Nicole Watson – mother and caregiver to seven-year-old daughter Emma, who is living with a severe, life-threatening and rare form of epilepsy called Dravet syndrome (DS) – is accustomed to being “always on,” knowing a seizure can happen at any moment. Her daughter could be having the most perfect day and then, out of nowhere, she may start seizing. 

The constant care needed for this progressive and unpredictable condition can cause fear and uncertainty for those who experience seizures and those who care for them.¹ “I often feel like I don't have my own identity anymore. I'm Emma’s mom. I’m Emma’s caregiver. I’m Emma’s best friend,” Nicole shares. 

It is crucial that healthcare providers consider the lived experiences of people with DS when determining treatment options. This requires an expansion of how we understand DS, scientifically and anecdotally, to better address unmet needs, improve quality of life, and better understand the real-world experiences, burdens, and needs of both people with DS and their caregivers. 

Understanding the challenges of Dravet syndrome
DS, which is a form of developmental and epileptic encephalopathy (DEE), impacts 1 in 15,700 people in the U.S.² It typically develops in childhood and results in frequent and difficult-to-treat seizures.³

People with DS experience a variety of complications, including frequent and prolonged seizures, significant behavioral and developmental delays, movement and balance issues, and sleep difficulties. Currently, fewer than 10% of people with DS are able to achieve freedom from their persistent seizures.^4-6 These ongoing challenges can also lead to stress, anxiety, and sleep problems for their caregivers and families, as the condition often requires consistent and lifelong management to mitigate the dangerous side effects and detrimental impacts on quality of life.⁷

“It’s an awful and sad way to live – you just want to keep your child alive. No one should ever have to think about having their child pass at a young age,” Nicole says. 

The most common cause of mortality in people with DS is sudden unexplained death in epilepsy (SUDEP).⁸ In 2023, UCB conducted research to understand and learn more about caregiver needs and experiences and neurologists’ attitudes and behaviors toward SUDEP conversations.⁹ A systematic literature review of studies found a gap between what people living with epilepsy and their caregivers want regarding information about SUDEP and the information shared with them by their neurologists.⁹

While many neurologists reported not actively discussing SUDEP to avoid causing fear or negative emotions, data show that patients and caregivers want to have more proactive discussions about SUDEP to provide them with the opportunity to take preventive measures. Increasing education for people with epilepsy and their caregivers about SUDEP, as well as providing neurologists with support and training to become adept at initiating these difficult discussions, is critical to help build a trusting partnership to enhance epilepsy management and, in turn, reduce the risks of SUDEP. ⁹

Finding a new normal after a long treatment journey 
While those living with DS face many challenges, there are treatments available that can help to reduce the seizures associated with the disease and offer patients hope for better outcomes and a better quality of life.¹⁰

Emma Watson experienced her first seizure when she was only four months old. Her parents immediately sought help from their pediatrician, but “Emma was never prescribed any medicines, and we didn’t know any better,” notes Nicole. “A year later, she was still having seizures and, despite assurances from our doctor that this was normal, we felt strongly that something was wrong. We found a neurologist who confirmed that she had the SCN1A gene mutation and diagnosed Emma with DS after her first birthday.” 

After starting on a new treatment Emma began having fewer seizures and even periods of no seizures. “Last year, we couldn't even think of taking Emma out of the house. She wasn't happy, she wasn't talking, and she was a shell of herself,” Nicole says. “Now, it has been incredible to be able to see her do things that haven't ever been possible before. It's the little things that make her so happy. She says her name and calls me ‘mom.’ She can voice what she wants. I can’t believe that today, at seven years old, she is starting to live life.” 

Driving better health and quality of life for patients and their caregivers 
People with DS need care management options that not only result in seizure frequency reduction but also lead to meaningful improvements in everyday life – not just for the person with DS, but also for their caregivers, who like Nicole, play many different roles in the family.

There is a significant need for support to facilitate future medical, legal, and financial planning, ensuring caregivers have access to support at every step of the journey. In fact, data from a survey, conducted by UCB of parents and adult siblings of people with rare epilepsy syndromes, found that 53% did not have information available to them regarding long-term care. They shared frustration regarding finding support and resources and concern about how their loved ones will be supported as they transition into adulthood.¹¹

Breaking barriers to better care for the epilepsy community  
Patients and caregivers, like the Watson family, should be able to access support during their care journeys. This includes increasing access to appropriate treatment options and empowering them through support offerings, advocacy, affordability programs, education, and more.  

These insights and frustrations felt by families drive the work UCB does to partner with our advocacy organizations. We now offer new ways for the community to connect, raising awareness about the challenges faced by caregivers each day, giving a space to offer one another support. 

In 2018, UCB partnered with the LGS Foundation and Dravet Syndrome Foundation to compile the Siblings Voices Survey to assess how children adapt to growing up with siblings living with a rare epilepsy syndrome. Grounded in this community insight, the VIP Siblings Project supports people who have a brother or sister with a rare epilepsy syndrome. These siblings are often unselfish, dedicated, and able to see past the challenges, exhibiting understanding and compassion beyond their years. The education provided by the program helps families not only make better informed decisions about their loved ones’ care, but also have more space to care for themselves.

“While her life might look anything but normal, my daughter embraces every day with love in her heart and a smile on her face,” says Nicole. 

References:

1. Domaradzki J, Walkowiak D. Caring for Children with Dravet Syndrome: Exploring the Daily Challenges of Family Caregivers. MDPI Children (Basel). 2023;10(8):1410. 
2. Wu YW, Sullivan J, McDaniel S, et al. Incidence of Dravet Syndrome in a US Population. Pediatrics. 2015;136(5):e1310-5. 
3. Catarino CB, Liu J, Liagkouras I, et al. Dravet syndrome as epileptic encephalopathy: Evidence from long-term course and neuropathy. Brain. 2011;134(10):2983-3010.
4. Lagae L, Brambilla I, Mingorance A, et al. Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey. Dev Med Child Neurol. 2018;60(1):63-72. 
5. Dravet, C. The core Dravet syndrome phenotype. Epilepsia. 2011;52(s2):3-9. 
6. Dravet Syndrome Foundation. Dravet Syndrome is More than Seizures. Available at: https://dravetfoundation.org/what-is-dravet-syndrome/ Accessed Ma7 2024.
7. Salom R, Aras LM, Piñero J, Duñabeitia JA. The psychosocial impact of caring for children with Dravet Syndrome. Epilepsy Behav Rep. 2023;24:100619.
8. Cooper, M.S., Mcintosh A, Crompton D.S., et al. Mortality in Dravet syndrome. Epilepsy Research. 2016;128:42-47
9. Luker J, et al. Bridging the gap between neurologists and people with epilepsy/caregivers: systematic literature review about SUDEP conversations. Poster presented at American Epilepsy Society Annual Meeting; December 1-5, 2023; Orlando, Florida.
10. Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J. International consensus on diagnosis and management of Dravet syndrome. Epilepsia. 2022 Jul;63(7):1761-1777. 
11. Laurie D Bailey, et al. A survey of rare epilepsy parents and adult siblings: to assess resources needed to prepare families living in the U.S. for long-term adult care planning for their loved. Poster presented at American Epilepsy Society Annual Meeting; December 1-5, 2023; Orlando, Florida.

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