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OHSU part of network established to help those with rare disorders





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OHSU part of network established to help those with rare disorders

Groups funded by the National Institutes of Health band together to establish a system to study rare diseases across the country.
View full sizeBeth Nakamura/The OregonianKatie Lucas is always "going, going, going" according to her mother, Kathy Lucas, who keeps a watchful eye on her. In 1964, three young boys caught the attention of doctors at the University of Wisconsin Medical School. The boys showed poor growth and severe developmental delays, and though unrelated, they shared a nearly identical pattern of birth defects, including cleft palate and extra fingers and toes. It took nearly 30 years for researchers to identify the underlying cause of the rare syndrome: a defect in a single gene that blocks the assembly of cholesterol, an essential building block of cell membranes and the brain's white matter. But despite that pivotal 1993 discovery, doctors still haven't developed a proven way to help children born with the disorder, called Smith-Lemli-Opitz syndrome. Kathy and Scott Lucas of Portland have a 5-year-old daughter, Katie, who wasn't diagnosed until months after her birth. Katie showed none of the severe symptoms, but during her first weeks she fell behind on several growth milestones. She struggled to nurse effectively, lost weight, and lacked strength and coordination for her age. Now at school age, she lags in cognitive development. What's been most difficult, her mother says, "is having no proven, real treatment out there for her, and having it all be in studies. But also it's not knowing what to expect for her future, not having the answers you would have for a more common disease