Navigating A Rare Disease Clinical Trial: A Patient And Family Perspective

By Amy Sitnick, Vice President, Marketing

Despite their name, rare diseases are more prevalent than many realize, affecting approximately 300 million people worldwide—equivalent to the population of the third-largest country on the planet. The majority of these diseases are genetic, with 70% manifesting during childhood. For patients living with rare diseases, the role of caregivers is crucial. These caregivers are tasked with managing not only the disease itself but also the complex array of treatments, frequent doctor visits, and the daily needs of their loved ones. The responsibility is immense, particularly for those caring for individuals with rare diseases, as they must navigate the challenges that come with such a diagnosis from the moment it is confirmed. But the question remains: how can we best support these caregivers who are essential to the well-being of patients?

In honor of Rare Disease Day 2024, we had the privilege of speaking with Becky Vivian, a mother of two children diagnosed with Metachromatic Leukodystrophy (MLD), a rare and devastating disease. Becky shared her journey as a tireless advocate for her children, discussing the complexities of their participation in clinical trials for rare diseases and the ongoing challenge of balancing clinical trial demands with the realities of daily life. Her insights shed light on the profound responsibilities of caregivers and the critical need for support systems that can ease the burden they carry.