Ep 132 Osteogenesis Imperfecta: All bones about it

This Podcast Will Kill You

Exactly Right and iHeartPodcasts

Health & Fitness, Science

4.8 • 17.1K Ratings

🗓️ 2 January 2024

⏱️ 86 minutes

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Summary

Often, the more we learn about a disease, the more we learn about ourselves and the world around us. The story of the genetic disorder osteogenesis imperfecta (OI), colloquially known as brittle bone disease, illustrates this perfectly. As researchers continue to uncover the mechanisms responsible for OI development and progression, the better we understand the varied and crucial roles collagen plays in all parts of our biology. As historians attempt to trace how that knowledge has accumulated over time, the more we can clearly see how science rarely progresses consistently but rather erratically and is prone to interruption. And as we assess where we are with OI treatment and research today, the more apparent the gap is between knowledge and application, and just how critical lived experiences are in understanding a disease. In this episode, we explore these aspects of osteogenesis imperfecta, and we are thrilled to be joined by Natalie Lloyd, who shares her experience with OI as our firsthand account. Natalie is a New York Times bestselling author of novels for young readers, whose recently published award-winning book Hummingbird tells the story of a young girl with OI. Heartwarming, magical, and brilliant, this wonderful book is a must-read. Tune in today!

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Transcript

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0:00.0	So the day I was born had some quirks.
0:03.2	First, it was the most beloved of National Holidays, Groundhog Day.
0:08.7	It was an Appalachian February full of blestary snow.
0:12.3	And this is my favorite part.
0:13.6	My dad's truck broke down on the way to meet my mom
0:16.3	at the hospital, so he caught a ride with my uncle Tommy
0:18.9	and their good buddy, Peanut.
0:21.1	That's all fine, not atypical, but there was one specific quirk about that day that's important.
0:27.0	I was born with a broken collarbone.
0:30.0	At the time, this was not super concerning.
0:32.8	The concerning part happened 10 weeks later
0:35.8	when I was kicking around in my crib, just doing my baby thing,
0:39.6	and my mom heard a snap and a screen.
0:43.3	She rushed me to the ER and the x-ray showed a broken femur.
0:47.6	To make the long story short, way shorter,
0:49.9	because you can imagine the questions my parents had to answer about that.
0:54.0	I was eventually diagnosed with a rare bone disease called osteogenesis imperfecta,
0:59.2	which we call OI or brittle bones for short because osteogenesis and perfecta is a mouthful. I was
1:06.0	born in 1981 and I think at the time there were just a few types now there are even
1:11.4	more ranging from incredibly severe to very mild. Mine is a mild form.
1:17.0	Mostly my oh y seems to affect the long bones of my legs. I've broken my femurs numerous times which is not a bone
1:25.3	that typically breaks without major efforts and even though my bones are the most
	...

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