Stephanie: 'Giving my little girl a voice'
Published: 02 February 2023
I am mum and full-time carer to a little girl called Maisie-May. She has a rare genetic condition called Wolf-Hirschhorn syndrome, a key symptom of which is epilepsy. Maisie has experienced seizures from just a few weeks old, which is when her long journey trialing different anti-seizure medications (ASMs) began. In just four short years Maisie has taught us many life lessons – sassiness can far outweigh size, diagnosis does not define you and you can speak the same language without ever using words. But by far the biggest learning curve in raising my daughter has been navigating her intractable epilepsy.
I have witnessed firsthand the negative and life-threatening impact epilepsy can have. In the early years of being a first-time mother, whilst figuring out how to change a nappy or introduce a bedtime schedule, I was also learning how to administer rescue medication and how to distinguish a seizure from postictal state (the period immediately following a seizure). As a family we spent many hours in the hospital with clinicians trying to understand Maisie’s complex epilepsy and gain control of her seizures.
As Maisie grew and taught us all about her unique ways, her epilepsy would suddenly change. Just as we thought we had a grasp on the patterns and nature of her seizures, they would unexpectedly alter and knock the wind out of our sails. When her epilepsy spiraled out of control – which it did many times – it led to ambulance rides to the Emergency Department, hours in status epilepticus and several weeks in hospital.
Eventually life became about balancing seizure control with quality of life. By the age of two, Maisie was on a cocktail of three ASMs and her epilepsy remained uncontrolled. ASMs come with many negative side effects. Too high a dosage would sedate Maisie and it would feel like she wasn’t here with us. With the dosage too low, seizures would take over, development would regress and we would live life on high alert. So, we found our happy medium and became at one with the fact that Maisie would have seizures every day. On a good day she would have 20 myoclonic jerk seizures, on a bad day she would have up to 100.
I have spent many hours researching epilepsy and keeping up to date with new research, tirelessly searching for ways to control Maisie’s epilepsy and improve her quality-of-life. When I received the invitation to take part in the UK Epilepsy Priority Setting Partnership’s (PSP) preliminary surveys I was thrilled to finally share my experience and contribute to making a change. I then learned of the opportunity to participate in the UK Epilepsy PSP Workshop and felt that I could add huge value by not only representing other parents like myself, but by giving my little girl a voice. I was proud to be in a room with such a diverse group of people that experience epilepsy in either a personal or professional capacity. Everyone had a unique perspective and the facilitators were clearly passionate about ensuring we all had an equal voice. We spent the day rotating in different groups and working tirelessly (and emotionally) to narrow down the 25 research priorities to the Top Ten. We had a facilitator for this shortlisting to ensure we came to a decision as a group and that every individual was heard. We received regular feedback and were all encouraged to share our personal experience.
It was refreshing to finally be involved in research into epilepsy. For so long I have searched for answers and never found any research relatable to our experience. I think it’s vital for the people affected by epilepsy to contribute to research because we witness the day-to-day impact it has on life. We access the treatments and we use the services.
Initially I was anxious to attend the workshop. I had never taken part in anything like this before and I didn’t know what to expect, but the process was so sensitively handled I came away feeling empowered and heard. The best part of the process was meeting such wonderful people with a shared passion and need for change. We were given a platform to sensitively share and debate and feel a real sense of achievement when we had finally selected the Top Ten. The process wasn’t taken lightly and as a collective we were thinking of the bigger picture – not just from our own perspective.
We have recently been trialing the ketogenic diet to manage Maisie’s seizures. And today marks 55 days seizure free! Maisie has now started reaching new milestones and is engaged with the world like never before. For three years not a day passed that Maisie didn’t have a seizure. Although it’s early days we’re hopeful this is the beginning of a future where Maisie’s epilepsy doesn’t control her life.
Research into epilepsy has long been underfunded and the impact it has on lives underestimated. As a mother who only wants the best for her daughter, feeling left with either accepting that my daughter will have seizures every day or reducing seizures whilst allowing drugs to sedate her to the point of disinterest, feels absurd. Answering the questions listed in the Top Ten priorities will change and improve lives. I only hope now that, as a result of the hard work of all the people involved in this vital process, these crucial questions can receive the necessary funding to begin the research and achieve life-changing outcomes.
This piece was originally published on the Epilepsy Research UK website. See the charity’s Research Blog for more information.
More JLA news
Goodbye from Katherine: reflections on my 15 years with the JLA
A story from Malawi: Going the extra mile for the Global Burn Injury PSP
The Canadian Myeloma PSP: Funding Opportunity and Current Research