Rare Diseases, Real Stories

In the final episode of Rare Diseases, Real Stories, two Massachusetts mothers who lost their children to rare diseases share how they turned their grief into purpose. Blyth Taylor Lord started the Courageous Parents Network 13 years after her daughter, Cameron, died from Tay-Sachs disease. Jennifer Siedman lost her son, Ben, to Sanfilippo syndrome just shy of his 18th birthday. Together, Lord and Seidman launched the network to empower and support parents whose children are diagnosed with rare diseases and other serious illnesses.   🎧 Listen and subscribe to all episodes of Rare Diseases, Real Stories: umassmed.edu/rarediseasesrealstories   💜 Learn more about the Courageous Parents Network:  Courageous Parents Network  NeuroJourney   🔗 Share the Courageous Parents Network episode using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast  Interested in learning more about gene therapy research? Email us at: [email protected]      

Seven-year-old Jack Laidlaw, the oldest of three boys, is upbeat and friendly to everyone he meets, according to his parents, Anna and Richard Laidlaw. But Jack faces challenges due to a rare disorder he cannot yet comprehend. His parents are determined to remain hopeful and create a better future for him despite his diagnosis of hereditary spastic paraplegia type 4 (SPG4).   🎧 Listen and subscribe to all episodes of Rare Diseases, Real Storie: umassmed.edu/rarediseasesrealstories 💜 Learn more about the Laidlaw family and their efforts to support SPG4 research.   BluGenes     SPG4 research and treatment for Jack  Additional information about Jack  💜 To learn more about hereditary spastic paraplegia, patient advocacy and research, visit the following resources:     UMass Chan Medical School  Boston Children's Hospital, Spastic Paraplegia – Centers of Excellence Research Network  Cure SPG4 Foundation    Spastic Paraplegia Foundation, Inc.  Mauray Koduri Foundation    The Lilly Blair Foundation    🔗 Share Jack's story using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast  Interested in learning more about gene therapy research? Email us at: [email protected]    

Tommy and Linda Pham turned their heartbreak over their son Raiden's ultra-rare disease diagnosis, UBA5 disorder, into hope for others. There are only 30 known cases in the world, but the Phams' relentless determination and their partnership with UMass Chan Medical School could pave the way for gene therapy advancements.   🎧 Listen and subscribe to all episodes of Rare Diseases, Real Stories: umassmed.edu/rarediseasesrealstories  💜 To learn more about the Raiden Science Foundation, visit the foundation's website at:  https://www.raidenscience.org/. Follow Raiden's journey on Instagram: @raiden_journey.   💜 UBA5 disorder resources and support  Raiden Science Foundation  Translational Institute for Molecular Therapeutics at UMass Chan Medical School    🔗 Share Raiden's story using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast   Interested in learning more about gene therapy research? Email us at: [email protected]    

Meet Jo Kaur and Richie DiGeorge, parents of Riaan, a vibrant 5-year-old boy who has Cockayne syndrome, a rare and debilitating genetic disease. In this podcast episode, Riaan's parents take listeners on an emotional journey through their lives. They reflect on their darkest days, their resilience, their small victories and their enduring hope.  🎧 Listen and subscribe to all episodes of Rare Diseases, Real Stories on our website at umassmed.edu/rarediseasesrealstories or wherever you get your podcasts. 💜 To learn more about the Riaan Research Initiative, visit the foundation's website at: riaanresearch.org.  Follow Riaan's journey on Instagram and Facebook: @riaanresearch 💜 Cockayne diseases resources and support National Initiative for Cockayne Syndrome The Cockayne Syndrome Foundation  National Organization for Rare Disorders   Translational Institute for Molecular Therapeutics at UMass Chan Medical School Amy & Friends Viljem Julijan Association for Children with Rare Diseases Private Facebook Support Group for Families: Cockayne Syndrome Families 🔗 Share Riaan's story and build awareness using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast Interested in learning more about gene therapy research? Email us at: [email protected]    

Four-year-old Noa Greenwood is an inspiration for families facing Canavan disease, a rare genetic disorder. In June 2022, she became the third child to receive a promising gene therapy for the disease, developed by researchers at UMass Chan Medical School. This episode explores Noa's story, her parents' commitment to rare disease awareness and the hope innovative treatments provides.    🎧 Listen and subscribe to all episodes of Rare Diseases, Real Stories:  umassmed.edu/rarediseasesrealstories 💜 Learn more about Canavan disease:  National Tay-Sachs & Allied Diseases Alliance, Inc.   The Horea Gene Therapy Center at UMass Chan Medical School   🔗 Share Noa's story using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast  Interested in learning more about gene therapy research? Email us at: [email protected]    

Two-year-old Catherine Radivilova's story is as unlikely as it is amazing. While pregnant with Catherine, Tamara Radivilova and her son fled their home in Ukraine in the days following Russia's invasion, while her husband stayed behind to fight in the war. For the first nine months of her life Catherine developed as expected, but after symptoms arose and setbacks occurred, Catherine was diagnosed with Tay-Sachs disease, a fatal genetic disorder. Through an unlikely series of events, Catherine and her mother found themselves in the U.S., where Catherine became the final participant accepted to a UMass Chan gene therapy clinical trial for Tay-Sachs. Despite ongoing challenges, Tamara Radivilova's resilience and love shine through as she fights for her daughter's future.  🎧 Listen and subscribe to all episodes of Rare Diseases, Real Stories:   umassmed.edu/rarediseasesrealstories. To learn more about Tay-Sachs disease, patient advocacy and research, visit:  UMass Chan Medical School   National Tay-Sachs & Allied Diseases Association  Cure Tay-Sachs Foundation  Blu Genes Foundation    The Mathew Forbes Romer Foundation    🔗 Share Catherine's story using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast   Interested in learning more about gene therapy research? Email us at: [email protected]    

UMass Chan Medical School will launch Rare Diseases, Real Stories, an inspiring six-episode podcast series on Monday, February 10. Rare Diseases, Real Stories is a special podcast series that celebrates families who are transforming the world of rare diseases. In each episode, hear from parents about the challenges they face before and after their child is diagnosed, and the grief, strength, love and unwavering hope that guide them. Through their stories, you'll discover how their collaboration with UMass Chan researchers is driving innovation and fostering new rare disease treatments. Prepare to be moved, motivated and inspired by the real-life champions who are shaping the future of rare disease advocacy and research, one family at a time.  🎧 Listen and subscribe to all episodes of Rare Diseases, Real Stories on our website at umassmed.edu/rarediseasesrealstories or wherever you get your podcasts.  🔗 Share the episodes using the following hashtags: #rarediseasesrealstories, #RareDisease, #podcast  Interested in learning more about gene therapy research? Email us at: [email protected]   For updates and episode highlights, @UMassChan on Instagram, X, Bluesky and YouTube. On LinkedIn and Facebook, you can find us at UMass Chan Medical School.