Saturday, October 23, 2010

Neurology 101 (and 102) and an update

Thursday Gabe and I made the 40 minute drive downtown to the Cleveland Clinic to their pediatric neurology department. Let me first say that the new little table and chairs and the new HUGE flat screen tv (courtesy of Sony the plaque read) kept Gabe mesmorized as we waited.

Secondly, I'd like to note, that walking around the clinic with Gabe in my arms and not in his stroller was a very bad decision. The elevator stopped at every floor on the way up and by then I was sure my arms were either going to 1.) fall off or 2.) never let go of Gabe!

Now before we get to the actual neurology appointment update I figured we'd have a little neurology lesson. I've learned that when I talk about Gabriel and his schizencephaly, I just assume everyone knows what I'm talking about. And you know what they say about when you assume [SMILE]. Nevertheless I figured a little time spent defining the medical terms we use all the time may alleviate some of the questions, quizzical looks and google searches. A word to the wise though, googling Gabe's condition(s) gives way too much information and not an accurate description of our little guy.
  • schizencephaly - rare brain abnormality where some of the grey matter of the brain is missing. Gabe's missing part (called a cleft) is on the ride side of his brain, thus effecting his left side of his body.
  • Corpus callosum - tissue that divides the right and left side of the brain
  • agenesis of the corpus callosum- corpus callosum is missing. Gabriel's agensis of the corpus callosum is minimal and the cause the cause (the doctor believes) of his torticollis
  • torticollis - stiffening of muscles, having too much tone. Gabe has torticollis on the whole left side of his body and a tiny bit in his right leg.
  • dysplasia of the septum pellucidum - the septum pellucidum seperates the left and right ventricles of the brain and dysplaisa simply means malformation. Gabriel's septum pellucidum consists of immature cells and looks abnormal on a scan. Dysplasia of the septum pellucidum has one great risk; septo-optic dysplasia
  • septo-optic dysplasia - underdevelopment of the optic nerve and/or absence of the septum pellucidum. Gabe's opthamologist checks his optic nerve regularly and right now Gabe is showing no signs of septo-optic dysplasia

Along with the above 'problems,' Gabriel also has a small area of dysplasia (malformation) on the left side of his brain as well.

So, Thursday we went to see Dr. F and after a seemingly exhaustive exam Dr. F once again discussed his findings with me. He is 'very pleased' with Gabriel's verbal and cognitive skills and is overall happy with his development. Dr. F is still concerned with Gabe's lack of using his left hand but feels the continued occupational therapy along with getting bigger and exploring things that will require the use of two hands will continue to alleviate the problem.

Dr. F also noted some increased tone in Gabe's right leg that we hadn't noticed before. He's attributing it to the minor dysplasia of his cortex on the left side of Gabe's brain and just mentioned the importance of working with all of Gabriel's extremities and not just the left ones (which we knew and had just talked about with his occupational therapist that morning).

The last thing Dr. F talked about with me was referring Gabe to a medical geneticist. Besides all of Gabriel's problems listed above he is missing his 3rd cranial nerve. And while this diagnosis puts us in the wait-and-see catagory with his other diagnosises, Dr. F is concerned that a missing 3rd cranial nerve is not usually found with a patient that has schizencephaly or dysplasia of the septum pellucidum. So, we scheduled an appointment with a geneticist to make sure we're not missing anything else that could be going on with Gabe.

Overall though, Gabriel is doing great! And we couldn't be more pleased with how well he is doing. Now if he'd just start sleeping better... but that's a story for a whole different post!

2 comments:

Dardi said...

He is one busy boy! And still as cute as ever!!!

Anonymous said...

What a little sweetie!!!!!

And how exciting you are adopting!