KCNT1 epilepsy is a rare genetic condition that causes severe seizures and developmental challenges in children, making daily life unpredictable for both patients and caregivers.
In recognition of Rare Disease Day, we spoke with a parent from the KCNT1 Epilepsy Foundation Family Support Group to learn more about their experiences, challenges, and sources of hope while caring for a child with KCNT1.
What does Rare Disease Day mean to you?
“Rare Disease Day is a unique opportunity to make KCNT1 known and shed light on the patience needed for managing the many seizures and symptoms that come with the disease.”
What are some of the challenges you face caring for a child with KCNT1?
“You never know what your day is going to bring. Every new day is an adventure, and you have to be prepared for everything. We know that there will be good days and bad days, and we have to know how to face them.”
What role has the KCNT1 family support group played in your life?
“I’ve learned a lot about the disease from the group and have received tremendous support, advice, and information about treatment. The family support group was the first place I saw other children and families living with this disease and began to envision what our life might look like. It was life-changing; it restored my hope and helped me set expectations for our future.”
How has connecting with other caregivers helped you on your journey?
“Connecting with other families has helped me keep going, no matter how hard it is. Many parents in the support group have become lifelong friends. They are the people who really ‘get it.’ Having friends check in on us, celebrate with us, and grieve with us has been incredibly meaningful throughout this journey.”
Where do you find strength or moments of hope?
“I find strength in the quiet, happy moments with my daughter. When I care for her and she looks up at me, I know that my role is sacred, which gives me the strength to keep going. I find hope in connecting with other families and sharing both our joys and our grief together. I know that we are working toward a brighter future for those living with KCNT1 epilepsy.”
If you could share one message with researchers and organizations working to develop rare disease treatment, what would it be?
“THANK YOU! Thanks to the people who work every day, who do not give up, and who have the ambition to achieve a treatment or cure for a better quality of life in this and many rare diseases.”
This Rare Disease Day, we honor the courage of patients and families affected by KCNT1 and all rare diseases. Their stories inspire us to continue raising awareness, deepen our understanding, and work towards a brighter future for those affected by rare diseases.
For more information about KCNT1, visit: Homepage | KCNT1 Epilepsy Foundation – Hope Is on the Horizon