Josephine (Josie) was born via C-Section on August 26, 2003, weighing 8 pounds exactly. A beautiful and energetic baby, Josie came into the world bright-eyed, engaged, and observant. She loved bright colors and books, music and movement.
Josie developed normally until the age of 3 months, at which time she began having complex partial seizures. The seizures are a result of malformations of her brain. She is also missing her corpus callosum, the bundle of nerves that connect the hemispheres of the brain. Both the brain abnormalities and the seizures are markers of Aicardi Syndrome, a rare and often devastating genetic disorder that affects girls and, very rarely, boys with Klinefelter syndrome (XXY). Even if she had not had seizures, the syndrome could have fostered various mental and physical delays. As it is, Josie has left-side hemiplegia, causing weakness throughout the left side of her body that is exacerbated by seizures.
When Josie began having seizures, they numbered as many as 40 per day. Over time, the events took on different forms, changing to clusters of seizures akin to infantile spasms. For the first year of her life, Josie suffered with as many as 20 such clusters, many lasting 10-30 minutes. During this time, we tried five medications (Phenobarbitol, Vigabatrin, Keppra, Topomax, and Zonogran), all with little or no positive benefit. Between the constant seizing and heavy drug load, Josie retreated into a stupor. It was devastating to her development.
At the age of one, we were lucky to find, with the guidance of Josie’s doctor, the first drug to make a dent in her seizures: Clobazam, a non-formulary medication available only from abroad. Next, she went on the Ketogenic Diet, and gained another very important measure of control. Thanks to the diet, we were able to reduce the number and levels of the drugs, and with that, Jo began to wake up and develop—very, very slowly. Daily seizures were still a major feature of her life, but in between she was able to connect with others and grow. Since then, she has tried two other drugs—Lyrica, which was a failure, and Sulthiame, which may be helping, though the jury is still out.
Josie is a wonderful, loving, energetic, and determined little girl. She attends a great special-ed preschool in Chicago, and gets loads of therapies to encourage her continuing growth. She sits up independently, but cannot walk nor crawl; she “talks” to us, but not in a language that most people would recognize!! She loves music, Elmo, and anything with a rattle. What is amazing is that despite the unbelievable challenges she is facing, she has an energy and spirit that never ceases to inspire her family and friends.