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Autumn 2020 ​RARE Epilepsy

RARE Epilepsy Edition Article intros and links: 

RARE Epilepsy has landed! 

Our autumn edition is now live and we are very excited to share our biggest edition yet! With over 130 forms of rare epilepsy it is no surprise. This edition is packed full of interesting and insightful epilepsy related content raising awareness for and exploring the condition that effects 1 in every 100 people, here is what you can expect to see: 

– clinical spotlight on the current landscape for rare and complex epilepsies and the role of European Reference Networks with Dr Helen Cross, Princess of Wales Chair for Childhood Epilepsy, consultant paediatrician and co-lead for the ERN EpiCARE

-charity spotlight—three decades of Soft UK, supporting families affected by trisomy 13/18

-insights into the scientific and clinical developments on the horizon for epilepsy

-updates on the latest studies, eSNORE and EDiTS -Tuberous Sclerosis Association and partners

-powerful individual, family and advocate voices covering a range of conditions including CDKL5, Dravet syndrome, hypothalamic hamartomas and many more 

-international news and reviews. 

Open #RAREEpilepsy here:

We would like to thank 

Ring20 Research & Support UK CIO

for all of their support on this edition 💜

#RARERevolution #epilepsy #autumnedition #magazine #NFP #rareepilepsy #raredisease #rarecondition #epilepsyawareness #epilepsywarrior #epilepsysupport

Full Edition Link:

The view from my window as I write this is truly autumnal, and the colours of autumn evoke for me the feelings of a year drawing to an end. And what a year it has been!
Editor’s Welcome

RARE and complex epilepsies – a clinician’s perspective 

Dr Helen Cross, Princess of Wales Chair for Childhood Epilepsy, consultant paediatrician and co-lead for rare and complex epilepsy European Reference Network (ERN), talks to us about the roles of the ERN, BREXIT, treatments and new ways of thinking in managing epilepsy. 

Clinical Spotlight

Setting the standard – three decades of soft UK  

Last month, the UK based charity, Soft UK, celebrated an important milestone- 30 years supporting families affected by the devastating rare neurological diseases trisomy 13,18 and related conditions. Their communications officer. Sonia Sankoli, spent time with our editor talking about their legacy and what drives them forward. 

Charity Spotlight

Pulse Infoframe launches Rare Central™ and their Pioneer program – reimagining the future of real-world data. They have designed Rare Central™ to help your patient group navigate its research journey, and now you can take your next step with your first year’s costs on them! Open here to find out more: 

Pulse Infoframe launches Rare Central 

Ergomed/PSR Orphan Experts patient centricity in action 

When Bojana Mirosavljevic’s daughter was diagnosed with a rare disease, she was thrust into the world of patient advocacy and clinical research. So began her fight for her daughter and others like her, culminating in the Serbian and European parliament passing a law in her daughter’s name. With her journey far from over Bojana talks to RARE Revolution about how her new role as patient engagement officer at Ergomed/PSR Orphan Experts enables her to continue the fight by supporting a truly patient-centric approach to clinical trials and research. 

Ergomed/PSR Orphan Experts Patient centricity

This time it’s personal 

When Jessica Zeigler took a break from her career to devote her time to supporting her daughter Amelia, who has NOD2- associated autoinflammatory disease, she never expected that her unique insight into rare disease would lead her to a new role as proposals manager for Illingworth Research. 

Illingworth – This time it’s personal

RARE Epilepsy Introduction 

RARE Revolution editor Nicola Miller introduces our specialist section dedicated to those affected by rare and complex epilepsies. Bringing us up to speed on the incredible scientific and clinical strides being made in the field, as well as getting to know the charities who are doing what they do best – supporting families. 

RARE Epilepsy Introduction

Leading the next wave of gene therapy for rare paediatric neurologic diseases 

Encoded appreciates the urgency of bringing innovative gene therapies to patients and families living with rare paediatric neurologic diseases, and this commitment drives our work every day.

 Stephanie Tagliatela, chief scientific officer and co-founder, and Salvador (Sal) Rico MD PhD, chief  medical officer, talk about Encoded Therapeutics, a biotechnology company focused on developing one-time precision gene therapy for paediatric neurologic diseases. 

Encoded – leading the next wave in gene therapies 

SCN2a treatments – the future is bright 

The SCN2A community have a great reason to be optimistic for the future. With a highly motivated and mobilised patient charity and community driving the way forward for rare and genetic epilepsies their effort are paying dividends with a strong treatment pipeline bringing drugs to clinical trial. Kris Pierce and David Cunnington co-founders of SCN2A Australia bring us up to speed. 

SCN2a treatments – the future is bright 

Dravet Syndrome – looking to the future 

The Dravet Syndrome Foundation, Spain is an award-winning charity working hard to support families, whilst keeping Dravet syndrome (DS) high up the agenda for scientific development and breakthroughs, giving the community much to feel optimistic about 

Dravet Syndrome – Looking to the future

Epilepsy Specialist Nurses – supporting life with epilepsy 

Nicola Heenan and Phil Tittensor have almost forty years of combined experience in neurological nursing. In their capacity as specialist epilepsy nurses they are helping adults, children and their families to live their best lives with epilepsy. 

Epilepsy specialist nurses

Rare Epilepsy Network 

More than fifty epilepsy organisations unite to improve outcomes for patients and families. The Rare Epilepsy Network (REN) is a collaboration of over fifty organisations representing patients with a rare disorder that is associated with epilepsy or seizures. The aim of the network is to improve the lives of those living with rare epilepsies. Ilene Penn Miller, volunteer director of REN, discusses how the REN has gone from strength to strength and is steadfast in its commitment to uniting the voice of those affected by epilepsy 

Rare Epilepsy Network

Alternating hemiplegia of childhood (AHC) 

Katherine Behl (UK) and Rosaria Vavassori (Italy) are two mothers whose lives were changed when their children received a diagnosis of AHC. Now, brought together by a common goal, they are part of an international consortium driving research into this devastating and debilitating neurological disease. 

