Running 372 miles, Bristol to Newcastle for PKU fundraising

It’s a stretch of tarmac, and trail most of us only see through a windscreen—yet Ian will cover every metre on foot to raise money for NSPKU (Phenylketonuria)

From Diagnosis to Advocacy: What Rare Disease Teaches Us About CME

How do we create continuing education that prepares clinicians to deliver life-changing diagnoses with both precision and compassion? In this episode, we explore wh…

Rare Creatives’ Lives: Storytellers on Rare Disease In the Arts | LinkedIn

Rare Creatives’ Lives: Storytellers on Rare Disease in the Arts ~LinkedIn Live Event Celebrating PKU Awareness Month~ May 23, 2025 at 1PM ET Featuring Guest Creatives: Kevin Alexander (US), Producer, Writer of documentary film Kurt Sensenbrenner (US), Producer of animated documentary web series Pauline O’Connor (UK), Author, Publisher of the Living With… book series Jennifer J. Brown (US), Author, Scientist, Publisher With Host: Lillian Isabella (US), Storyteller, Playwright, Producer Insights On: 1. Who first inspired them to become creatives? 2. What are their creative processes like now? 3. How storytelling shares rare disease lived experience? 4. Advice for those who dream of a creative career? 5. Why storytellers can spark advocacy in a rare disease community? Guest Speakers: 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. His media projects include a short documentary called "My PKU Life" about his experience with PKU, a short film called "For Katy" which illustrates the impact of a delayed PKU diagnosis and the importance of newborn screening, and he currently writes for his website, PKUJournal.com. 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. Kurt Sensenbrenner is a freelance director, producer, and cinematographer who happens to have PKU. His documentary work can be seen on some of the most influential platforms including peacock, PBS, and More Perfect Union. Kurt’s most recent collaborations have been with Patton Oswalt, NBC, and the Patton Veterans Project. In 2017, his debut feature length documentary “From Mass to the Mountain” aired on PBS and helped cause legislative change in Eastern Panama, where the documentary takes place. In 2020, Kurt created an animated-documentary-comedy series about living with PKU, “The Low Phe Life”. Twelve episodes and 40+ screenings later, he’s in negotiations for a third season! Stay up-to-date by following the series at lowphelife.com Pauline O'Connor is an author of fiction and non-fiction, and a patient advocate. She campaigns for brain injury survivors, and for those diagnosed with the rare disease, phenylketonuria (PKU). A brain injury ended Pauline’s successful careers in winemaking and education. Now, she pursues her passions for advocacy and writing. “Living with PKU: A Low Protein Life with Phenylketonuria” (2022) is a valuable resource for adults and teens with PKU, or for families new to the disorder. Her fiction short stories, “The Red Hat Stories: An Anthology” published in 2024. Jennifer J. Brown is an independent author and publisher with a passion for nature, science and family. Her latest book is “When the Baby Is Not OK: Hopes and Genes”, a memoir on childbirth and parenting of two daughters diagnosed with PKU. She has a PhD in genetics from SUNY Stony Brook in New York for research at Cold Spring Harbor Laboratory and has published genetics, medical education and public health works in leading scientific and professional journals. She is currently a mentor for people living with PKU, and their caretakers, at the nonprofit National PKU Association. Lillian Isabella is a playwright, producer, and performing artist from The Bronx. She holds a BFA in Theatre from NYU, Tisch School of the Arts. Lillian uses verbatim documentary theatre as a vehicle to amplify ‘other’ voices and transmute personal pain into collective power. Her plays have been produced and developed in NYC at The Tank, Cherry Lane Theatre, Metropolitan Playhouse, NYC Fringe Fest, Nuyorican Poets Poets Cafe, The NYC Health Department, and the United Nations. Recent productions include, PRIMORDIAL (The Tank - Core Production / NYC), HOW WE LOVE/F*CK (Cherry Lane Theatre / NYC – Finalist, Screencraft Film Fund), THAT’S HOW ANGELS ARRANGED (Metropolitan Playhouse / NYC). Lillian is a proud member of SAG-AFTRA, AEA, and The Dramatists Guild. #PKU #RareDisease #PKUAwarenessMonth #PublicHealth

Ensuring prescriptions on the NHS for PKU special foods

Challenges to our treatment regime shouldn’t happen. Sadly, this isn’t an ideal world. These questions are annoying and exhausting, and it is important to be firm and clear in your response.

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