Stagione 1
Episode 3: Living with Alpha-Mannosidosis – A Patient’s Perspective
Episode 2: A Novel Treatment for Beta-Mannosidosis
🎙️ Host: Erin Hubbard 🎤 Guest: Sarah Forsman 📅 Release Date: 2/28/2025 🔬 Topic: Life with Alpha-Mannosidosis and the Impact of Early Treatment Episode Overview In this episode of These Kids Can’t Wait, host Erin Hubbard speaks with Sarah Forsman, a patient living with Alpha-Mannosidosis. Sarah shares her personal journey, including undergoing a bone marrow transplant at the age of four, and how this early intervention has shaped her life. From navigating the challenges of a rare disease to advocating for greater awareness, Sarah offers a unique and inspiring perspective on what it means to live with Alpha-Mannosidosis. This conversation sheds light on the realities of managing a lysosomal storage disorder, the importance of early diagnosis and treatment, and the resilience of the rare disease community. Key Takeaways ✔️ Sarah’s experience with Alpha-Mannosidosis and her early treatment journey ✔️ The impact of a bone marrow transplant on disease progression ✔️ Challenges and triumphs of living with a rare disease ✔️ The importance of research, advocacy, and patient support networks Resources & Links 🌐 Learn more about The Lost Enzyme Project: https://thelostenzymeproject.org/ 📢 Follow us on social media: https://www.linkedin.com/feed/ https://www.instagram.com/thelostenzymeproject/ https://www.facebook.com/people/The-Lost-Enzyme-Project/61551541563692/ 📩 Contact us: Email us at admin@thelostenzymeproject.org to get in contact with our producer at alex@thelostenzymeproject.org Sarah’s Blog: https://achievetheimpossibletoday.com/blog/ ISMRD: https://www.ismrd.org/ Subscribe & Stay Connected Stay informed by subscribing to These Kids Can’t Wait on Spotify, Apple Podcasts, Youtube or Amazon music. If you find this episode valuable, please leave a review to help raise awareness for rare disease research.
🎙️ Hosts: Lorena Lomelin and Phoebe Wang 🎤 Guest: Dr. Virginia Kimonis 📅 Release Date:2/28/2025 🔬 Topic: A deep dive into rare disease research. Episode Summary: In this episode of These Kids Can’t Wait, hosts Lorena Lomelin and Phoebe Wang sits down with Dr. Virginia Kimonis, a nationally renowned expert in genetics and clinical biochemical genetics, to discuss her groundbreaking work on Beta-Mannosidosis and the development of a novel treatment. Dr. Kimonis shares her journey into rare disease research, the challenges of treating lysosomal storage disorders, and the innovative science behind The Lost Enzyme Project. We also explore the impact of this research on patients and families, the funding challenges in rare disease research, and the future of treatments for ultra-rare conditions. Key Takeaways: ✔️ What lysosomal storage disorders are and why they’re challenging to treat ✔️ An overview of Beta-Mannosidosis, its symptoms and the challenges faced ✔️ The process of developing a treatment, from preclinical research to clinical trials ✔️ The future of rare disease research and the potential for gene therapy Resources & Links 🌐 Learn more: https://thelostenzymeproject.org/ or https://bit.ly/lostenzyme 📢 Follow us on social media: https://www.linkedin.com/feed/ https://www.instagram.com/thelostenzymeproject/ https://www.facebook.com/people/The-Lost-Enzyme-Project/61551541563692/ 📩 Contact us: Email us at admin@thelostenzymeproject.org to get in contact with our producer at alex@thelostenzymeproject.org Dr. Kimonis’s lab: https://www.mammag.uci.edu/kimonis/index.asp Subscribe & Stay Connected Stay informed by subscribing to These Kids Can’t Wait on [Spotify, Apple Podcasts, or preferred platform]. If you find this episode valuable, please leave a review to help raise awareness for rare disease research.
🎙️ Hosts: Erin Hubbard, Laurel Gregier, and Lorena Lomelin 📅 Release Date:2/28/2025 🔬 Topic: Story Behind the Lost Enzyme Project Episode Overview In this inaugural episode of These Kids Can’t Wait, we are joined by the co-founders of The Lost Enzyme Project—Erin Hubbard, Laurel Gregier, and Lorena Lomelin. As parents of children affected by ultra-rare lysosomal storage disorders, they share their deeply personal experiences, the challenges of advocating for research in rare diseases, and the motivation behind launching this initiative. This discussion highlights the urgent need for scientific progress, the barriers to treatment development, and the power of patient-led advocacy in accelerating change. Key Takeaways ✔️ The personal journeys that led to the creation of The Lost Enzyme Project ✔️ The organization’s mission to drive research and innovation for rare diseases ✔️ Challenges in the rare disease space, including funding gaps and limited awareness ✔️ The importance of collaboration between families, researchers, and biotech leaders Resources & Links 🌐 Learn more: https://thelostenzymeproject.org/ 📢 Follow us on social media: https://www.linkedin.com/feed/ https://www.instagram.com/thelostenzymeproject/ https://www.facebook.com/people/The-Lost-Enzyme-Project/61551541563692/ 📩 Contact us: Email us at admin@thelostenzymeproject.org to get in contact with our producer at alex@thelostenzymeproject.org Subscribe & Stay Connected Stay informed by subscribing to These Kids Can’t Wait on Spotify, Apple Podcasts, Youtube or Amazon music. If you find this episode valuable, please leave a review to help raise awareness for rare disease research.