Rare Epilepsies - An Advocate
Introduction
My name is Kris Pierce1. First and foremost, I am mum to my 18-year-old twins, Will and Ella. Will has had seizures since day 4 of his life and it wasn’t until he was 14 that we found out that he had a rare genetic epilepsy called SCN2A2. I’m also Founder of SCN2A Australia3, Co-Founder of Genetic Epilepsy Team Australia (GETA)4, and on the Leadership Council for Global Genes5.
In the beginning
Will spent many months in hospital during his first year of life. He had his first seizure when he was 4 days old. During this year, he had every test under the sun where he was misdiagnosed with Alpers Syndrome6 and sent home for palliative care7. We were advised he would only be with us for a few months longer and would pass away before his 1st birthday. We then travelled down a long and windy road to an accurate diagnosis. He was all too often put in the “too-hard basket” and all the while, all his unusual symptoms were masking the underlying genetic cause.
Where has this led me?
During this diagnostic odyssey we had no place to land, no tribe or community. We didn’t fit in anywhere. Upon getting a diagnosis we fell in with the global SCN2A community. Very quickly we knew we wanted to learn more, support research and make a difference. We are lucky enough to have world leading experts in SCN2A working in our home town here in Melbourne8, Australia9. Professor Steve Petrou10 has been progressing the science behind the first gene altering treatment for SCN2A with Biotech company, RogCon11. Professor Ingrid Scheffer12 has been a leader in diagnosis and detecting genetic epilepsies. And finally, Dr Katherine Howell13 is the Principal Investigator on the SCN2A Natural History Study14 currently recruiting).
It made sense to work directly with them and share this with the SCN2A global community.
Originally, I trained as a nurse and have since gone on to complete two Masters’ Degrees in Health Science and Wellness. As with many parents with a medically complex child, our careers get put on hold and thus it has taken me a while to weave my way back into meaningful work. We set up SCN2A Australia3 and this has given me a focus and linked me in with the rare disease world. So many amazing advocates - many of whom I aspire to be like!
SCN2A Australia
SCN2A Australia’s mission is to work locally and connect globally.
We:
- Connect Australian families and provide information and resources
- Link with and work directly with Australian researchers, clinicians and professional bodies
- Work with researchers around the globe to ensure Australian families have access to research projects and any potential treatments
- Work with other SCN2A bodies to co-ordinate activities worldwide, including awareness raising
- Raise awareness of SCN2A in Australia both with the public and health professionals
- Promote fundraising for SCN2A in Australia
- Work with relevant government departments and rare disease entities ensuring our work aligns with providing access to treatments when they become available As our strengths are in the health field and building educational resources we developed a podcast, SCN2A Insights15 and the SCN2A Webinar Series16. These are easily accessible resources which a globally applicable directly to the SCN2A community but also other similar conditions.
SCN2A Podcast
We feature on Apple Podcasts18, Spotify19, Google Podcasts20, and Omny.fm21.
Genetic Epilepsy Team Australia (GETA)
As our condition is very rare with a roughly 500 patients around the globe, we teamed up with 2 other families to set up Genetic Epilepsy Team Australia (GETA)4. Our children all have difference rare genetic epilepsies but there’s so much we share.
GETA has teamed up with world leaders in the field of genetic epilepsy. Our goal is to support the ground-breaking research that happens right in Australia and surrounding region— from stem cells22 to mouse models to biotech and beyond. We also aim to make life better for people living with rare epilepsy.
and Kelly Clohessy25 – GETA
Global Genes
In 2019, I was appointed to the Global Genes RARE Global Advocacy Leadership Council26 and in 2020 part of the organising committee for their virtual Global Summit27 later this year.
The RARE Global Advocacy Leadership Council is made up of patient advocates from around the world. The council is responsible for driving initiatives to bring patient support, advocacy training and advice on setting up a patient organization to all corners of the globe, to give those a voice who currently do not have one and to encourage development and support to all those who need it.
My inspirations in SCN2A and Rare Disease
- Professor Steve Petrou 10 – we call him the Rockstar of SCN2A.
- Alex Nemiroff 28 and Kelley Dalby 29
- RogCon Biosciences 11 . Alex and Kelley are both parents of children diagnosed with SCN2A who set up RogCon Biosciences in their honour. RogCon is leading the way in bringing treatments to our children.
- Sara Butcher 24 and Danielle Williams 25 – my GETA buddies. They are both power women who are leading the way in their specific genes and together we are changing the landscape of genetic epilepsy in Australia. No better team members. *
If you have any questions regarding SCN2A, Dravet 30 , KCNQ2 31 , Syngap2 32 , or other genetic epilepsies; please do not hesitate to get in touch. We have connections from around the world and together can achieve so much.
Join us on social
Newsletter signup
