Jen Marasco-Kuhn
Verona, PA
Can you share your journey of receiving your loved one’s diagnosis of Dravet syndrome?
Our journey mirrors that of many other rare families, moving from the joy of a newborn to the shock of an unexpected medical event, and then to the frustration, fear, and uncertainty of navigating an unfamiliar and complex healthcare system. Cora’s experience was compounded by an extra layer of fear, as she was born during the 2020 pandemic, making the medical world even more daunting and confusing. Born in April with two small heart defects, we were already being extra cautious due to COVID. Fortunately, those cleared up by the time she was 4 months old. But at 5 months, out of nowhere, she had her first seizure.
We rushed to the hospital for numerous tests and scans, but the one test that could have provided answers—a genetic test—wasn’t done. We were discharged without any explanation, told the seizure was a fluke, and asked to return in a month for a sedated MRI. Less than 30 days later, Cora had another seizure following her 6-month vaccines, which had caused a fever. She was diagnosed with a seizure disorder and given medication for future vaccines, but no real answers.
Her third seizure occurred within two months, finally showing abnormal EEG results, leading to an epilepsy diagnosis. We were prescribed Keppra and handed a folder of epilepsy information with an invitation to call with questions. Then, just a month later, Cora had her first seizure that wouldn’t stop on its own. It lasted an hour and required emergency medical intervention.
At that hospitalization, we demanded answers, which led to genetic testing and the eventual diagnosis of an SCN1A genetic mutation. It took over 4.5 months from her first seizure to get an accurate diagnosis and find a competent medical team for her care. Unfortunately, during the waiting period between receiving her diagnosis over the phone and our follow-up genetics appointment, Cora experienced a severe seizure. This resulted in aspiration, an uncontrollable 5.5-hour seizure, a code blue, and an 11-day hospitalization, including our first stay in the PICU. This was our introduction to SCN1A Dravet syndrome.
What are some of the biggest challenges you’ve faced as a caregiver?
Managing an unexpected medical crisis with a newborn during a pandemic, while also caring for a toddler, was overwhelming. The uncertainty of the future presents an ongoing challenge, making it difficult to plan and manage emotions. Both my husband and I changed careers and restructured our entire lives to adapt to caring for Cora. Finding balance among the many roles I now juggle is one of the biggest hurdles. Everything demands 100% of my attention, but there simply isn’t enough time or energy, so prioritizing, rearranging, and making sacrifices have become part of daily life. Learning to live with the unpredictable has been a major adjustment—”pivot” became my most-used word during the first two years after Cora’s diagnosis.
How has Dravet syndrome impacted you and your family's daily life and routine?
The better question would be how HASN’T Dravet Syndrome impacted me and my family? As I said above, my husband and I both switched careers to manage living with Dravet. We established nursing care for Cora which is a key support to our life; however, that means having extra people in our home and lives over 40+ hours a week. Cora’s health can disrupt the very delicate balance we have with daily life and routines. If an illness hits or a seizure strikes, everything freezes and we go into a very different mode. We try to maintain activities and involvement with friends, family, and interests as much as we can; however, they can be severely disrupted due to health or due to precautions related to health. All activities involve extra planning and bringing extra stuff, like her medical bags, specialized food, weather-appropriate gear, and behavioral redirection tools.
What advice would you give to a new caregiver whose loved one has just received a Dravet syndrome diagnosis?
- If you are going to a scheduled meeting to learn the information (highly recommend than over the phone or through a health portal), bring a support person so they can absorb information for you and support you.
- Hug your sweet person and try not to see their future before it is written.
- Try to allow yourself to feel all the feelings.
- Try not to overwhelm yourself with too much personal research or reading stories that may scare you.
- Find someone to confide in.
- Start a list of questions so when they pop in, you will remember to ask the appropriate people as you meet them.
Are there any specific resources, organizations, or individuals that have been particularly helpful to you?
Here are some valuable resources I recommend:
- The Dravet Syndrome Foundation and their Facebook group for caregivers – absolute lifesavers!
