Alex Update

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I decided it might help to post stories of other children being diagnosed with Tuberous Sclerosis. It can only help those diagnosed if people are aware of their disorder. It can only help parents in the future to know that they are not alone in this world of unknown. This is my interpretation of Alex's story. His mother, Karen, eagerly told me their story as soon as she found our site on Yahoo. We have kept in touch for the past month through email. Wow! It already seems as if it has been much longer than a month. I can only imagine what kind of month it has been for their family.

As they grow closer and closer to their due dates, the anxious fathers, and I think most "mothers-to-be" will try to plan out in their minds, what will happen in the delivery room. There is hope that everything will be just perfect, but you try to not imagine it picture perfect. Finally, you convince yourself that it doesn't matter what happens in the process. You just want that perfect little baby in your arms safe and healthy.

I can only imagine the stress Karen must have put herself through when she was sent right over to labor and delivery during what was supposed to be a routine bi-weekly doctor's visit. Her high blood pressure (162/100) triggered some reactions she could not have prepared herself for on this day. The AFI ultrasound, which was also done at this visit, indicated that her fluid levels were low. She would have to be induced right away.

Arriving at labor and delivery by 12:45 P.M., and having the pitocin IV drip started by 1:30 P.M. On May 24, 2001 at 9:34 P.M., she finally had that wet and wiggly baby boy. He was screaming and kicking, and all she wanted to do was hold him. She could not have expected anything to prevent that from happening, but Alex was not regulating his body temperature and he had to be away from his Mother's arms under the heater. She just couldn't wait to hold all 7 pounds and 10 ounces...all 21 inches of him. He did fine though and got to go home with Mom.

Alex's seizures were first noticed when he was just a little over 2 months old. Imagine the shock you go through when you see your baby having a seizure, only to sense a little relief when someone tells you it was just a normal baby twitch. You always hold that sense of fear in you though. You know what you saw and you refuse to doubt your instincts. You forever have that image imprinted in your mind and know that if you ever see again...you are not driving yourself crazy after all. For Alex and Karen it happened again the next day. The second time you are more prepared for what is going to happen. Your response is much faster. Alex's Mom remembers what she saw.

"I was at a store and went to put him in the car and noticed his eye, cheek, mouth, hand and leg were twitching (all on the right side). I held his hand and it still was twitching. So I went straight home and called the pediatrician. The nurse said that since it was on one side hat we should come in for an appt, but it wasn't an emergency or anything so we scheduled it for the very next day. An hour later, I was burping him after a feeding and my mom noticed his cheek was twitching. All these episodes lasted 10 seconds or less. So I called the pediatrician AGAIN and told them he did it again and I was getting concerned thinking they may be seizures. But I still wasn't very scared. So they had me come in (and the receptionist was damn rude about it because it was close to closing time). He ended up doing it twice at the doctor's office and the pediatrician got to observe for herself. She confirmed it was a seizure and sent us straight to the hospital."

At this time, the pediatrician expressed some concern over Alex's developmental delays. He was not quite holding his head up as well as he should have. She also thought he was favoring his left side over his right. As soon as they arrived at the hospital, they hooked him up to a monitor to check his heart rate and his respiratory function. They also placed an IV catheter. The pediatrician had ordered some blood work, which would rule out meningitis and metabolic disorders. In the morning there would be the EEG and the MRI of the brain.

You try so hard to grasp every word the doctor is saying. You can't help but be enveloped by your fears though. You prepare yourself for what you think could be the toughest thing to handle. As results start coming back normal, you gain a little hope and confidence. The thought creeps up on you that everything is going to be all right. It was just a fluke thing and maybe it won't happen again. Meanwhile, you have to fight the urge to feed your hungry infant because he is about to be sedated for that MRI. You can only allow the keen interest to take over when you are fascinated by seeing your child's brains on film! Then a little reality settles in when you get those results. You are handed a diagnosis you could not have prepared yourself for, because you have never heard of this disorder. This is how Karen recalls that moment.

"The pediatrician came in and told us they found multiple tumors on his brain. They are on the left side, which is why he was only having seizures on his right side. She said he has a rare genetic disease called Tuberous Sclerosis. She said Jeremy or I might be carriers and that it only took one of us because it was a dominant gene, or it could be a spontaneous mutation. This disease is awful. He can range anywhere from not being affected by it (other than his seizures) all the way to being severely retarded. The little tumors (which are benign but could possibly become cancerous) can form on any organ, most commonly the brain, eyes, heart and kidneys. He could get more on his brain that will affect other things like learning or whatever, or he could never develop any more ever. He could live to be 100 or only live to be 2. It's the most awful thing I've ever gone through in my life. Sitting there hearing that my perfect beautiful sweet little boy may be severely retarded or even die, I can't begin to explain how I felt (feel)."

Alex's echocardiogram and ultrasounds have all come back showing no tumors. The exam by the Opthalmologist revealed no tumors. He has been accepted into the early intervention program. At this time Karen could report they found him to have delays in gross motor skills and another area of evaluation. So far, he seems to be at the normal levels of social and verbal skills. Alex will have to follow up with the Opthamologist to be sure he doesn't develop any growths on his eyes. A physical therapist will evaluate him to determine if he will need physical therapy for gross motor delays. Eventually he might need a speech therapist. Nothing seems to be certain with this disorder, and that is probably the hardest things parents face. We have no idea what the future holds for our children. Karen seems to sum it up best. "You never know how bad it is going to be. You just have to take it one day at a time."