Wow. I'm not even sure where to begin. We had our appointment yesterday with the neurodevelopmental clinic. The doctor was very prepared and had read through all the other doctors' notes that had ever seen Aimee, looked at all the test results that were ever done, talked to the genetics dept and researched any link between her different symptoms. He really took ownership of the situation. We were in his office for about 2 hours looking at the MRI, discussing what is known and what we will be doing from here.
We did find out what is happening in her brain that is causing her delayed development. Her brain is a normal shape and stage for a 3 month old baby (she will be 8 months on Monday). All the right components are there. The main issue is that the myelination is underdeveloped. The myelin, as I understand it, is the 'white' matter when you look at a brain. So in her brain, the distinction between the white and grey matter isn't as great as it would normally be at this age, because the myelin is thinner than it should be. The white matter or myelin is actually like a fatty insulation that surrounds the wiring connecting the different parts of the brain. It is essential for the nervous system to function. There are thousands of different potential causes for this lack of development and without knowing the 'why', we can't really answer the 'what to do' or 'what will happen' questions.
From this point, we will have several tests done. The biggest one will be looking really closely at about 1600 different segments of her chromosomes. This one will take about 8 weeks to get results. Because it is a new test, it may not be covered by the insurance company. We will also have her cholesteral levels tested (could be too low and myelin is primarily made of it), her carb levels (don't really know why) and for a few specific metabolic disorders that show similar symptoms. Also, we will be meeting with the Opthamalogist to look at her eyes. We are concerned about her eyesight, but also the eyes are a big indicator of the rest of how the rest of the nervous system is functioning. These tests are just a few to begin with. There are so many possible ones, we just don't want to overwhelm her little body (or our little heads).
I know that this is a lot of info...and it is only what I can remember from our appointment. We really talked about so much more. There was a lot of good news, a lot of possibilities that we can rule out. At least we now have something more specific to pray about. Please do pray for Aimee. God knows the whys of what is and is not happening. Pray for an increase in myelin and an increase of response from her nervous system. Also, please pray for God's provision for us.
If you have any questions about the above, please comment. I'm not sure how clearly I am explaining this right now. Things feel a bit fuzzy, evidenced by me locking the keys in my car this morning =).
