Tell us about yourself and the Dravet patient in your life
This is Cora. She is a 2 year old sweet and sassy little lady. She is a pandemic baby! She has an older sister named Maggie. Her mommy is Jen and daddy is Chris. She has a pet dog named Lager and a fish named Lil’ Fella. We all live near Pittsburgh, PA! We enjoy singing and dancing to Disney songs, playing with her sister+friends+toys, swinging and playing outside in the water, and watching some of her favorite Disney movies (Tangled, Moana, Encanto, Frozen, Turning Red)! She loves cuddling and laughing which feels our heart to the brim!
When did the patient’s seizures begin?
Cora was a cuddly and easy baby. We were adjusting to life in the pandemic so it was just our little family for a few months together. On a normal day, we were playing in the living room when we noticed Cora making weird sounds and movements in her swing. She had left side weakness which we immediately thought was stroke; however, it was confirmed as a seizure with no precipitating cause. All the tests and bloodwork came back normal. We were sent home for follow up and to live life as normal as possible. Despite thinking we could never go back to normal, we fell into step until 25 days later, she had another seizure right after her 6 month vaccinations. It was similar to the first with presentation and length of time; however, this seizure was accompanied with a low grade fever. The doctors decided to give her a seizure disorder and gain monitor. We were given bridge medications for future vaccinations and illnesses. We went almost 2 months without seizures, but we had our third right around Christmas 2020. It was longer than the first two, and her EEG finally revealed some abnormal brain waves so she was given an epilepsy diagnosis, put on keppra and we were again sent home to adjust. We should have had genetic testing at that point, but we didn’t know enough and were shell shocked by the 3 month medical saga so we again fell into a normal step. January led to our first status seizure which meant medical intervention was needed to stop. We were confused and scared as we didn’t understand what was happening and it seemed doctors were in the dark as well. We demanded genetic testing and it took about 3 weeks to obtain the life altering results. Cora had been mostly developing normal for a baby at that point. She was diagnosed with a muscle strain in her neck so was ordered physical therapy through early intervention. After we were informed about the SCN1a genetic mutation, the referral to early intervention ended up being a bigger blessing than anticipated as we also qualified for occupational therapy, developmental play and eventually dietary consults. The EI team has been amazing to keeping Cora on point developing and helping our family monitor Cora’s progressive illness and watch for any regressions/plateaus. They were there after every hospitalization 2021 brought as we lost seizure control and ended up in the hospital 11 times that year, 3 being intensive care stays. This has been a very emotional ride with lots of ups and downs. We are so grateful for the DSF community, especially those in the support group who have cried, laughed, and cheered us on over the past year and a half.
What is your hope for the future of your loved one? For the Dravet community?
We are very hopeful for a cure in Cora’s lifetime! We are hopeful for the community that has been built and continues to grow and share their stories and their wealth of knowledge! We are hopeful that the medical field will partner more with the advocates of the Dravet community as we are experts in the lives of our children and only want the best for them!
What advice do you have for newly diagnosed Dravet families?
Ask questions! Get involved! Share your story! Trust your gut! Don’t blindly follow medical advice if it doesn’t feel right! Seek second opinions when needed! Look for all the resources for your Dravet baby and family! Don’t lose hope!