RARE Foundation Alliance Member Spotlight: Kris Pierce

Organization(s) you represent:  Founder,SCN2A Asia Pacific 

What led you to the rare disease community?
My son, Will was diagnosed with SCN2A at the age of 14. Prior to this he was misdiagnosed and then put in the too hard basket. Getting a diagnosis connected the dots for us. All the complex and non defined symptoms suddenly made sense. Originally, I trained as a nurse and health educator so I lent into my strengths and are building resources for the global SCN2A community. These are being translated and used in different languages.

What do you think are the areas that are lacking in the community (specific to your org or in
general)?
My approach since being the rare disease space, is to find like minded people who want to partner with you to make a difference. I learnt that this is not always in your own disease and finding gene or disease agnostic partnerships can be even more powerful. There is so much to learn and we must harness opportunities as they present themselves. Connections and partnerships are crucial to making headway for the families you represent. In 2019, I attended my first Global Genes summit and I was blown away with the generosity of each and everyone I spoke with. Most of these relationships have developed across the years, some culminating in international collaborations.

In life we continuously face challenges and the rare disease world is certainly not immune to challenges. It can be a rollercoaster of joy, sadness, frustration but most importantly hope. How you navigate these challenges is critical to the success of the mission or your organization.

Navigating the disparity and inequities in rare disease are hurdles we need to face collectively.

The areas we are concentrating on, while also driving forward to treatments, are access to timely diagnostic options, globally accessible data and post diagnostic support. We are developing psychological supports for family members and a cohesive peer support system. We are looking forward to launching a new project in 2022 which will look to support parents and caregivers to take time to care for themselves.

What are some of the pain points?
True consume/patient involvement is still hard. Whilst consumer involvement is often now required on projects, it can be token involvement, being consulted only to approve something that has already been decided without being informed by consumers.

What are your areas of expertise?
My strengths lie in building teams and networks both within our rare disease but also across conditions. Sharing our learnings is imperative. Resources are so hard to come by in rare disease and so therefore it becomes more important to work as a team. We have built a nexus for our SCN2A community in our region, working closely with clinicians, researchers and families. Together we are building a better future for families in our region and SCN2A families around the globe.

I have been able to utilise my strengths in education and advocacy, developing key resources such as SCN2A podcast, SCN2A Simplified (breaking down the science for our families) conferences and webinars.

Over the last 3 years I have supported new SCN2A groups set up around the globe, providing advice and mentorship. It is imperative to have a local voice and then to connect globally. This year we will kick off our international meetings with SCN2A groups harnessing each other’s strengths and galvanising our messages as a collective group.

What is your hope for the future for rare diseases?
Rare disease has had a surge of interest as we head towards many new and novel therapies, my hope is that they are equally accessible to all, not just the country in which we work. My longer term goal is to work and support others to get treatments to their children no matter where they live.