It’s how I heard the historic moment “one day late and in German” as I was in Heidelberg with my crazy family camping in two VW buses on the Neckar River. It was one stop on my father’s round-the-world mission to bring newborn screening to other countries and take his wife and six kids along for the ride.
At the 2018 National PKU Alliance conference in Atlanta July 5-9, I’m meeting many people from the world over all striving to improve the lives of those affected by phenylketonuria — the disorder they know so well but is barely recognized outside the PKU circle of patients, families, clinicians, researchers and advocacy groups.
The University of Washington selected Dr. Michael H. Gelb to give the annual University Faculty Lecture Jan. 23, 2018. He’ll discuss his research passion toward helping infants born with lysosomal storage diseases. As part of the presentation, Dr. Gelb is also hosting round-table discussions with scientists, parents and others before his evening lecture.
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.
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 I would never meet another family affected, that the word Krabbe disease would never cross my path again. My son’s life had some kind of meaning. But when I looked up, I just saw this black hole.
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.