The first in our two-part series for Rare Disease Month, child neurologist Sam Mackenzie, M.D., Ph.D. joins host Emily Hessney Lynch for a conversation about his career path, research interests, spinal muscular atrophy, gene therapy, and his hopes for a better healthcare system.

In the second half of the show, Sam shares his experiences as the dad of three kids, how he feels like a 75-year-old at heart, POOPCUPs, the struggles of finding parent friends you vibe with, and the importance of letting your children be their own people.

Notes:

1. Sam mentions that SMA is not that rare compared to some ultra-rare diseases. For reference, SMA affects about one in 15,000 births in the United States. Ultra-rare diseases affect about 1 in 50,000 people.
2. After recording, we double checked the data on the new gene therapy for adults with SMA. Sam confirmed the following: based on patient-reported outcomes data, roughly 50% improved, 25% were stable, and 25% worsened over a one-year timeframe.
3. When we talk about Assassin's Creed, Emily mentions that one of the games was used for some 3D mapping application that she couldn't recall. Turns out Ubisoft used detailed digital scans of Notre Dame to depict it in Assassin's Creed: Unity, and those were later used to rebuild Notre Dame after the devastating fire in 2019.

Links:

1. Sam's podcast: Immature Brains: A Child Neurology Podcast
2. Feeling inspired to give to support research this Rare Disease Month? The TANGO2 Research Foundation is a great option!
3. For more on how you can support the SMA community, check out Cure SMA.
4. Follow Emily on Instagram
5. Emily's website

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