Lifting the Limits for PKU in the Mile High City
Phenylketonuria — PKU, for short — is a rare disease that can be as brutal as it is hard to pronounce.
It affects one’s ability to process protein, and is diagnosed in the first few days of life through the federally mandated Newborn Screening Program. Infants who are found to have PKU are immediately placed on a restrictive, low-protein diet that they must follow for the remainder of their life.
Those who are untreated, or poorly treated, can suffer irreversible brain damage and neurological complications that include IQ loss, memory loss, seizures, learning disabilities and emotional problems.
It is believed that approximately 16,500 people are living with it in the United States today.
An opportunity to learn more about PKU — and to raise money for research — came when Emele Porter and Michelle Francis chaired Lifting the Limits for PKU in the Mile High City, a dinner, auction and dance with “60 Minutes” correspondent Scott Pelley as the special guest.
Pelley served as master of ceremonies at the May 5 event and noted that while there are many unanswered questions when it comes to treating PKU, “The one thing that we do know is that research dollars work.”
Research such as that conducted in Dr. Cary Harding’s lab at the Oregon Health and Science University and at the University of Colorado School of Medicine and Children’s Hospital Colorado.
“We’re not giving up, and neither should you,” said Daelyn Richards, who had flown in from Portland to share updates on Harding’s gene therapy research with the 400-plus attending this fundraising gala held at Seawell Ballroom in the Denver Performing Arts Complex.
Laurie Bernstein, a professor in the Department of Pediatrics and director of the IMD Nutrition Clinic at the CU School of Medicine and Children’s Hospital Colorado, also spoke. She holds the patent for a low-protein bacon that is now distributed by Taste Connections and is a co-founder of Metabolic University, a training forum for registered dietitians, nurses, genetic counselors and medical doctors.
PKU patients, she said, always feel hungry but are limited in what they can eat. They experience fatigue, irritability, lack of focus and anxiety — things that one day can be minimized or cured through research.
In their welcoming remarks, Porter and Francis expressed their appreciation for the National PKU Alliance for its devotion to the cause. “Because PKU is such a rare disease, it would be impossible for our families to receive the information, connections, advocacy and scientific engagement that we do today without the PKU Alliance’s leadership. Their staff may be small, but their work is mighty.”
The event raised $400,000, thanks to a year-long planning effort led by Porter, Francis and a committee that included their husbands, Adam Porter and Bodie Francis; Kevin Alexander; Christine Brown; Kathy and Steve Friedl; Andrea Burolla Golod; Ginny and Dick Michaux; Michelle Pernsteiner; Alison and Kai Reynolds and Katrina Swenson.
Candace Bailey, Laurie Bernstein, Jessica and Brandon Blood, Vane Chavez, Trina Faatz, Donna Galecki, Kathleen Hoxworth, Matthew Hyzy, Dave and Jeannie Moffett, Melanie Moffett, Peter and Nina Neill, Erin and Jason Nelson, Dennis and Terry Porter, and Debra Stevenson were among those on the evening’s host committee.
The National PKU Alliance also benefits from similar events held in such cities as New York, Seattle, Cleveland and Nashville. In addition, the Creighton Farms Invitational hosted by golfer Jack Nicklaus splits its proceeds between the National PKU Alliance and the Nicklaus Children’s Health Care Foundation.