Wellbeing could be defined as ‘being in a state of contentment and balance’ and includes the frame of our bodies, our minds, and our spirit. Each aspect dovetails to create a framework of support. There are many different models to show the framework of wellbeing and each relates to three core needs that human beings have for safety, satisfaction and connection.

Welcoming a child into the world is a joyous occasion that is filled with hope, excitement, and the belief that all their dreams will play out in front of your eyes. It is also the time for a responsible parent to ensure the health and wellbeing of their newborn. One crucial aspect of early infant care is newborn screening, and there are many common conditions that are screened for at birth due to interventions in care from an early age. As the evolution of many rare conditions that are now being able to be treated, it highlights the importance of screening for Spinal Muscular Atrophy. Historically, SMA was an incurable condition, and now with the development and introduction of three different medicines, timely access to these treatments will drastically change the outcome for someone living with SMA.

Joining the Advocacy Bus: Empowering Change, One Journey at a Time

In a world that constantly presents us with challenges and issues demanding attention it is essential to find meaningful ways to contribute and drive positive change. Advocacy has emerged as a powerful force for critical issues facing our rare disease community, giving voice to the unheard and fighting for equity to ensure the greatest quality of life for those living with a rare disease. Advocacy is a marathon, not a sprint, and it will be a repetitive marathon that you can’t seem to finish, until that one day when it all comes together and you cross that line.

In the rare conditions landscape, patient group leaders are a driving force for change, advocacy, and support. These dedicated individuals, who are often patients themselves or a connection to a family member living with a rare condition, play a vital role in bringing together communities to amplify the collective voice of patients. For many years it was always been that fend for yourself mentality, but through connections and collaborations and a common mission, these patient group leaders with a shared focus are connecting more and more and now have the power to achieve better outcomes for the patients within their respective communities. Each patient group leader has a unique set of skills and through collaboration and regular support for one another to promote empowerment, education, improved healthcare experiences, these connections are undoubtedly promoting better outcomes.