- Check out your local Epilepsy Foundation chapter for support and resources.
- Hannahtopia offers great medical gear, especially EEG caps, and is run by a fellow epilepsy mom who truly understands.
- The Danny Did Foundation and Chelsea Hutchinson Foundation are excellent for sleep safety resources.
- Explore resources through your local hospital, pediatrician, and neurologist/epileptologist, including a complex care coordinator.
- Inquire about early intervention support services.
- Once diagnosed, look into Medicaid insurance and ask about a special needs support coordinator.
- Check with your county’s special needs program to see if your family qualifies for additional assistance.
- Explore social media epilepsy communities on Instagram, Facebook, and TikTok for connection and support.
What moments or achievements have brought you hope and joy despite the challenges?
Despite the wild rollercoaster that Dravet Syndrome has put us on, we’ve been able to celebrate many moments that might seem small to others who aren’t living this life.
- Reaching milestones after developmental delays has been incredible. Hearing Cora speak, watching her walk, attempt to jump, feed herself, and play with others are all moments we celebrated deeply because we once feared they might never happen.
- After her first intubation and PICU stay at 9 months, hearing her cry and gasp for air brought an overwhelming sense of relief and gratitude after days of living in fear. Celebrating stretches of seizure freedom feels amazing and sometimes hard to believe.
- I’m proud that my husband and I have managed to return to work while still handling the many demands of daily life, including those brought on by Dravet Syndrome.
- I’m incredibly grateful for the relationships we’ve built through a shared understanding of this journey. The closeness and connection within this community are unlike anything else.
- Participating in research studies, medical trials, and testing model equipment designed to ease the burden on our kids and caregivers brings hope and encouragement.
- Raising funds and awareness for Dravet Syndrome as a DSF Caregiver Ambassador, feels like a proactive way to stay connected and support others in the community.
How do you manage the stress and emotional strain that comes with caregiving?
I strongly recommend several coping strategies:
- Join the Dravet Caregiver Support Group on Facebook.
- Take things one day at a time.
- Practice finding things to be grateful for.
- Keep a journal to process your experiences and reflect later.
- Seek therapy for yourself.
- Encourage therapy for your significant other, if applicable.
- Consider periodic couples counseling to maintain open communication and manage the emotional challenges that caregiving brings.
- Provide emotional support for siblings, including age-appropriate resources like books.
- Maintain open communication with family and friends about your journey to reduce feelings of isolation.
- Prioritize time for yourself, your partner, and your other children (if applicable) whenever possible.
In what ways has Dravet Syndrome Foundation (DSF) supported you and your family?
The Dravet Syndrome Foundation (DSF) community truly saved our warrior’s life and preserved my sanity during those early days of diagnosis. They provided a safe space filled with invaluable guidance and support to help navigate this complex journey. We’ve benefited from the newly diagnosed kits, super sibling resources to help our older child cope with having a rare sibling, and offered a variety of ways to connect with others—whether through the Facebook group, virtual support meetings, in-person events, or incredible conferences. DSF also offered great support and guidance for getting involved in fundraising, which allowed me to create the Dye it for Dravet fundraiser along with participating in other fundraising events. DSF has helped empower our family to be advocates by sharing research studies and other opportunities to make a difference.
What message or piece of wisdom would you like to share with the broader Dravet syndrome community?
Our community has made incredible progress in such a short time, driven by the love and determination of parents and caregivers. This group has tirelessly advocated to ensure that the medical, pharmaceutical, and political sectors understand and care about the experiences of our families and Dravet warriors. I have hope and faith that we will see a cure in our lifetime.
Can you describe a moment when you felt particularly supported by DSF and/or the Dravet syndrome community?
There have been many challenging moments, but in times of extreme crisis and uncertainty—especially in the middle of the night, whether in the hospital or grappling with difficult emotions—I’ve been able to turn to the DSF community and other support networks for guidance and encouragement. Their support has made a significant difference in our outcomes and has inspired me to give back.
