Season 2 Ep. 1 | "When Are You Going To Treat My Child?"

This is a story about rare disease history. Phenylketonuria, or PKU, was the first rare disease detected and diagnosed through newborn screening. And this story is from those early days—it's about the development of the first treatment for PKU in Birmingham, UK during the 1950's.

But while that story is often told from the perspective of the doctors who developed the treatment, this story is from a different perspective.

It’s about one mother—Mary Jones—and her relentless determination to get help for her daughter.

And it’s about her daughter—Sheila Jones—who could not communicate verbally but whose life and experiences paved the way for an entire generation of those affected by PKU. And newborn screening. And all rare diseases.

I consulted with Professor Anne Green, author of the book “Sheila: Unlocking the Treatment for PKU”, Birmingham Children’s Hospital in the UK, and the ESPKU to tell this story. If this story helps you in some way, please consider purchasing the book. All proceeds go to the Birmingham Children’s Hospital Charity, who funded the book’s production and own the copyright.

I also consulted with the European Society for PKU and Allied Disorders Treated as Phenylketonuria, or ESPKU, to tell this story.

While this story is from my rare disease community, it’s one I hope will encourage or inspire anyone affected by rare disease.

Transcript Available

A transcript of this episode is available on my blog.

About Never Give Up: A Rare Disease Podcast

This is a storytelling podcast exploring the intersection of life, mental health, and rare disease. Sometimes I interview guests, but mostly… I just want to tell you some stories. Stories about hope. Perseverance. Self-worth. Self-care. Stories that hopefully inspire you to keep going. And to never, never, never give up.

Contact Kevin Alexander

Website: PKUJournal.com

Instagram: @kevinalexander_pku

Facebook: @pkujournal

Email: kevinalexander@pkujournal.com