AT THE HEART OF A RARE DISEASE WITH MANY MOVING PARTS
Hosted by Erica Jolene and Kristyn Newbern | Transcription HERE
Luke is very intrigued by engines and he loves learning how things are built, connected, and the ways in which all the parts work together to function as a whole. Like the engines that Luke loves exploring, his rare condition involves a lot of interconnected and moving parts. Unlike the instructions or manuals that one might receive with engines and lego sets, there are no manuals or instructions for building the best parent for a child with a rare disease. Today we learn more about Luke's complex medical journey as Kristyn shares her experience navigating his rare diagnosis. Not only did Luke's diagnosis involve many interconnected and moving parts, so did Kristyn's evolution into life as a mother and caregiver to a child with complex medical conditions. In this episode, we touch on the challenges of that evolution as we share some of the lessons we have come to learn and some of the beliefs or assumptions that we've had to unlearn.
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Episode Transcription
Kristyn 00:01
What are the parts of a car engine?
Luke 00:05
I don't know.
Kristyn 00:07
There's the gears.
Luke 00:10
Ummhmm
Kristyn 00:11
What else?
Luke 00:13
The pipes.
Kristyn 00:15
The pipes...and the pistons.
Luke 00:16
Ummhmm
Kristyn 00:17
And what else?
Luke 00:19
The engine.
Kristyn 00:22
The engine.
Luke 00:22
And the gears. More gears in there. There is so many gears in there.
Kristyn 00:29
They're all turning, helping each other to turn.
Luke 00:31
Uhhuh. They're all connected and then, and go go go. Superfast that makes them go go fast. But when they un-connect, all of them un-connect, it makes the car stop and turn and crash!
Erica 01:07
Welcome to Season Two of Atypical Truth. I'm your host, Erica Jolene. Humans are storytelling beings. I created this podcast to amplify the stories of people in my community, the community of people with rare diseases, disabilities, and complex medical conditions. Not only will you hear from my peers in this community, but you will also hear the stories from family, friends, and professionals who advocate with us. In last week's episode, we got to meet the Newberns. Well, primarily Kristyn and Luke. Kristyn is a fellow medical mom to her son, Luke, who is that sweet little voice that greeted us today. Luke was born with congenital heart defects and later diagnosed with a rare genetic disorder called Noonan Syndrome.
Erica 02:01
When Luke was asked how he wanted to celebrate a recent trip to the doctor's office, Kristyn expected the stereotypical little kid answer of, I don't know, getting ice cream or going to the park. Instead, Luke stated that he wanted to open the hood of her car to check out the engine and all of its parts. You see, Luke is very intrigued by engines and he loves learning how things are built, connected, and the ways in which all the parts work together to function as a whole. Like the engines that Luke loves exploring with all the gears, pipes, valves, belts, and wires; Luke's rare condition, it involves a lot of interconnected and moving parts. And today, we're gonna learn more about Luke's complex medical journey, as Kristyn shares her experience navigating his rare diagnosis. Not only did Luke's diagnosis involve many interconnected and moving parts, so did Kristyn's evolution into life as a mother and caregiver to a child with complex medical conditions. In this episode, we touch on the challenges of that evolution, as we share some of the lessons we have come to learn and some of the beliefs or assumptions that we've had to unlearn.
Kristyn 03:37