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 18 th birthday . Together, Lor...

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 J ack faces challenges due to a rare disorder he cannot yet comprehend . H is parents are determin ed to remain hopeful and create a better future for him despite his diagnosis of hereditary spastic paraplegia type 4 (SPG4).    🎧 L isten an...

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 Pham s ' 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 St...

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 Di...

Four-year-old Noa Greenwood i s 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 .       🎧...

Two-year-old Catherine Radivilov a '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 diag...

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 e ach episode , hear from parents about the challenges they face before and after their child is diagnos ed , and the grief, strength...