PODCAST EPISODES
Meet Dr. Hans - An Introduction
A touching insight into the origin of Dr. Hans' interest in rare diseases and how it touches his family.
Ep. 001 - Starting Down the Path
Hello! I’m a rare disease Dad and doctor who can’t help himself to talk about rare diseases. Hopefully I touch upon a topic of your interest but please feel free to drop me a line.
Ep. 002 - Covering Goals
In covering goals I have more on my son and Syngap1. Finding a balance between managing expectations and aiming for a cure! Hope you enjoy the listen
Ep. 003 - ICD - 10
Podcast #3 takes trip down memory lane with ICD-10. Keep fighting for your code! You deserve it! Hope you enjoy the listen and please feel free to reach out!
Ep. 004 - Today it's ICD-11!
ICD-11 will be the worldwide standard in coming years so get in now-- it’ll be easier than you think! While Syngap is indexed to LD90.Y, we have a permanent Unique Identifier (URI) here: https://id.who.int/icd/entity/1830660574 which will be of use in collecting data specific to Syngap1. Also ICD-11 plans on allowing extension coding to denote the affected gene in a condition. Hopefully this Chromosomal and Gene Axis rolls out soon so that docs can add Syngap1 as an extension code to LD90.Y!
Deep dives here: https://youtu.be/oZ0PhXv8pVg?si=CZJMT2eXQ3SlFTJL
And
Ep. 005 - Transition from Pediatric to Adult care
At some point, you and the pediatrician need to plan transferring care of your ‘little’ loved one to an healthcare provider who manages adults. This can be a challenge and an event where something could fall through the cracks. Talk about it, plan it, and passing your care from one provider to the next shouldn’t let you down.
Resources here:
https://together.stjude.org/en-us/emotional-support-daily-life/transition-to-adult-health-care.html
Background:
https://www.nejm.org/doi/full/10.1056/NEJMsr2412784?logout=true
https://www.aarp.org/benefits-discounts/members-only-access/info-2025/where-are-all-the-doctors.html
Ep. 006 - Learning Lessons from Saddest Outcomes
Todays podcast is about learning lessons from the saddest outcomes.
Just over 3 weeks ago, Sarepta reported that a young man passed away after receiving their gene therapy for Duchenne Muscular Dystrophy. As a rare disease Dad, physician, and teammate in drug development, I want to share my 2 cents in the hopes it helps.
Resources here:
investorrelations.sarepta.com
Committee Recommends EU Trials of Sarepta's Elevidys Continue, Day After Holds
biospace.com
https://www.nejm.org/doi/full/10.1056/NEJMoa2307798?logout=true
https://cureduchenne.org/all-news/pfizer-ciffreo-webinar/
https://www.nature.com/articles/s41586-023-05949-1
https://www.nature.com/articles/s41586-023-05948-2?fromPaywallRec=false