Caring for rare podcast: season 1, episode 1

Raising Young Children With PKU – An Interview With Lacy Shaffer And Julie Bolduc Defilippo

Left: Lacy (second from left) and her family. Right: Julie (back row, right) and her family.

Nutricia North America’s new podcast – Caring for Rare – explores what life is like with a rare metabolic disorder such as phenylketonuria (PKU), maple syrup urine disease (MSUD), and homocystinuria (HCU). Episodes feature families’ personal stories of inborn errors of metabolism. Our guests on the show share their difficulties at diagnosis, changes they made to adapt to condition management, everyday joys, and more.

Though these disorders are rare, it is possible to find community and support. We hope you’ll feel comfort and connection in the stories of Caring for Rare.

Listen now, or find Caring for Rare on Apple, Google Podcast, Amazon music and other podcast hubs!

Note: the interviews and anecdotes featured in these podcast episodes may not be representative of all rare metabolic disorders, and this podcast in no way replaces the guidance and supervision of metabolic healthcare professionals. Always consult your metabolic healthcare team prior to making any changes to diet or condition management. Guests on Caring for Rare are compensated for their time.

Here’s an excerpt from Lacy and Julie’s interview in Episode 1, Season 1 of Caring for Rare:

LACY: Right on. I agree. How did it feel when you got [Johnny’s phenylketonuria] diagnosis?

JULIE: The world just came crashing down. We were just so scared. We felt like we were in good hands, but we were really just unsure of what this meant for his future. And I’ll always remember the doctor said to us, you know, every hope and dream you’ve ever had for your child is still going to come true. And that really stayed with me.

LACY: Even though I had been one already, I felt like a first time mom again, because now I have a child that has a disorder that not only I don’t know much about, but the entire world isn’t familiar with. And then the isolation… it’s a lot to try to do right.

JULIE: Right.

LACY: And there’s no right way.

JULIE: Was there a turning point for you when things got better?

LACY: I think for me, it was when I started seeing [Aspen] become an actual human and not a baby. When I saw her start interacting with us, with her brother, with other people, when I would tell someone and they’re like, wait, that baby does not have anything wrong with her. Like, I needed to be slapped in the face. The only one making it about PKU at this moment is you.

JULIE: Yeah, I definitely think, like seeing Johnny hit his milestones was very reassuring, and I think to a PKU parent becomes even more meaningful. I actually got on camera the first time he sat up and you would have thought he’d gotten into Harvard how excited I was! And he was just sitting up and laughing and I was like over the moon [at] every milestone.

LACY: This kid’s going places! [Laughter]

Listen to the full episode to hear all of Lacy and Julie’s thoughts and insights into raising Johnny and Aspen. You can find Caring for Rare on Spotify, Apple, Google Podcast, Amazon Music and other podcast hubs. Stay tuned for more Caring for Rare episodes!

Caring for Rare: Stories of Rare Metabolic Disorders is brought to you by Nutricia North America. It was produced by Alletta Cooper, Ulrike Reichert, and Kate Miley. Transcript available here.

Always consult your metabolic healthcare professional team prior to making any changes to diet or condition management.

© 2021 Nutricia North America

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