Alternating hemiplegia of childhood

Our Journey with CDKL5 deficiency disorder 

Carol-Anne Partridge has seen first hand what research and drug discoveries truly mean to individuals and their families. Her own daughter Amber has shown incredible progress since she gained access to treatment- progress which is seeing her connect on a deeper level with her family and the world around her, and as Carol- Anne explains you cannot undervalue the power of hope this brings 

Our Journey with CDKL5 deficiency disorder 

EpiCARE -rare and complex epilepsies You are not alone! 

Barbara Nicol, president of Purple Day Espana outlines the vital role of patient advocacy groups (ePAGS) in driving forward the work the European Reference Network, EpiCARE dedicated to rare and complex epilepsies

 EpiCARE rare and complex epilepsies

Hope for hypothalamic hamartomas – transforming care 

For some drug resistant epilepsies surgery may hold the key to disease management. Hypothalamic hamartoma is a form of brain tumour which can result in various types of seizures with varying outcomes. Follow the stories, of CJ, Grace, Charlie and Carrie 

Hope for hypothalamic hamartomas

eSNORE understanding the impact of sleep disorders on epilepsy written by Dr Stacey Bissell postdoctorate research fellow at the Richards Lab and Cerebra Network for Neurodevelopmental Disorders, University of Birmingham 

Esnore understanding the impact of sleep disorders on epilepsy 

Early development in tuberous sclerosis (EDiTS) study 

Dr Pooja Takhar talks us through her work on the EDiTS study which is aiming to better understand the impact of tuberous sclerosis on early development in infants, and how they hope the outcomes of the study will guide future early interventions

Early development in tuberous sclerosis

Ketogenic dietary therapies for drug resistant, rare and complex epilepsies

Emma founded Matthew’s Friends charity for medical ketogenic dietary therapies in 2004 following her own son’s response whilst on the diet. Emma has worked full-time in this field for 20 years and has supported thousands of families. She is a leading advocate for medical ketogenic therapies, an International Patron of Diets for Epilepsy in India, as well as serving on the Executive Board for the Global Symposia for Ketogenic Dietary Therapies and The Lancet Commission for Epilepsy. 

Ketogenic dietary therapies 

RARE or not – we’re in this together 

Founder and CEO, Epilepsy Sparks, Torie Robinson has lived with epilepsy since childhood and is using her voice to ensure that no one falls through the cracks and that the rare and non-rare community continue to learn from each other through shared experience and common ground 

Rare or not – we’re in this together 

Six in Ten with Gabriele Lignani 

Torie Robinson of Epilepsy Sparks interviews senior research fellow at UCL, Dr Gabriele Lignani who is developing innovative gene therapy treatments for intractable neurological diseases forging ahead for a breakthrough in Dravet syndrome 

Six in Ten – Gabriele Lignani

The challenges in patient research recruitment 

With over a decade of experience in market research, director of Hawkins Research, Gemma Hawkins talks about the challenges of engaging patients in the process and how the sector needs to work together to build confidence and strengthen relationships to ensure more consistent outcomes 

The challenges in patient research recruitment

Evidence based advocacy and why it matters 

Jamie O’Hara, founder of HCD Economics understands well the importance of evidence based advocacy in ensuring rare disease patients have access to appropriate healthcare. Jamie talks about why this matters and how it can help drive health equity 

Evidence based advocacy 

Fighting for our champs 

Like many in rare disease, Jeff D’Angelo is in a race against time to find a treatment for his son JJ. This sense of urgency led to the formation of the Champ 1 Foundation, who are driving clinical research with the laser focused mission to improve lives of those affected by Champ 1 gene disorders 

Fighting for our champs 

Patient registries – myths vs. fact 

Starting a patient registry can feel like a daunting task on your to-do list. Here are some of the common myths debunked to help you look ahead to market place solutions with increased confidence 

Myths vrs Facts 

Industry Insights with columnist Jonathan Morton of Comradis 

Patient information for rare epilepsies: what’s out there? 

 Industry Insights

Resident Columnist, Richard Gelati brings you this editions #RARERamblings

Richard is a veteran of rare disease having lived with CIDP for nearly 40 years. Richard writes exclusively for RARE Revolution, and his column is an insightful and often humorous musing on life with a rare disease. We hope you enjoy his RARE Ramblings! The cycle of life. 

RARE Ramblings – Cycle of life

Columnist and RARE Tech guru Sean Gordon brings us his column ‘Artificial intelligence – Offering hope for people with epilepsy’ The promise is that AI could provide early warning of seizures offering patients time to respond, better control over their lives and peace of mind. 

 RARE Tech – AI

Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start. 

Loving Large book review 

Charity news! With a little help from our industry friends is written by Allison Watson, co-founder and trustee, Ring20 Research and Support UK. Find out how Allison’s call to action regarding Whole Genome Sequencing was heard and has given her and the Ring20 community hope for the future. 

News – With a little help from our industry friends

The Health Advocacy Summit (HAS) hosted the first free international virtual summit to empower young-adult patients. The 10-hour summit involved more than 300 attendees with patients spanning over 160 different disease groups! 

 Events – HAS Come together

Ring chromosome 20 – educational comics developed by families for families 

In our winter 2019/20 edition, Issue 014 we featured Ring 20, the charity who were working with families to develop their own suite of educational resources. It is wonderful to catch up with them, less than a year later to find out how their project has evolved. 

News – Ring 20 Educational comics for families by families 

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