Rare Disease

It became a compulsion. After listening to all the doctors' medical jargon, all those words without meanings, Dan Baldelli just needed to hold on to something. He chose a keypad. "It feels like I haven't been asleep in a couple of years," Baldelli said. "I would fall asleep and wake up in the middle of the night and look up doctors and Google everything I was hearing from [Rocco] to find some answers. " It was something, at least. With his son Rocco, a former first-round draft choice of the Tampa Bay Rays, grappling with unexplained muscle fatigue, Baldelli spent his nights typing away on his...

Shares of Shire PLC, an Irish drug maker with a big presence in Massachusetts, fell in London trading after it withdrew its US application for approval of the ITS Replagal drug for a rare genetic disorder. The Food and Drug Administration will require additional trials of Replagal to approve it as a treatment for Fabry disease, leading to a "significant delay" in clearance, the Dublin-based company said in a statement late Wednesday. The decision will not affect Shire's financial forecasts for this year, the company said.

Fifteen years ago, when Paul and Nancy Burke first learned their oldest daughter had Sanfilippo syndrome, it was so hard to find out anything about the rare but fatal degenerative disease that they relied on research from a Belmont neighbor who worked at Harvard University and had access to a medical library. Over the last decade and a half, as all three of their daughters were diagnosed with the syndrome, the Burkes decided to increase public awareness about the disease and raise money themselves to finance research.

A federal judge in Boston ruled yesterday, in a victory for 53 breast cancer patients, that their class action suit against the makers of diethylstilbestrol (DES) should not be dismissed but should be settled by mediation between the parties. The women allege that their exposure while in the womb to DES, which their mothers took more than 40 years ago to prevent miscarriages, led to their diagnoses of developing breast cancer. "Doctors need to know to give adequate care and ask the right questions to assess breast cancer risk in their patients; being a DES daughter is a big one,"...

WASHINGTON -- Liver transplants seem to be curing about a dozen children of a rare disease so unforgiving that the slightest dietary misstep can prove brain-damaging or fatal. Now instead of a life of fear with every bite of a strict low- protein diet, patients with maple syrup urine disease eat ice cream, hamburgers, and other normal children's fare. And doctors are studying whether the transplants help children who have had some brain damage get a little better in addition to averting problems.

Shares of Shire PLC, an Irish drug maker with a big presence in Massachusetts, fell in London trading after it withdrew its US application for approval of the ITS Replagal drug for a rare genetic disorder. The Food and Drug Administration will require additional trials of Replagal to approve it as a treatment for Fabry disease, leading to a "significant delay" in clearance, the Dublin-based company said in a statement late Wednesday. The decision will not affect Shire's financial forecasts for this year, the company said.

A federal judge in Boston ruled yesterday, in a victory for 53 breast cancer patients, that their class action suit against the makers of diethylstilbestrol (DES) should not be dismissed but should be settled by mediation between the parties. The women allege that their exposure while in the womb to DES, which their mothers took more than 40 years ago to prevent miscarriages, led to their diagnoses of developing breast cancer. "Doctors need to know to give adequate care and ask the right questions to assess breast cancer risk in their patients; being a DES...

A new center at the Massachusetts Institute of Technology will focus on unraveling the neuroscience that underlies social behaviors, helping push forward research and treatment of autism spectrum disorders. The new Simons Center for the Social Brain is funded by a $26.5 million gift from the Simons Foundation, a nonprofit organization that supports science and mathematics research and has already provided $15 million to the university to support autism research. Autism spectrum disorders encompass a range of disorders that vary in their severity and affect an estimated one...

BALTIMORE -- Dr. Hugo Wolfgang Moser, a neurologist whose work with a rare disorder was depicted in the 1992 movie "Lorenzo's Oil," has died. He was 82 and had been undergoing treatment for pancreatic cancer. Dr. Moser, who died Saturday at Johns Hopkins Hospital, researched childhood mental retardation and advocated testing all newborns for the condition known as adrenoleukodystrophy , or ALD. His professional posts included director of the Neurogenetics Research Center at the Kennedy Krieger Institute and professor of neurology and pediatrics...

