Our daughter Kathryn Faith was born on February 24, 2011. She was a healthy 8 lb, 2 oz baby who actually got dismissed early from the hospital! We were anxious to be home with our 2 and ½ year old son, so we asked for early (24hr) dismissal. She was a typical baby, smiling, eating, happy to be with her family.
When she was 6 weeks old, she had a small (5 minute) episode where she had stiffening in her arm. We thought nothing of it, but when she was around 5 months old, she had an episode that looked like seizures (she was turned to one side and had small tremors.) We asked our pediatrician about it; he thought we should keep an eye on it and pursue it if it happened again. It did happen again, so we had an EEG, which was normal. At 7 months old, she had an episode that started out like the other episodes; her head was turned to one side, she had stiffening on one side of her body and it was accompanied by weird eye movements. We were admitted to the hospital, where she had a 24 hr EEG done along with other tests, with no conclusions. They transferred us to another hospital (Riley Children’s Hospital, Indianapolis, IN) where we stayed for 5 days, and had multiple tests done, including MRI, EEG, EMG, and a spinal tap. Kathryn slowly came out of the episode and we were dismissed with instructions to follow up with neurology in a year, but we still had no answers.
At 11 months, she had another serious episode, and we tried a different hospital (Cincinnati Children’s), where a neurology resident mentioned AHC as a possible diagnosis. We knew that it was a rare condition, but the symptoms seemed to fit, so our neurologist started Kathryn on Flunarizine. We were very fortunate that we were diagnosed early; Flunarizine has seemed to help the severity of the episodes, but not necessarily the frequency. Kathryn is fortunate to only have severe episodes every 2 weeks to a month, and they only last a couple of days. She will frequently get tired during an especially active day, and get weak on one side, but she is normally able to rest and regain her full capabilities.
Today Kathryn is a happy, walking 5 year old. Both her crawling and walking were delayed, but with early physical therapy intervention, she is almost able to keep up with her brother, Levi. Kathryn receives physical, occupational, and speech therapy. She uses sign language, and is attempting to say more words. Her favorite words are Dada, Mama, Bub, draw, snack, and juice. She is atypical with some of her speech and motor movements, but a very typical 5 year old otherwise!
She loves outside, and hearing books, and discovering with her big brother Levi.
She loves swinging and being outside, and doing anything her big brother is doing, like drawing, playing blocks, and wrestling. Levi returns the favor and will sit with her and have tea parties with their stuffed animals. We have noticed that most of her episodes start with her having a cold or flu; when her immune system is compromised we almost expect an episode. She is a beautiful, wonderful fighter. When she has an episode, and is paralyzed on one half of her body, she still tries to play and walk. During episodes, it is as if she is behind a screen and can’t move or talk, but she understands everything. So we are inspired to be hopeful and strong for her. And we know that with the strides researchers and doctors are making every day, there is an answer for her and all AHC kids.