I have so much I am eager to share with you about Matthew's Tuberous Sclerosis. This is a summary of how TSC manifests itself in Matthew. I have added a link to a journal I have been keeping online for Matthew. I have had to post the journal as two separate pages Journal 1 has the most recent entries including the most recent episodes of seizures. Journal 2 is when the seizures began. I have also included a detailed history on Matthew's diagnosis. It explains the procedures and diagnostics we had to undergo to get our final diagnosis.
You certainly could not tell looking at Matthew that he had a rare genetic disorder, but Matthew seemed to be experiencing motor delays throughout his development. It was not until his one-year evaluation that the pediatrician offered the option to perform scans and diagnostics to determine the cause. No one expected we would find anything.
When calcium deposits located in the brain were discovered on a brain CAT scan and confirmed with the MRI, Matthew and I went through testing for Toxoplasmosis. For the "fun" details on that adventure check out the history on Matthew's Diagnosis page. After Matthew's second test came back negative, it was time to follow another path.
Those calcium deposits combined with the "white spots" on his skin are what prompted the neurologist to suggest Tuberous Sclerosis. Matthew underwent a lot of diagnostics after that first visit to her office. We started with the ultrasound of the kidneys, which was clear at that time (April 2001). It was just a couple of weeks after Tuberous Sclerosis was suggested that Matthew started having seizrues. I had suspected at least two seizures prior to this but the fear that they were seizures was dismissed as "normal baby twitches." (For details on his seizures read those Journal entries dated April 16, 20, 25 and 29th in Matthew's Journal.)
In the weeks to follow, Matthew had been sedated for the EEG, the MRI of the heart, and an echocardiogram (of the heart). I was beginning to wonder whether I should be putting him through all this, only to realize the more answers we had, the more prepared I could be for anything that could go wrong. We found out that he had these tumors in his brain, two in his heart and one on each retina. He was put on phenobarbital to control his seizures, even though he still has those partial (or focal) seizures every once in awhile.
He has been in physical therapy for the last ten months. He started long before we knew there was a real underlying problem. Those visits were just reduced from once a week to once a month. The early intervention program through the school board initiated his physical therapy when developmental delays were discovered a year ago. He is catching up to his peer group in development now. He started taking his first steps at 18 months and takes them like a pro now. He is attempting the shape sorter with my help, but it is tough to keep his attention on one thing at a time. He is happiest playing off by himself pushing cars along the couch or floor. He recently had to get glasses for farsightedness and astigmatism. It has been a real challenge to get him to wear those glasses.
This story was written, September 17, 2001. For current events on Matthew, please feel free to visit his Journal Pages any time!
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