LONDON - Syphilis, the sexually transmitted disease long associated with 19th century bohemian life, is making an alarming resurgence in Europe. "Syphilis used to be a very rare disease," said Dr. Marita van de Laar, an expert in sexually transmitted diseases at the European Centre for Disease Prevention and Control. "I'm not sure we can say that anymore. " Most cases of syphilis are in men, and doctors point to more risky sex among gay men as the chief cause for the resurgence.

A new center at the Massachusetts Institute of Technology will focus on unraveling the neuroscience that underlies social behaviors, helping push forward research and treatment of autism spectrum disorders. The new Simons Center for the Social Brain is funded by a $26.5 million gift from the Simons Foundation, a nonprofit organization that supports science and mathematics research and has already provided $15 million to the university to support autism research. Autism spectrum disorders encompass a range of disorders that vary in their severity and affect an estimated one in 110...

Fifteen years ago, when Paul and Nancy Burke first learned their oldest daughter had Sanfilippo syndrome, it was so hard to find out anything about the rare but fatal degenerative disease that they relied on research from a Belmont neighbor who worked at Harvard University and had access to a medical library. Over the last decade and a half, as all three of their daughters were diagnosed with the syndrome, the Burkes decided to increase public awareness about the disease and raise money themselves to finance research.

PROVIDENCE - More Rhode Islanders are testing positive for a little-known tick disease that is related to malaria, health specialists said yesterday. Babesiosis, once more commonly called Nantucket fever, is caused by a microscopic parasite transmitted by the bite of a deer tick. Healthy individuals may show no symptoms, though others might suffer from flulike complaints. But the disease can be life-threatening for the elderly or for people with weakened immune systems. Just 15 years ago, Rhode Island averaged less than one confirmed case of babesiosis...

FORT MYERS, Fla. - Trash talk already had begun flying in the Red Sox locker room yesterday, which is what one would expect from any competition including Dustin Pedroia. As players leaving for the World Baseball Classic packed their bags and prepared to scatter, Pedroia - ever a practitioner of gamesmanship - needled the teammates who soon will become his opponents. "He told me to pack one pair of underwear," Jason Bay said. The Red Sox bid a temporary farewell to some of their most significant pieces as players traveled to report to their respective WBC squads.

It became a compulsion. After listening to all the doctors' medical jargon, all those words without meanings, Dan Baldelli just needed to hold on to something. He chose a keypad. "It feels like I haven't been asleep in a couple of years," Baldelli said. "I would fall asleep and wake up in the middle of the night and look up doctors and Google everything I was hearing from [Rocco] to find some answers. " It was something, at least. With his son Rocco, a former first-round draft choice of the Tampa Bay Rays, grappling with unexplained muscle fatigue, Baldelli spent his nights...

LONDON - Syphilis, the sexually transmitted disease long associated with 19th century bohemian life, is making an alarming resurgence in Europe. "Syphilis used to be a very rare disease," said Dr. Marita van de Laar, an expert in sexually transmitted diseases at the European Centre for Disease Prevention and Control. "I'm not sure we can say that anymore. " Most cases of syphilis are in men, and doctors point to more risky sex among gay men as the chief cause for the resurgence.

FORT MYERS, Fla. - Trash talk already had begun flying in the Red Sox locker room yesterday, which is what one would expect from any competition including Dustin Pedroia. As players leaving for the World Baseball Classic packed their bags and prepared to scatter, Pedroia - ever a practitioner of gamesmanship - needled the teammates who soon will become his opponents. "He told me to pack one pair of underwear," Jason Bay said. The Red Sox bid a temporary farewell to some of their most significant pieces as players traveled to report to their respective WBC squads.

BALTIMORE -- Dr. Hugo Wolfgang Moser, a neurologist whose work with a rare disorder was depicted in the 1992 movie "Lorenzo's Oil," has died. He was 82 and had been undergoing treatment for pancreatic cancer. Dr. Moser, who died Saturday at Johns Hopkins Hospital, researched childhood mental retardation and advocated testing all newborns for the condition known as adrenoleukodystrophy , or ALD. His professional posts included director of the Neurogenetics Research Center at the Kennedy Krieger Institute and professor of neurology and pediatrics at the Johns Hopkins University...