my diagnosis

During the first year of development, Mom was concerned because I seemed to accomplish major milestones later than what is typical. She began to voice her concerns to my pediatrician who said what a lot of doctors say..."babies develop at their own pace". Mom was assured that I would do things in my own time. I learned to sit on my own at about 8 months, crawled on my hands and knees at about one year, and took my first independent steps on Thanksgiving Day (2002), when I was 17 months old.

Although Mom and Dad were so proud of me for learning to do all these things, Mom was getting more and more concerned that something else was wrong. She had read a lot of things on developmental delays, but nothing seemed to fit all of my characteristics. It was time to have a serious conversation with my pediatrician. He agreed that it would be a good idea to order an MRI of my head. As if pictures of my smiling face weren't enough, they decided to get some pictures of what was inside! On Decemeber 30, 2002, the results of the MRI were back, and everyone was surprised to learn what was really going on.

Although there are different terms to describe what I was born with, the most common umbrella term is lissencephaly. Lissencephaly is a birth defect that happens during brain development in the first/second trimester of prenatal development. Basically, a gene spontaneously mutated and disrupted the normal migration of cells to form all the little ridges and valleys of my brain. The front of my brain looks pretty good, but the back and sides are either smooth (agyria) or only have large folds (pachygyria).
Within lissencephaly, there are a lot of different types, and my type is called Isolated Lissencephaly Sequence (ILS). ILS means that I do not have any other underlying conditions except the improper brain development. Within ILS, there are "grades" to determine the severity of the brain affected. Grade 1 is where the entire brain is smooth and grade 6 is the most mild form of ILS. Having met with some leading experts at a conference for lissencephaly, they told mom that I was a very mild grade 4.
Below I have listed some links about lissencephaly that mom has found useful. Please visit them if you would like to learn more about lissencephaly.

One of the most common characteristics of lissencephaly is the appearance of seizures at an early age. My first detectable seizures occured on February 4, 2005. I was three and a half years old. Since then, seizures have been a day-by-day discussion. Mom thinks that I am having complex partial seizures. I lose awareness and typically look up and to one side. My breathing is irregular during the seizure, but luckily, they don't last very long. Unfortunately, after the seizure is over, I sleep anywhere from 1/2 hour to 3 hours. On days that I have seizures, I often have more than one. Typically, I will have seizures about every two weeks. My seizures are most definitely related to the weather as well. Almost without fail, I will have seizure activity about 12-24 hours prior to thunderstorm weather. March and April in Indiana are difficult months for me in regards to seizures. At the current time, I am taking Topamax, Keppra, and Tegretal.

In July of 2007, I had surgery to implant a vagus nerve stimulator (VNS). Mom and dad are very happy that I had it implanted. The device goes off in regular intervals and sends an impulse to the brain. I also carry a magnet with me so that if I go into a seizure, the device can be "swiped" for an immediate impulse, which will be sent with a higher magnitude. I have had the device adjusted (magnitude and frequency) several times with very postive benefits. My seizures are very infrequent (but still tend to correspond with the weather) and I have been able to reduce some of the medicine that I am on. The hope is that I can eventually wean off at least one of my medications, but I will always be on anti-epileptic medications. I can go several weeks without any seizure activity and will usually only have one seizure when I do have them. My verbal output increased most dramatically by the combination of the VNS and the reduction in the medicine. Sometimes my voice vibrates a little when I am talking but mom just calls it my robot voice.