The Unseen Battles of a Miracle Child and His Mother: CHARGE Syndrome/17p13.1 Microduplication Syndrome

Sickboy

CBC

Society & Culture

4.8 • 524 Ratings

🗓️ 22 January 2024

⏱️ 61 minutes

🔗️ Recording | iTunes | RSS

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Summary

What happens when life throws a curveball straight after the final inning? This Monday, the boys sit down with Alexis Simon, a superhero mom who's been catching life's toughest pitches. After a picture-perfect pregnancy, Alexis's world turned upside down when her son, Theo, was born with a constellation of rare and complex health issues. Imagine finding out your newborn, who seemed perfectly healthy, is suddenly fighting for life with a ticking clock. Alexis opens up about the rollercoaster of being admitted to the hospital during the pandemic for Theo's failure to thrive and the evolution of family support through this journey. Theo, a little warrior with a heart as mighty as his challenges, has been to the OR 23 times, yet his superpower is his unyielding happiness. Despite battling CHARGE syndrome, a one-in-six-billion rarity, and a relentless form of epilepsy, his smile remains undefeated. As Theo approaches his fourth birthday, Alexis shares the story of his heart - both the literal hole and the metaphorical fullness of it. Strap in for a tale of love, resilience, and the unbreakable bond between a mother and her extraordinary son. *17p13.1 microduplication syndrome is a rare genetic condition characterized by a variety of symptoms. Only a few cases have been reported in the literature, and as such, it is not fully understood. Join the post-episode conversation over on Discord! https://discord.gg/expeUDN

Transcript

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0:00.0	You know that feeling when you reach the end of a really good true crime series?
0:05.5	You want to know more, more about the people involved, where the case is now, and what it's like behind the scenes.
0:12.2	I get that.
0:13.7	I'm Kathleen Goldhar and on my podcast crime story, I speak with the leading storytellers of true crime to dig deeper into the cases we all just can't stop thinking about.
0:24.9	Find crime story wherever you get your podcasts.
0:30.0	This is a CBC podcast.
0:34.8	Welcome to Sick Boy, a podcast where we talk about what it's like to be sick.
0:38.5	This week's guest is Alexis.
0:40.4	She's the mother of Theodore, a little boy who has P17, 13.1 to 13.3 microduplication,
0:49.3	charge syndrome, and an ultra-complex congenital heart defect.
0:53.4	Let's talk about it.
1:07.8	All right, well, uh, this is, uh, this is going to be a real, uh, a real treat. Uh. We are sitting down with our new friend Alexis. And we're going to be diving into the world of caregiving, which is something that we've been thinking about a lot lately. I think I mentioned this on a podcast recently, but we're working on a
1:28.0	podcast right now with the Canadian Center for Caregiving Excellence. And, you know, it's a show for
1:34.6	them. It's their own podcast. And it's, you know, in order to do that correctly, there's a lot of
1:42.0	research that goes into it. And we were, we were fortunate enough
1:45.9	to be invited to their first ever, their first ever summit, their first ever, like, conference.
1:52.1	And, and it was a huge eye-opening opportunity for the three of us. It was awesome. Yeah, it really was.
1:59.8	And also kind of like, you know, kind of sobering. Because the three of us. It was awesome. Yeah, it really was. And also kind of like, you know, kind of
2:02.2	sobering. Because the state of caregiving in this country is, is, it's not what it should be.
2:10.6	And there's a lot of work to be done. And so, so I look forward to kind of diving deeper into
2:17.1	that project. And selfishly, I look forward to kind of diving deeper into that project.
2:19.1	And selfishly, I look forward to this conversation today with you, Alexis,
	...

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