collins was at the Sheraton Philadelphia serenading a room full of people affected by Moebius syndrome.

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.

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.

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.

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.

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.