WIB-San Diego: Beyond the Horizon – Shining a Light on Ultra-Rare Diseases

On February 25, 2025, WIB-San Diego hosted its 11th Annual Rare Disease Signature Event, bringing together a distinguished panel of experts and advocates to illuminate the challenges and advancements in ultra-rare diseases—conditions affecting fewer than 50,000 people worldwide. This year’s discussion featured perspectives from a pioneering clinical geneticist, a biotech leader specializing in nano-rare diseases, and a patient-caregiver duo navigating life with an ultra-rare neurological disorder. 

A Personal Journey with Mitchell Syndrome 
Cruz, a college student at UC Berkeley, is among the very few individuals worldwide diagnosed with Mitchell Syndrome, a rare genetic mutation with no known cure. Her sister and caregiver, Stefania, shared the complexities of supporting a loved one with an ultra-rare disease, from the emotional toll of uncertainty to the logistical hurdles of insurance coverage. They highlighted the stark realities patients face—feelings of isolation, lack of definitive prognoses, and the challenge of fitting into traditional healthcare categories. However, they also emphasized the profound relief of receiving a diagnosis and connecting with a community that understands their journey. 

The Power of Early Genetic Screening 
Dr. Wigby, a board-certified clinical geneticist, underscored the importance of early identification and diagnosis in rare diseases. She detailed the genetic evaluation process, which includes gathering a comprehensive family history, assessing symptoms across body systems, and collaborating with specialists to refine diagnoses. Her goal is to help patients achieve the best possible quality of life through personalized genetic care. 

Cutting-Edge Research & Innovative Treatments 
Laury, a leader at n-Lorem Foundation, spoke about the groundbreaking work in antisense oligonucleotide (ASO) therapies for nano-rare diseases. ASO technology is the only approach with FDA guidance specifically tailored to these ultra-rare conditions, offering a faster pathway to experimental treatments. By working closely with physicians, n-Lorem provides free, lifelong access to individualized ASO therapies, bridging the gap between genomic discovery and personalized medicine. 

Breaking Misconceptions & Raising Awareness 
Throughout the discussion, panelists tackled common misconceptions about rare diseases,  including the assumption of low life expectancy or inevitable disability. They also addressed the uncertainties surrounding insurance coverage, emphasizing the crucial role of partnerships between healthcare providers and drug manufacturers in securing treatment access. 

This inspiring and educational event highlighted the resilience of rare disease patients, the urgency of early diagnosis, and the promise of scientific innovation. By raising awareness and fostering collaboration, WIB-San Diego continues to support the rare disease community in its pursuit of hope, connection, and breakthrough therapies. 

We extend our heartfelt gratitude to Travere Therapeutics for generously hosting this event and their continued commitment to the rare disease community.

Submitted by Liz Paz