#205 Multiple Sulfatase Deficiency with the United MSD Foundation

Y’all YOU made it happen. DNA Today won the Best 2022 Science & Medicine Podcast Award! We are honored to defend our title for the THIRD year in a row. Thank you listeners! An astonishing 5.7 MILLION people voted in the Podcast Awards this year, so it truly took each and every one of you for DNA Today to win. This was perfect timing to close out September which marked a decade of DNA Today and our 200th episode. Huge shoutout to our sponsors who make this show possible! I was able to mention a few during the acceptance speech, but I wish I had time to highlight all 40+. Listeners make you check out our Sponsors page for all the details. Anyway, I want to thank my team for so much hard work. Thank you to Corinne Merlino, Amanda Andreoli, Kajal Patel, Sanya Tinaikar, Ash Enokian, and Megha Matur for all your hard work. And it all comes back to you listeners; it’s the People’s Choice Podcast Award, so thanks for choosing us. It really means the world to us. This week we were joined by Amber Olsen and Faith McGown of the United MSD Foundationto discuss Multiple Sulfatase Deficiency (MSD), an ultra rare, fatal genetic condition, and what it’s like to run a rare disease nonprofit! Amber Olsen is the mother of Willow, a child diagnosed with MSD. Following WIllow’s diagnosis, Amber formed the United MSD Foundation, traveling the world to find a treatment to help the children with this devastating disease. She will not stop until enough money is raised to bring research into the clinic for the children with MSD. Amber and her husband Tom have 3 wonderful daughters, Kylee 15, Jenna 11, and Willow 4 years old.Faith McGowan is a campaign consultant at the United MSD Foundation. For more than 30 years, Faith has successfully supported the mission and financial goals of nonprofit and corporate organizations. Her work has included development, sales and marketing, public and media relations, event development and management, and securing individual, foundation and corporate support for nonprofit organizations. Faith has a BA in Journalism from the University of Minnesota and began her professional career in journalism. She is an avid runner and certified as a yoga instructor and health coach. Faith and her daughter live in Memphis, Tennessee.On This Episode We Discuss:Willow’s diagnostic odysseyEffects of MSD on the bodyHow lysosomal conditions like MSD cause neurological symptomsMSD inheritance Rarity and types of MSDMSD diagnosis (Free Invitae testing and lack of newborn screening)Types of support that kids with MSD can receiveChallenges faced by rare disease organizationsThe United MSD FoundationMSD natural history studies and clinical trialsAdvice for parents and caregivers We’d like to share a few of the materials mentioned in this episode; the United MSD Foundation’s physician guide, and this guide for parents and caregivers that have a child that has recently been diagnosed with MSD.You can follow the United MSD Foundation on Twitter, Facebook, LinkedIn, Instagram, and YouTube.Stay tuned for the next new episode of DNA Today on October 14th, 2022 where we’ll be discussing phenotypically driven clinical results with Dr. Lora Bean of PerkinElmer Genomics! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed w