Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.
Breaking Barriers: How Nicole and Emma Offer Hope Amidst a Dravet Syndrome Diagnosis
In a world where every milestone is cherished, it can feel daunting when your child’s milestones seem potentially out of reach.
For Nicole, this became a reality when her daughter Emma—a genuine beacon of joy and light—was diagnosed with Dravet syndrome, a rare genetic form of severe epilepsy, at four months old.
Suddenly Nicole was thrust into the role of an infertility warrior turned champion for her child’s well-being. Through the chaos of medical appointments and sleepless nights, Nicole refused to surrender to despair. Instead, she channeled her love into a relentless pursuit of hope.
Now, at seven years old, Emma’s resilience mirrors her mother’s unwavering determination. Says Nicole:
“Emma is the most empathetic, sweetest, kindest, and most loving child I’ve ever met. Regardless of what she’s been through, she always has a smile on her face, a hug, and a desire to listen. She loves being around people and has the ability to make you feel like everything is okay. Emma plays with her Barbies and her Encanto dolls. She’s not angry or sad, just incredibly amazing. Everyday she brings me happiness and hope. I’m so happy that she’s ours.”
Nicole and Emma’s story is about more than just their journey; it’s about inspiring hope for other families grappling with the uncertainty of a Dravet syndrome diagnosis. Through sharing their insights, Nicole and Emma have offered invaluable support, understanding, and optimism to those in the community.
Recently, Nicole spoke with Patient Worthy about her family’s Dravet syndrome journey, the importance of advocacy, and advice for others who are facing a new diagnosis.
Welcoming Emma
Nicole and her husband initially struggled with infertility when trying to conceive. Driven to start their family, they made the decision to undergo fertility treatments. Nicole was nothing less than thrilled when the treatments worked. She was pregnant!
After a normal pregnancy and birth, Nicole and her husband welcomed Emma into the world. Their daughter was more beautiful than they could have ever imagined. The family had no idea that tough times were bubbling on the horizon.
On her first day back to work from maternity leave, Nicole’s life changed in an unexpected way. At 5am, Emma had a tonic-clonic seizure that lasted for more than 30 minutes; this is considered status epilepticus, a serious medical emergency. Nicole explains:
“We don’t have any history of epilepsy in our family so we didn’t even recognize that it was a seizure at first. My husband and I rushed Emma, while she was still seizing, to the hospital. They told us that it was a temperature-related febrile seizure and that Emma had a UTI.”
After one week in the hospital and significant testing, the family was referred to the neurologist at the Children’s Hospital of Philadelphia (CHOP). Unfortunately, rather than finding answers, the family found roadblocks. Says Nicole:
“They told us that kids have seizures and it wasn’t a big deal, that Emma would probably never have another seizure. Except the next month, she had another UTI and another 30-minute seizure. For the first year of her life, this happened over and over again: UTIs and febrile seizures. We were never prescribed any medications for her seizures and never given any answers.”
Despite her seizures, Emma seemed to be developing ahead of schedule. She walked before her first birthday; she babbled, saying “dada.” But each seizure increasingly worried her parents. Eventually, Emma’s pediatrician recommended that the family get care at Nemours Children’s Health rather than CHOP.
It was this recommendation that transformed the family’s lives—and finally put them on a path towards diagnosis.
Undergoing Genetic Testing
When Nicole told doctors at Nemours about Emma’s seizures, they listened. In fact, says Nicole, the doctors even had an idea of what was going on:
“They told us that they thought Emma had the SCN1A mutation associated with Dravet syndrome. It had been awful watching my child dealing with these seizures. At Nemours, it was a relief for someone to listen and to affirm that this was a big deal. They started her on medication right away and gave us rescue medication so that we could manage her seizures while they waited for the genetic test to confirm the diagnosis.”
The test confirmed that Emma had Dravet syndrome. Her mutation is de novo, meaning that it occurred spontaneously; neither Nicole nor her husband are carriers. Nicole shares:
“This is the case for many children with Dravet syndrome, where they are the first known carrier of the gene or “Denovo” with the genetic mutation and it isn’t hereditary.”
Shock and denial: the first two emotions that welled up in Nicole after the diagnosis. Unlike some children with Dravet syndrome, Emma crawled, walked, and made eye contact as an infant. Nicole was told that her daughter didn’t “fit the mold” for Dravet syndrome as her symptoms weren’t very severe. The family went home uncertain of how Dravet syndrome would impact Emma’s life—and what living with Dravet syndrome even entailed. Nicole shares:
“I did a lot of research myself, but we were still in denial for years. Whenever we read about Dravet syndrome, we felt like the available information made it feel like such a devastating diagnosis. That isn’t what we wanted to think Emma’s life would be.”
What to Know: Dravet Syndrome
As Nicole mentioned, it can be frightening to search for information about a rare condition online. Oftentimes information can be portrayed inaccurately or sways towards the more severe or traumatic end of the spectrum. Below, we’re setting the record straight on Dravet syndrome and what you should know about this condition.
What is Dravet syndrome? Dravet syndrome is a rare developmental and epileptic encephalopathy that causes severe and difficult-to-treat seizures. This lifelong condition often develops in the first year of infancy.
How many people does Dravet syndrome affect? An estimated 1 in every 15,700 U.S. citizens has Dravet syndrome.
What are the symptoms or characteristics of Dravet syndrome? People with Dravet syndrome experience frequent and prolonged febrile and non-febrile seizures that may progress to other forms of seizures, such as myoclonic and partial seizures. Additional characteristics include movement and balance issues, ataxia, sleeping difficulties, chronic infections, dysautonomia, and behavioral and developmental delays.
Is Dravet syndrome fatal? Unfortunately, the current mortality rate of Dravet syndrome is 15-20% by age 20 often due to infections, seizure-related complications, prolonged seizures, and sudden unexplained death in epilepsy (SUDEP). Continued research into Dravet syndrome and potential therapeutic interventions could significantly transform the treatment landscape, and outcomes, for people living with Dravet syndrome.
Learn more about Dravet syndrome from the Dravet Syndrome Foundation.
Managing Grief
Many people think about grief as something to be hidden or suppressed. But acknowledging and expressing your emotions is an essential part of healing, allowing you to navigate your feelings authentically and vulnerably.
In Nicole’s case, and like many parents and caregivers of children with rare conditions, her grief initially manifested in grieving the life she thought she would have. She shares:
“It can be difficult to compare how your child is progressing to another family, or to think about ‘why me?’ questions that pop up along the way. I think it would have been helpful during diagnosis for the hospital to share information on grief counseling or to point you in the direction of the Dravet Syndrome Foundation—just to know that you’re not alone. There’s other people out there who you can speak with. You’re not on your own island. I wish I would have been directed to someone knowledgeable who could have told me that Dravet syndrome changes every year for the first five years or so .Would I still have gone through the grieving process? Yes, you have to. But I would have felt less alone.”
Nicole wants other families to recognize that grieving for your child or grieving the life you thought you’d have is part of the process. But, she says as a reminder, it’s important to not let the grief become all-consuming. She explains:
“It’s okay to grieve. It is completely normal. You’re going to have to go through the highs and the lows. But acknowledge and appreciate that this is your life. It’s a different life, and sometimes a difficult one, but it’s still awesome. Look at your child. Appreciate the little things. Live in the moment. Be open to talking to others. Most of all, never lose sight of hope.”
Becoming an Advocate
Although her research into Dravet syndrome was not all positive, it did introduce Nicole to the Dravet Syndrome Foundation, Dr. Linda Laux at Lurie Children’s in Chicago, and numerous other families on social media. This provided invaluable insight into Dravet syndrome—and more support than Nicole could have ever hoped for. In 2024, she’ll even attend the Dravet Syndrome Foundation Conference in-person (for the first time!) and can’t wait to meet all of her friends and their children.
Nicole now consistently seeks out ways to become a better advocate: for herself, for Emma, and for the entire Dravet syndrome community. Last year, she joined other moms in running fundraisers for the Dravet Syndrome Foundation; she raised $189,000 last year, contributing to a total amount of $1,500,000. These funds assist the Dravet Syndrome Foundation in supporting families and advancing research into potential new therapies. Nicole says:
“As parents, we’re the ones who can try to help our kids’ futures. If everybody does a little something, think of what we could accomplish. I’m on the advocacy train and there’s no going backwards. If I can do something, I will. I’m trying to host things. To push for research. To teach my friends and their kids about epilepsy. If we don’t talk about it, people don’t know. I believe that the push for awareness and research starts with people understanding.”
Embodying Emma’s Positive Perspective
When Nicole thinks about what inspires her advocacy, she always comes back to Emma. Her daughter is bright, bubbly, and positive. She remains upbeat even when faced with challenges—and she’s had her fair share. In 2022, Emma’s seizures were poorly controlled, happening whenever Emma was excited, hot, or sick. There seemed to be no freedom from the relentless episodes.
But 2022 also brought promise with Fintepla. Adding this therapy to Emma’s treatment regimen seemed to stop her seizures. Suddenly, the family was able to allow Emma more experiences, going to the shore or spending more time outside. Nicole shares:
“Emma will always have seizures—that’s part of her life. But this therapy has vastly improved her quality-of-life and her happiness. Emma started talking in August 2022 and has just not stopped. What she wanted to communicate has always been inside of her and unable to get out. I love seeing her light up now that people can understand her. I let her play in the snow and, yes, I was holding my breath the entire time, but it’s incredible to see her experience more. Our life today is amazing. We feel like we can breathe. She’s thriving. And even when she does have seizures, she turns everything into a positive spin. She puts life into perspective for us as parents: how to move on from trauma and live in the moment, not in fear.”
Of course, embracing life without fear can be tough, especially when you’re faced with uncertainty. But I believe that we could all use some more positivity, some more perspective, just like Emma’s.
And for the families out there who are facing their own new diagnosis, Nicole urges you to embrace that positive perspective too. To those who are feeling overwhelmed, remember, she says:
“For as anxious and nervous as you are as a Dravet parent, allow your kids to live. I know what it feels like to want to keep them in a bubble. But it’s incredibly meaningful to let them experience life. It may not be in the same way that other families do. You have to learn not to compare yourself to everybody else. The diagnosis changes you; you’re never going to be like you were before. But you learn to pivot. You learn to shift and move. To take on life understanding all that you have, all the beauty in front of you. You learn to hold on to hope.”
