Meet Emma

Shortly after Emma was born, we noticed she was acting very odd and realized she was having seizures. This prompted us on a path where we bounced around from one hospital to another until we ended up in Fort Worth in the NICU of Cook Children's Hospital. It was about two months when we finally got Emma's genetic results. The Neurologist, Geneticist, Case Manager and Counsellor all came into her NICU room and sat down with me. Even with everything the Neurologist told me that day, I knew our Emma was going to defy the odds. This set us on yet another whirlwind though, even with an answer to what the cause of her seizures was. To then find a comfortable combination of seizure medications, to attempt to manage our poor little girl's seizures. High doses of Phenobarbital appeared to be the only solution however, it made our little princess oh so sleepy. We consulted the Neurologist, who got us eventually on a variety of seizure medications. One that controls the clustering, on that controls the Grand Mals, one which manages the Neurogenic pain. Not to mention the other medications, keto diet, that have been prescribed to manage heart rate, reflux and so many other things. When we first got our diagnosis in 2018, there was very limited information on KCNT1. Even with all of the medical challenges our Emma has been through, we have some of the most beautiful days! The squeals of joy, smiles, the best snuggles, family movie nights, and our list goes on of wonderful things our family gets to do and experience every day with Emma.