Penny was born in April 2011 and was diagnosed with AS in July 2011 at Weill Cornell Medical Center after experiencing seizures. She started having infantile spasms later that month, and by August 2011, she was having about 15-20 spasms per day.
We went through ACTH, wheich got the spasms down to a more manageable-but-still-bad 5 per day, but her development had halted and her smile disappeared. She developed an expressionless face that would remain for months. As did many parents of AS girls, we ran the gamut of drugs, including Phenobarbitol, Topamax, Klonopin, Depakote, and Clobazam. Finally, in February, we tried the Ketogenic Diet, and the results were practically miraculous. Her spasms all but disappeared immediately, dropping from 5 per day to less than twice per month. He smile returned, and she now spends her days smiling, laughing, and vocalizing.
Penny is making modest developmental gains but is still very far behind. She recently started at Hagedorn Little Village School, an amazing center where she gets three hours of individual attention per day. Every week, Penny has over a dozen therapy sessions that include multiple sessions of PT, OT, feeding therapy, vision therapy, and special education. Thankfully, she has not needed a g-tube, but she needs all of her fluids thickened to nectar consistency. She also cannot process table foods or chew very effectively yet, so all of her meals are spoon-fed. Constipation has been a bit of an issue, and she gets Miralax 3-4 times per week.
We have another appointment with her opthalmologist soon, but Penny's vision, while limited, is definitely there. She has a much easier time with contrasting colors and bright objects. She loves looking up at the trees and recognizes faces. She warmly greets her mom and dad as well as her teachers and babysitter.
Mobility and tone may be Penny's biggest challenge at the moment. At 18 months, she cannot yet sit up or roll over. She cannot grasp objects or pick anything up. Also, she has great difficulty reaching out and touching most objects. She does move all of her body, however, and we've even seen her make many efforts to crunch while lying to get into a sitting position. We just keep encouraging and helping her and use our patience until she can do it herself.
In the meantime, Penny's just the happiest kid you can imagine. While she hasn't developed any words, she makes tons of sounds, and has very distinct sounds for "I'm hungry," "I'm tired," and "hey, keep me entertained!" Among her favorite things are playing with strings of beads (for some reason the only thing she will reach for), being held, being sung to (and trying to sing along sometimes) and going for walks around the neighborhood. She also loves to eat and has been challenging us to get as creative as possible with the ketogenic diet. We've learned that she loves walnuts, pecans, pumpkin, berries, chicken, cheddar cheese, avocado, and bananas or strawberrys in heavy cream and butter.
Overall, she's a wonderful little girl with an indomitable spirit. She sees everything as a fun advernture and is always inquisitive about what's going on around her. We'll keep you updated on her progress.