In this conversation, Kevin Alexander shares his personal journey living with PKU (phenylketonuria) and his passion for newborn screening advocacy. He discusses the importance of dietary therapy, the challenges of navigating insurance coverage for treatment, and the critical role of newborn screening in early detection. We discuss the recent policy changes enacted without warning by the current administration and how that impacts newborn screening practices. Kevin shares personal stories and experiences that highlight the need for advocacy and community involvement in maintaining and improving the newborn screening system.

Key Takeaways:

• PKU is an inborn error of metabolism that requires lifelong dietary therapy.
• Newborn screening is crucial for early detection of PKU to prevent brain damage.
• Newborn screening includes a simple blood test to evaluate for various conditions.
• The recommended uniform screening panel (RUSP) guides which diseases are screened.
• Recent policy changes threaten the inclusion of new conditions in newborn screening. The newborn screening system is crucial for public health.

Kevin Alexander is an adult living with PKU. He's also a filmmaker, and since 2012 has been traveling the world as a PKU, newborn screening, and rare disease advocate. He's a volunteer for the National PKU Alliance, an advocate with the Louisiana Metabolic Disorders Coalition, and a member of the International Society of Neonatal Screening.

You can find him online at:

IG: @kevinalexander_pku

FB: www.facebook.com/pkujournal

LinkedIn: www.linkedin.com/in/kevinalexander/

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Here are more resources related to today’s topic:

• My PKU Life | A Short Film about My PKU Experience
• Regaining Hope: My Journey to Rare Disease Advocacy | A Podcast Episode about the intersection of life, rare disease, and mental health
• Newborn Screening Is A Human Right | A blog article with Kevin’s thoughts on the termination of the Advisory Committee on Heritable Disorders in Newborns and Children
• The National PKU Alliance
• Baby’s First Test- information on newborn screening
• National Organization for Rare Disorders
• Original landing page for the Advisory Committee on Heritable Disorders in Newborns and Children
• The Recommended Uniform Screening Panel or RUSP
• Hunters Hope- non-profit for Krabbe and other leukodystrophies, as well as newborn screening starting by Jim and Jill Kelly
• For Katy: A Film About Newborn Screening
• For more information on rare disease, listen to episode 10- When is rare disease not so rare?

Any inquiries on the podcast can be sent to [email protected]

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.