When it was time for Elias' 4 month well check up and 4 month vaccinations in September, we thought we would try giving all to him in one visit this time around. At his 2 month vaccine appointment, we split up a few of them between a couple of visits because we just weren't comfortable, and he tolerated that pretty well. Looking back, I wonder if we should have done the same at 4 months, or if it would have just prolonged the inevitable...
As most baby's, Elias became fussy and agitated after his 4 month shots, just as he did after his first batch, but this time some other subtle changes began to emerge. His dad noticed after a couple of hours from having the shots, Elias "got the stares" so to speak, where he wouldn't really focus on things very much, but we just thought that might be a little bit of shock from such a traumatic event that day.
However, those staring episodes continued and a couple of days later, when rocking him to sleep one night, I noticed what I would describe as a seizure. His eyes would avert upward and his shoulders and hands would draw up into a shrug. He would seem to lose control of his muscle tone for a brief moment. These seizures would come in clusters from 10-20 at times lasting up to 8 minutes at their worst. One of the other things I noticed, that was strange, was he would tear up... this was strange to me because he almost never had tears when he would be crying, so why would he have tears now.
We immediately called our primary care pediatrician and the fit us in to an evening appointment that day. They weren't completely convinced that he was having seizures, but hesitantly referred us to a pediatric neurologist due to the family history.
I had seizures when I was around elementary school aged, about kindergarten through, I would say, third grade. There are a lot of things different about the type of seizures that I had, and those that Elias was now exhibiting.
Anyway, we went to the pediatric neurologist the next week and were admitted to the hospital for multiple tests including: blood work, tests of his spinal fluid, EEG, MRI, urine analysis, etc. You name it, I think they tested him for it... with no definitive answers after a 4 day hospitalization. The only thing we knew for certain was that he was, in fact, having seizures and his EEG scans were not normal. At the time we were told that his MRI was "normal" and that all the other tests were also within functional limits.
After multiple visits to the pediatric neurologist and a few trials of different medication regiments, Elias was still having seizures. After a round of steroid treatment, we were feeling somewhat more hopeful, as the seizures were minimally invasive and very subtle compared to when he first began having them. However, once he was weened off the steroid treatment, they came back.
On one of our last visits with the pediatric neurologist, who also happened to by my doctor when I was having seizures as a child, the light bulb turned on... back when I was a child, having these episodes, the doctors had mentioned a term "tuberous sclerosis." I never fully fit all of the patterns or criteria that most individuals with TS exhibit, therefore, was never formally diagnosed with this genetic disease. But now, that my child was having similar issues, it seemed to prompt our doctor to refer us to a geneticist.
That's where we headed next. Luckily, the geneticist is in the same practice and office with the pediatric neurologist. So myself, my father, and my son all go to this appointment. We are looked up and down (there are specific dermatological markers of TS) and given a preliminary diagnosis of TS. Elias went to have blood work drawn to be sent off to a lab for a genetic test to be taken to either confirm or deny the presence of a mutated gene that would in fact indicate TS.
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