Rare Disease Day: The importance of the patient and caregiver voice in rare epilepsies

Mike Davis

In recognition of this year’s Rare Disease Day, we’re supporting the global movement to raise awareness and knowledge about rare diseases. Among these are Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS), both of which profoundly impact the lives of those diagnosed and their families.??

Living with these conditions means navigating a complex medical landscape. Families often face challenges accessing appropriate medical care, finding effective treatments, and managing the day-to-day care of their loved ones. Additionally, the unpredictable nature of seizures can significantly disrupt family life and social interactions.?

While scientific and medical advances continue apace, and we may be soon approaching a time when we may be able to alter the course of these diseases for good, it is important that we do whatever possible now to ensure people are correctly diagnosed and receive the comprehensive support and treatment that they need.?

Collaboration is key to research, awareness, and creating positive change.?

Working in this field, we’ve seen first-hand the vital importance of elevating the voice of those directly impacted.??

In these often-overlooked diseases where each condition can affect a relatively small number of people, the voices of patients, families and caregivers are especially important, and their perspectives and lived experiences should be paramount in helping devise ways to provide individualized support to those affected.??

As an industry, collaboration with patient groups is an essential part of finding ways to address unmet needs, and learn more about how we can help and create patient-centered treatments and support services. We’re proud to have worked alongside the Dravet Syndrome Foundation to investigate the unique challenges faced by caregivers of recently or newly diagnosed patients. We’ve also partnered with the LGS Foundation to identify key issues for patients and caregivers through the journey of diagnosis, management, and treatment.??

Patient groups like these play a vital role in the community, helping to provide information and support to improve the lives of those affected by these conditions. Healthcare providers should continue to refer and strongly encourage caregivers to connect with patient groups to enhance their understanding of the diagnosis and improve family well-being.??

This Rare Disease Day, it’s so important that we not only continue to raise awareness of rare conditions like LGS and DS but also reinforce the need to prioritize the patient voice. By doing this we have the opportunity to positively impact the lives of individuals and families living with a rare disease.