Our Beautiful, Spunky GRIA3 Girl

Jaydan is amazing. She is a loving, caring, hilarious daughter, sister and friend. Jaydan is nine years old and is doing rather well now, considering her challenges, but her story didn’t start this way.

Jaydan was a bit late hitting certain milestones. She walked at 14 months, didn’t speak full sentences until age 3, always had bad balance and we knew from age 2 that she was a bit behind her peers. We were told it was nothing to worry about and all kids develop at their own pace, but as a parent sometimes you just know something is off.

When Jaydan was six, we woke up one morning to her having a seizure that lasted eight minutes. She had some febrile seizures when she was younger, so we immediately checked her temperature. She didn’t have a fever, so we knew this episode was different. We saw a local neurologist and we trial (and errored) a few medications and then were referred to the University of Iowa Children’s Hospital. Her neurology team is amazing. Over a few months they put her through a gauntlet of tests, many of which came back normal. We trial (and errored) what feels like almost every epilepsy medication and as a last resort they recommended testing her entire gene panel which is where the found her GRIA3 genetic mutation. The world stopped.

What does this mean for her? What does this mean for us as a family? Can she ever get better? What does her future look like? Why her? There are so few individuals with this mutation so unfortunately her medical team wasn’t able to answer many of our questions. We did quite a bit of research on our own and found that Jaydan’s symptoms checked all of the GRIA3 symptom boxes. Epilepsy, intellectual disability, behavior problems, regressed learning, low muscle tone and bad balance were all present, with epilepsy being the biggest challenge. Now that we had a diagnosis, we took that to the Mayo Clinic neurology team and now we have Mayo and the University of Iowa teams working together to help Jaydan in her journey.

Jaydan’s epilepsy consists of tonic clonic and myoclonic seizures as well as ESES/CSWS (constant brain spike waves when sleeping and awake). The myoclonic seizures are always present. The tonic clonic have been well controlled now that we found the right medicine cocktail and, miraculously her ESES has dramatically improved due to an experimental treatment her doctors suggested and administered, which was a series of steroid and IVIG infusions). With the improvement of her ESES, we have noticed a dramatic improvement in her cognition, behavior and she has begun progressing in her learning and development which we are so thankful for.

Whenever asked what Jaydan wants to be when she grows up, the answer is always a mom. She is so loving and caring with her babies, and loves to be a helper at home and at school. She loves to sing, dance and play with her big brother. Jaydan is so strong and such a wonderful, beautiful little girl.

We are fortunate to be part of the GRIN group and will continue to advocate for the group. For those newly diagnosed families, our advice is to be the best advocate for your GRI kid. If something doesn’t feel right, speak up, keep digging. This is a marathon we are all running together and our kids are some of the first documented cases of this. We have all asked the question “what can we expect for our child’s future?” and once you are able to come to peace with the fact that you won’t get that answer, you can shift your energy from worrying about the unknown and put that energy towards supporting others in their unknown journey, supporting the amazing researchers and doctors and of course doing everything you can to make your child’s life as normal and fulfilling as possible.