Rare Diseases, Real Stories

Courageous Parents Network

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 [https://courageousparentsnetwork.org/] 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 [https://umassmed.edu/rarediseasesrealstories] 💜 Learn more about the Courageous Parents Network: Courageous Parents Network [https://courageousparentsnetwork.org/] NeuroJourney [https://neurojourney.courageousparentsnetwork.org/] 🔗 Share the Courageous Parents Network episode using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast Interested in learning more about gene therapy research? Email us at: AdvancingTogether@umassmed.edu [AdvancingTogether@umassmed.edu]

Jack's story: Hereditary spastic paraplegia type 4

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 [https://umassmed.edu/rarediseasesrealstories] 💜 Learn more about the Laidlaw family and their efforts to support SPG4 research. BluGenes [https://blugenes.org/spg4-cure/] SPG4 research and treatment for Jack [https://give.rarevillage.org/campaign/spg4-research-and-treatment-for-jack/c577364] Additional information about Jack [https://www.gofundme.com/f/donate-to-research-for-the-spg4-cure-for-jack] 💜 To learn more about hereditary spastic paraplegia, patient advocacy and research, visit the following resources: UMass Chan Medical School [https://www.umassmed.edu/GrayEdwardsLab/research/spastic-paraplegia-type-4-spg4/] Boston Children's Hospital, Spastic Paraplegia – Centers of Excellence Research Network [https://www.childrenshospital.org/conditions/hereditary-spastic-paraplegia] Cure SPG4 Foundation [https://www.curespg4.org/] Spastic Paraplegia Foundation, Inc. [https://sp-foundation.org/] Mauray Koduri Foundation [https://www.facebook.com/mauryakodurifoundation/] The Lilly Blair Foundation [https://www.lillyandblair.org/about] 🔗 Share Jack's story using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast Interested in learning more about gene therapy research? Email us at: AdvancingTogether@umassmed.edu [AdvancingTogether@umassmed.edu]

Raiden's story: UBA5

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 [https://umassmed.edu/rarediseasesrealstories] 💜 To learn more about the Raiden Science Foundation, visit the foundation's website at: https://www.raidenscience.org/. [https://www.raidenscience.org/] Follow Raiden's journey on Instagram: @raiden_journey. [https://www.instagram.com/raiden_journey/reels/?__d=1%2F] 💜 UBA5 disorder resources and support Raiden Science Foundation [https://www.raidenscience.org/] Translational Institute for Molecular Therapeutics at UMass Chan Medical School [https://www.umassmed.edu/translational-institute-for-molecular-therapeutics/about-us2/UBA5/] 🔗 Share Raiden's story using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast Interested in learning more about gene therapy research? Email us at: AdvancingTogether@umassmed.edu [AdvancingTogether@umassmed.edu]

Riaan's story: Cockayne syndrome

Meet Jo Kaur and Richie DiGeorge, parents of Riaan, a vibrant 5-year-old boy who has Cockayne syndrome [https://www.umassmed.edu/rare-disease-research/research-diseases-and-conditions/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 [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 [https://nam10.safelinks.protection.outlook.com/?url=http%3A%2F%2Friaanresearch.org%2F&data=05%7C02%7CBrooke.Cooney%40umassmed.edu%7C009ca1b52cc247ffd7b408dc1143b7bf%7Cee9155fe2da34378a6c44405faf57b2e%7C0%7C0%7C638404229749611628%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C3000%7C%7C%7C&sdata=II4eCoILPHVD%2FppFV6TNg4yv7GYfDXSdDu9C4YRfv9k%3D&reserved=0]. Follow Riaan's journey on Instagram [https://www.instagram.com/riaanresearch/?hl=en] and Facebook [https://www.facebook.com/RiaanResearch]: @riaanresearch 💜 Cockayne diseases resources and support National Initiative for Cockayne Syndrome [https://nics-online.org/aboutCS.html] The Cockayne Syndrome Foundation [https://www.thecockaynesyndromefoundation.org/] National Organization for Rare Disorders [https://rarediseases.org/rare-diseases/cockayne-syndrome/] Translational Institute for Molecular Therapeutics at UMass Chan Medical School [https://www.umassmed.edu/translational-institute-for-molecular-therapeutics/about-us2/CockayneSyndrome/] Amy & Friends [https://amyandfriends.org/] Viljem Julijan Association for Children with Rare Diseases [https://viljemjulijan-cure-for-rare-diseases.com/] Private Facebook Support Group for Families: Cockayne Syndrome Families [https://www.facebook.com/groups/914493766113916] 🔗 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: AdvancingTogether@umassmed.edu [AdvancingTogether@umassmed.edu]

Noa's story: Canavan disease

Four-year-old Noa Greenwood is an inspiration for families facing Canavan disease [https://www.umassmed.edu/gaolab/research/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 [https://umassmed.edu/rarediseasesrealstories] 💜 Learn more about Canavan disease: National Tay-Sachs & Allied Diseases Alliance, Inc. [https://ntsad.org/] The Horea Gene Therapy Center at UMass Chan Medical School [https://www.umassmed.edu/gaolab/research/canavan-disease/] 🔗 Share Noa's story using the following hashtags: #RareDiseasesRealStories, #RareDiseases, #podcast Interested in learning more about gene therapy research? Email us at: AdvancingTogether@umassmed.edu [AdvancingTogether@umassmed.edu]