Phenylketonuria is an inherited long term condition where, from birth, the person is unable to break down an amino acid called phenylalanine, a component of proteins found in many common foods. If undiagnosed or untreated, the condition can disrupt normal brain development and lead to severe learning difficulties. There is no cure for PKU, but early diagnosis and a strict dietary regime allow both normal brain development and a full life span. In this collection, 18 year old Clair and 17 yea ...

Nutricia’s Caring for Rare explores what life is like with a rare metabolic disorder – from difficulties at diagnosis to adapting to condition management to thriving in everyday joys. Episodes feature personal experiences with rare inborn errors of metabolism like phenylketonuria (PKU). These stories may not be representative of all rare metabolic disorders, and this podcast in no way replaces the guidance and supervision of metabolic healthcare professionals. Guests on Caring for Rare are c ...

Everyone in the rare disease community has a story and every individual, every parent, every caregiver has a unique story to tell. Insightful Moments: My VIBE is here to tell those stories. We want to tell YOUR real-life stories and experiences from the rare disease community to inspire and remind listeners that we’re all in this together.

This podcast is about the advancement of rare disease research told by health professionals, researchers, parents, and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen.

Did you know that one of the most important public health programs, one that impacts the lives of our newborn babies, is largely unknown to the public at-large? The practice of screening all newborn babies at birth, for metabolic and a variety of other disorders, is something that most parents probably don’t ever think about, nor do they usually receive the test results. Why do advancements in newborn screening, that affect the health and well-being of our children, seem to be a mystery to s ...

This Pathological Life Podcast Every disease has its own story to tell - Dr Travis Brown The podcast series “This Pathological Life” brings to life the spectrum of general pathology topics by delving into each through the lens of historical aspects of disease, community impact of chronic illness, study or research threads, and topical areas of interest. Podcast host Steve Davis is joined by our resident Pathologist Dr Travis Brown. Dr Travis Brown is a General Pathologist who enjoys working ...