PKU: A Life-Giving Diagnosis

An episode of the Patient Stories with Grey Genetics podcast, hosted by Grey Genetics, titled "PKU: A Life-Giving Diagnosis" was published on November 27, 2018 and runs 43 minutes.

November 27, 2018 ·43m · Patient Stories with Grey Genetics

Summary

Kevin Alexander is a professional videographer. He also has an inherited metabolic condition, PKU (phenylketonuria). Thanks to Newborn Screening, Kevin was diagnosed with PKU just 9 days after birth and immediately put on dietary treatment. With a carefully monitored diet, Kevin has been able to live an otherwise normal life. In the 1960s, PKU was the first condition to be tested for as part of Newborn Screening. Newborn screening now includes up to 60 disorders, depending on the state, and can provide a timely and life-saving diagnosis for many infants. Through multiple video projects, Kevin has worked to raise awareness of PKU and of Newborn Screening more broadly. He is now also starting a podcast related to PKU! Watch for the first episode on PKU Awareness Day (December 3) and regular episodes starting in January. Interview Reference Points: What is PKU? Why is it diagnosed through Newborn Screening (NBS) and how is it treated?@ 1:40 Kevin’s diagnosis with PKU and ongoing management by metabolic team at Tulane @ 6:34 Feeling the difference of PKU @ 11:03 Living with PKU as an adult and the benefit of newer medications @ 14:54 In 2011, Kevin releases a short documentary My PKU Life and becomes more involved in PKU and NBS advocacy @ 16:44 Social Media as a tool for connecting with other people with PKU @ 18:48 Life with untreated PKU and the life that NBS has made possible - @ 20:06 Parents’ Privacy Concerns and Newborn Screening (NBS) @ 23:00 PKU support system on Facebook @ 27:46 The Medical Nutrition Equity Act @ 31:20 Meeting Katy and her family: a late PKU diagnosis @ 35:41 Links and Resources Kevin’s Facebook page Kevin’s short documentary My PKU Life Kevin’s documentaryFor Katy Kevin’s short documentary Kevin's YouTube Channel Kevin featured in a recent CRM Studios blog post National PKU Alliance More on Newborn Screening: Baby’s First Test More on the Medical Nutrition Equity Act Kevin's new podcast! PKU Life Podcast with Kevin Alexander PKU Life Podcast Facebook page PKU Life Podcast on Twitter@PKULifePodcast PKU Life Podcast on Instagram @pkulifepodcast Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. <a href=htt

Episode Description