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Joining forces to understand a rare disorder
Thursday, Sept. 17, 2009
By Judith Van Dongen, WSU Spokane
A few years ago, assistant professor of speech and hearing sciences Nancy Potter spent her summers traveling across the country to study children with galactosemia, a rare and potentially lethal genetic disorder that makes milk toxic to the body and causes damage to the brain and other organs (see earlier article here). Potter’s interest was in the speech and language disorders that occur in the majority of these children.
Although her research and that of colleagues from around the globe have shed some light on the extent of the problems faced by galactosemia patients, much is still unknown about the progression of this rare disease.
“One of our big questions is whether it is a neurogenerative disease,” said Potter. “Do people get worse over time?”
That’s why last month she joined an international team of researchers in Boston to be part of the first-ever multidisciplinary study of adults with galactosemia.
The initiative for the study came from Parents of Galactosemic Children, the patient advocacy group that provided the primary funding for the project. The group took their request to a physician at Boston’s Children’s Hospital, Dr. Gerard T. Berry, who put together a team. It included researchers from Harvard Medical School, the University of Miami and Maastricht University in the Netherlands, in addition to Potter, WSU colleagues Leslie Power and Amy Meredith, and EWU colleague Roberta Jackson.
Over the course of two days, each patient was given a battery of different tests that included physical exams, nutritional analysis, IQ tests, fertility testing and speech-language testing. A total of 34 patients - ranging in age from 18 to 59 years - took part in the study, making this the largest clinical study of adults with galactosemia conducted to date.
“Prior to the 1970s, very few people with galactosemia lived to adulthood because we didn’t do the newborn screening - the heel poke - so we’ve never before had a big group of adults who have the disease,” Potter said. A few of them had never met anyone else afflicted with galactosemia, she said.
Patients flew in from as far away as California and Texas, paying their own travel expenses just to participate. The researchers secured additional funding from each of their institutions to pay for their travel expenses - Potter received support from WSU Spokane in the form of a faculty seed grant.
In the next few months, Potter and her fellow researchers will be busy analyzing data and sharing information on the study, which they see as a pilot to a longitudinal study they hope to conduct in the future. Thanks to their efforts, parents of newborns diagnosed with galactosemia may some day have a much better idea of what the future holds for their children.