The good news is that Josephine has not had any seizures during our visit. However, Dr. Bojko said she is having significant spiking in her brain activity, particularly while sleeping. The average brain should have no spike in brain activity. This means Josephine is prone to seizures and is something we need to monitor on a regular basis. No medication is needed at this time, which is great because she is continuing to make progress in therapy and the meds could slow her down again.
We will have to do an ambulatory EEG again in 3 months, just to make sure the spiking hasn’t gotten any worse.
After a great amount of waiting patiently and many phone calls to the neurologist, we have some new information regarding Josephine’s brain.
MRI RESULTS: As we suspected, Josephine has complete agenesis of the corpus callosum. What does this mean? No idea. It depends who you ask and what research you do on what site. What we do know is the connective tissue/fibers between the left and right brain is nonexistent. Normally developed within the first 6-12 weeks of conception, the corpus callosum allows the right and left brain to communicate through as many as 200 million fibers. There is another pathway this communication can occur, but there are only 50,000 fibers available in that connection. Check out www.nodcc.org for more detailed information on disorders of the corpus callosum. Again, what does this mean for Josephine? She may need more therapy to help build new ways for the left and right brain to communicate. The good news is that we have started Early Intervention already, so only improvements can be made.
AMBULATORY EEG RESULTS: These results are less severe than the MRI, but still concerning. Josephine has a tendency toward seizures, but did not experience a full blown seizure while hooked up to the EEG. The neurologist, Dr. Aviva Bojko, is not prescribing any medication at this time because the EEG just showed spikes in the activity in the right and left frontal portions of the brain. If we see any signs of seizures such as blank staring and twitching of any kind, we are asked to call the Dr. Bojko immediately. Are these seizures connected to the agenesis? Your answers are as good as ours. I read that seizures are increased with complete agenesis and when having conversations with other medical professionals (a P.A. and a nutritionist), if there is no corpus callosum, seizure activity should cease. More conflicting information…no surprise here.
On the medical side of Tetrasomy 8p (Genetic Disorder)
Josephine took a trip to the neurologist on July 26. The neurologist wanted to monitor her brain activity for a 48 hour period. The process of attaching the 26 electrodes was less than wonderful, both for Josephine and Mom and Dad.
But after the procedure, Josephine became our little cosmonaut (see pictures above)!
No results yet from that test. Next up is the brain MRI, which is scheduled for August 6. This is another big test to give us some big answers – does Josephine have a corpus callosum (arched bridge of nervous tissue that connects the two cerebral hemispheres, allowing communication between the right and left sides of the brain) and does she have hydrocephalus (water on the brain)?
Josephine has been experiencing, what I think to be petit mal seizures – vacant stares for a few seconds and head twitching in repetition of 2-4 movements.
This MRI will give us a better idea of her prognosis. Every test leads to a new piece of the puzzle. We may not always get the answers we want to hear, but it’s better to deal with what’s coming head on. Denial is not our friend at this point.