Episode 74: Erika Stariha - SATB2-associated Syndrome

Erika shares her family’s seven-year journey to find a diagnosis for her son, Urban, who was eventually found to have SATB2-associated syndrome. With warmth and candour, Erika explains what it’s like to live through years of uncertainty, to celebrate small milestones, and to build a global community where none existed before.Erika reflects on motherhood, advocacy, and balance – from the early fears of losing her child to the hope and purpose she found through founding the SATB2 Europe Foundation. Her story is one of resilience, love, and an unshakable belief in community and connection.The song that Erika chose is Ain't No Mountain High Enough by Marvin Gaye and Tammi Terrell.

Acromegaly is a rare condition caused by a pituitary tumour that leads to excess growth hormone. In this episode, Carolyn shares candidly how her symptoms, which developed slowly and over a long period of time, were mistaken for menopause or normal aging, until a series of unusual infections led to her diagnosis.She reflects on the shock of being told she had a brain tumour, the challenges of undergoing major surgery, and the ongoing reality of living with residual tumour and long-term treatment. We also talk about the importance of listening to your body, and the progressive journey to recovery and feeling your own self again. Carolyn’s story is one of resilience and hope: she has run marathons, completed triathlons, and learned to manage her energy carefully while still embracing life fully.The song that Carolyn chose is Unwritten by Natasha Bedingfield.

Giselle shares her journey with Cushing syndrome, a rare and often misunderstood condition caused by an overproduction of cortisol. For years, Giselle’s symptoms were dismissed by doctors as lifestyle-related issues, despite her insistence that something deeper was wrong. She describes the frustration of being unheard, the relief of finally receiving a diagnosis, and the resilience it took to advocate for herself. Giselle’s story is not only about overcoming medical challenges but also about learning to trust her intuition, seek second opinions, and embrace recovery with hope and gratitude. Her message is one of strength, persistence, and encouragement for others who may be questioning their own health.The song that Giselle chose is Rise Up by Andra Day.

Dariya’s rare autoimmune kidney condition, HSP Nephritis, has shaped much of her childhood and continues to affect her life today. Diagnosed as a child after a long and difficult journey to recognition, Dariya opens up about the physical struggles, hospital experiences, and the lasting impact of her condition. She describes how it affected her mental well-being, leading to PTSD, OCD, and borderline personality disorder. Yet, Dariya speaks with honesty and resilience about how therapy, persistence, and the support of her loved ones have helped her find stability and strength. Today, she works in healthcare herself, bringing compassion and understanding to patients with complex needs.The song that Dariya chose is Hold My Girl by George Ezra.

Kelly speaks with openness and wisdom about living with a condition that is not life-threatening, but deeply life-altering – wet age-related macular degeneration (Wet MD). From the shock of her first diagnosis to the reality of ongoing eye injections, she offers a candid look into the emotional, physical, and practical challenges of losing central vision. She shares a down-to-earth approach to adapting to her new condition, reflecting on the balance between what we can and cannot control, the importance of medical research, and the need for more compassionate health insurance systems. Her story is not just about vision loss – it is about perspective and finding peace in the journey.The song that Kelly selected is Time by Lauren Daigle and Aodhan King.

Daniel lives with a rare genetic condition, Tuberous Sclerosis Complex (TSC), that results in non-cancerous tumors to grow in various organs, including the brain. From being diagnosed as a child through visible skin signs to managing the complexities of healthcare and advocacy as an adult, Daniel’s journey is marked by courage and community. He opens up about the challenges of transitioning into adulthood, navigating a flawed healthcare system, and carrying the weight of an invisible condition. Daniel is passionate about ensuring adults with TSC are not forgotten and that healthcare becomes a human right, not a privilege.  He chose the song (Everything I do) I do it for you by Bryan Adams. 

Nate shares his journey with HLH (hemophagocytic lymphohistiocytosis), a rare and life-threatening immune disorder. Misdiagnosed with Crohn’s disease, he endured over 16 surgeries and a complete removal of his colon before receiving the right diagnosis, leading to a bone marrow transplant that saved his life. Nate reflects deeply on his path so far, marked by systemic healthcare issues, a search for his own identity, and a drive to advocate for himself and others. Nate also discusses how being a queer Black man with a rare condition has shaped his experience of the world and his passion for health equity, leading to a degree in Health Services Management. Nate’s story is a powerful testament to resilience, authenticity, and the importance of being seen and heard as your true self.The song Nate chose is Alien Superstar by Beyoncé.

Rob shares his personal journey growing up with severe haemophilia A, a rare bleeding disorder. Diagnosed as a baby due to family history, Rob and his brothers inherited the condition from their mother, who is a carrier of a mutated gene leading to haemophilia. His story spans from childhood limitations, frequent injections, and a sense of isolation, to the profound impact a life-changing treatment can have. Rob also reflects on what it means to work in clinical research while being directly impacted by its advances. This episode is a compelling testament to resilience, progress in medicine, and the hope that future generations may never experience what he and his brothers did.The song that Rob chose is Iris by The Goo Goo Dolls.

Taylor shares her traumatic and transformative journey of being diagnosed with a rare condition – atypical hemolytic uremic syndrome (aHUS) – triggered during childbirth. Her story is one of medical chaos, survival against all odds, and learning to mother through unimaginable obstacles. With grace and humour, Taylor opens up about the physical devastation of her illness, the emotional toll of being separated from her newborn daughter, and the importance of timely diagnosis and innovative treatments. She also reflects on how becoming a patient changed her relationship with vulnerability, resilience, and advocacy.The song Taylor chose is Be (For July) by Dustbowl Revival, written by her husband Zach Lupetin for their daughter.

Kevin opens up about living with PKU, a rare metabolic condition diagnosed at birth that requires lifelong dietary management. As a passionate advocate and storyteller, Kevin walks us through his journey, from early challenges of growing up with a restrictive diet to becoming a global voice for the PKU community. The conversation dives into mental health, feelings of isolation, access disparities in healthcare, and the healing power of music and connection. Kevin’s vulnerability and perspective offer not just education, but comfort to others navigating rare diseases.The song that Kevin chose is Shadow Days by John Mayer.