“Doomed by Delay:” Newborn screening ‘mandate’ fails
Rare Krabbe disease focus of Emory conference
Newborn Screening in the News An excellent special report by the Chicago Tribune was recently published online. It details how five babies in Illinois born with Krabbe disease suffered from being undiagnosed and untreated despite the state mandating in 2007 that the genetic disease be added to its newborn screening panel. Slow-moving bureaucracy and a “byzantine procurement process” are blamed; Gov. Bruce Rauner appears ready to intervene. The article quotes Dr. David Jinks, former chief of the Illinois Newborn Screening Lab, who was also.
Lifting the Limits fundraisers top $1.5 million for PKU
Heartbreak of Krabbe disease: A mother’s story “My son’s life had some kind of meaning. But when I looked up, I just saw this black hole.” Anne Rugari She buried her year-old son that day, sat on her front porch that night and stared at the sky. “Looking up at the stars, I thought, ‘I know that I am not the only person this has ever happened to. I know there must be other families out there.’ But the doctor had said.
Newborn screening’s ‘hero’ honored
Another $500,000 is headed to the National PKU Alliance Fund, established to support research for new treatments and, ultimately, a cure for the genetic disorder. With four “Lifting the Limits” fundraising events in various cities over the past year — the latest being in Seattle on Oct. 8 — a total of $1.5 million has been raised. Future events are being planned in Buffalo, Princeton, Denver, New York City, Cleveland, Philadelphia and Chicago. Small airplanes and military jets hung overhead the 300 diners at.
Guthrie Memorial Dinner
Poland Celebrates Dr. Robert Guthrie Many PKU patients in Poland gathered with Prof. Maria Giżewska MD, PhD of Pomeranian Medical University on June 25 to recognize the 100th anniversary of the birth of Dr. Robert Guthrie. He’s the American scientist whose heel-stick blood test led to the successful early treatment of the genetic disorder, Phenylketonuria or PKU, sparing thousands worldwide from developmental disability. “Robert Guthrie is an example of a man who positively influenced lives of so many people worldwide,” said Prof. Maria.
Bob Guthrie’s Gift of Gab
Dr. Bob Guthrie’s other invention: Peanut butter and tomato On Dad’s 100th birthday anniversary, June 28, 2016, my sisters and oldest brother gathered in Seattle and ate and drank some of Bob Guthrie’s favorite foods: cornbread dipped in buttermilk with a dollop of honey, peanut butter and tomato and a shot or two of Scotch. Bob Guthrie claims the “invention” of open-face peanut butter and tomato sandwiches on wheat bread because no one else would admit to foisting this combo on the.
Happy Birthday Dad!
By Patricia Guthrie My father talked. Boy, did he talk. About newborn screening. Constantly. Day, night, at the dinner table, the breakfast table, in the wee hours of the morning, over cocktails, in church pews, at school board meetings and to the many unfortunate passengers sitting next to him on overseas flights. Everywhere. Anywhere. The conversation was about how children’s lives could be drastically altered with newborn screening. In the early days, the talk was about one cause of mental retardation, phenylketonuria,.
By Patricia Guthrie Happy Birthday Big Tree! How I wish you were still around for all your kids to sing to you today on your 100th birthday, June 28, 2016. But I’m not sure we could deal with you in this day and age of the Internet, social media, 24/7 communications and the ubiquitous telephone/camera/computer gadgets that no doubt would capture your attention beyond all reason. An example of this new world is today’s virtual Robert Guthrie Memorial Dinner. A few years.