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Daughter  Story


 March 15, 1997 started out like any other day. We got up and began to get everyone ready for school and work. Emily and I were walking down the stairs to finish getting her things together for school when she suddenly just stopped and dropped to the ground; I remember turning around to see where Emily had gone. Being two and a half years old, at first I just thought she did not want to go to school and this was some sort of ploy. But the next thing I saw was a sight I will never forget. Emily was lying on the floor, her arms and legs out to her sides and she was stiff, her eyes rolled back in her head. I thought I had just seen death. My wife Called 911 by the time 911 answered the phone Emily was "back alive". We immediately left for Children's Hospital Emergency Room to find out why Emily had passed out.

In the ER, they started with blood tests - four blood tests and a spinal tap were done that morning. After all this they still had no idea what was wrong with Emily. We started the follow-up tests to find out what had caused this. The first test was an EEG and this is where we found that Emily was having 30 to 40 electrical seizures a second. The next test was an echocardiogram, which found a small growth in her heart. This growth, however, did not interfere the normal functioning of the heart, something good!! Then came the renal ultrasound and once again good news, nothing there. YEA!! Then came the MRI and this was very scary as we were going to find out and how bad the growths were on Emily's brain. At this point Emily started taking Depakote sprinkles, one caplet three times a day to help "burn out" the seizures she was having. "Burn out" the seizures was a very weird term for us to understand. The blood tests at this point were fun (NOT!), every week for a while to get the level of Depakote in Emily's system balanced, increasing her medicine weekly and wondering if we ever figure out the proper dosage. The MRI was fun too (!). Emily has been a fighter when it comes to being sedated and she fights to the end before giving up. They finally had to give her twice the amount of medication to put her out as given to other children her age and weight. The MRI was actually not that bad after the medicine finally took affect and put her out.

The results showed that Emily has 5 growths on her brain. The biggest of the five is located in the left temporal lobe where all the seizures are located. The others are small dots of calcium build up that are not causing any real problem at this time. The EEG was the hardest for Emily. It's not a painful procedure, but Emily does not like anything touching her hair at all. The EEG showed that some of the seizure activity was decreasing, more good news for Emily. In the midst of all this we were learning what seizures were and how to know when Emily was having one. Emily has internal seizures that have rare external signs. The neurologist calls these electrical seizures as they have no "real" physical form and are random discharges in the brain. When the brain cannot handle the random discharges or the intensity of the electrical activity, a breakout seizure occurs (staring, drop down or wringing of hands). Most of Emily's seizures are electrical seizures (Complex Partial Seizures), however some are drop seizures and a few are staring seizures. Staring seizures are hard to identify with a 3 year old (is it a staring seizure or is she not paying attention to what is going on?). The breakout seizures were rare for Emily, but when she did have one it was another trip to Children's Hospital for a blood test to check the level of Depakote in her blood. After about the second time going for blood tests, Emily could lead the way. She is very strong-willed and such a big girl about getting to the lab and waiting, but as soon as her name is called, Emily becomes nervous and doesn't want to go through with the blood test.

With all the tests that Emily went through, her pediatrician wanted still more tests to be 100% sure she actually had TS. They didn't feel the evidence was conclusive since Emily did not show all the "usual" signs of TS: no skin lesions and no mental setbacks(at the time). Her only symptoms were seizures, growths in her heart, and the calcified areas of the brain. The next step was to see the geneticist, which did not go well. We did not learn anything new about TS or anything for that matter, and the trip was a waste. Where I thought we would learn more about TS and how to identify other signs of TS, we came away empty-handed. In fact, I told the geneticist more about TS then he knew (like the new findings of the TSC1 gene). My thoughts were hmmmmm I am telling him about TSC1 and he is going to be giving me the yea or nay on if Emily has TS or not, what's wrong with this picture?" Needless to say, we did not get any more information from him then we already had. The next and final diagnostic test was to have Emily's eyes tested. This test came back clear; no growths in her eyes either. So did Emily have TS or did she not? Where did we go from there? Questions, questions, hundreds of questions. The pediatrician finally determined that yes Emily has TS and her neurologist agreed. At last, the question of whether Emily has TS was answered. This may sound funny but it was a bit of a relief; while we certainly weren't happy about her TS, at least we knew what we were facing. To us, that was better than not knowing what to do next or what new disease might enter the picture. That first year we kept busy with trips to the hospital to check Depakote levels, finding out which medicines would react with Depakote and which ones did not, discovering what we could give Emily for a cold or a cough.... From time to time there were seizures, and we learned things that seemed to trigger Emily to have staring seizures: stop lights, ceiling fans, the sound of jets flying over head, rhythmic bumps in the road. Year two did not start off well. One year to the day from her first drop seizure, Emily started not wanting to get up in the morning and being tired all the time; she was not herself; we now know this is a sign of her Depakote level not being right. Days before her yearly check-up with the neurologist Emily had a weekend of seizures, staring spells where she would tell us that her head hurt. Could she feel her seizures? What did they feel like? We reasoned that if she can tell when she was about to have a seizure, that might make them easier on her. When we went to the neurologist, they increased her medication to six caplets a day from five, which required more blood tests to determine Depakote levels in her system. A week after her medication was increased, she again started having seizures, but not the same as before. She would wake up from a nap and not know who she was or where she was. We talked to the neurologist and found out this is "normal", that her body was just adjusting to the new level of medication in her system. This, of course, required more blood tests.

This year's tests (the echocardiogram, renal ultrasound and EEC) were all done in one day; this was another fun day for all(!). The EEG showed less activity in the left temporal lobe, the echo showed that the growth in her heart disappeared, and nothing showed up on her renal ultrasound. We were encouraged. Her follow-up MRI will not be for another few months. At this writing, Emily is starting to have more seizures and seems to be scared of weird things (like peanut butter sandwiches or her Pooh bear). We believe these fears are seizure related, since they seem to manifest themselves when she is coming out of a seizure. Emily is also starting to talk about things that are not actually taking place (i.e., "get the cat off me daddy" when the cat nowhere in sight). We called the neurologist, who set up more blood tests and started Emily on Tegretol and Depakote. The mixture of the two drugs makes us very uneasy. How will Emily react to the combination of these two medicines? Where will this lead us? More and more questions... and the answers sometimes seem to be getting harder to find. We believe that Emily has a "mild" case of TS, yet every day with this disorder is a new challenge for us it seems there is always something new to learn, but the new proliferation of research into TSC brings us new hope and new understanding.

(Update) The more and more we read and understand about TSC at times the more we feel we do not understand. Emily at this point also has a laundry list of problems that are both caused by or because of the TSC. PDD, which is a form of autism, fears that come out of nowhere and behaviors that when other look on think that Emily is spoiled or out of control. We have found support groups in the area to help with questions and idea on what to do next with TSC. One support group is "Just For Kids". This group has a lot of fun and gives the parents time to have fun too. My wife found AIM for the handicapped which is a program that help children with handicap. The program  help children with fine motor and gross motor skills. Being involved with AIM as open doors to other support  groups and families with children with problem like Emily's; this has been a great help for my wife and I. We are now starting to help with a TSC Alliance support network and support group in the Ohio area. Emily likes to go horseback riding, camping, and fishing. 

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