So I got some new information from one of my metabolic doctors (there are 7 in total, I have met 5). Here's the deal, some doctors don't really like to tell you anything until they can prove it beyond a shadow of a doubt. Other doc's will tell you things that "may" be a problem and try to prepare you for things ahead of time "just in case". I'm an "expect the worst, hope for the best" kinda gal so I cornered one of the "what if" doc's and asked some questions about things I still wasn't very clear on. There have been a few issues regarding communication and there are a couple of things that I felt the doctors weren't taking as seriously as I was.
First on my hit list were questions concerning the "episodes" Ayzac has been having since this whole thing started. If not for these episodes we would not have taken him to the hospital. Also, one of these episodes was so severe it almost killed him and landed Ayzac in the ICU on life support. For those of you who don't know what I'm talking about I'll explain.
In a matter of minutes Ayzac goes from seemingly fine to screaming in pain inconsolably. During this screaming fit (of which we never know the cause) he starts to sweat profusely, turn a lovely shade of red and get a mottled appearance on his skin from head to toe. Like a leopard. Suddenly his screaming will turn into a sort of panting, moaning sound. It's as if he is too tired to cry and all of the energy is sucked out of his body. He goes cold and clammy, his skin goes pale-gray and his eyes lose all of the life in them. He gets a vacant glazed stare. His body goes limp, his tongue curls up and pulls back a bit and his breathing becomes slower and slower until you can tell his little body is fighting to breathe. When we were in ICU the doctors had no idea of what was going on. All they knew for certain was that whatever was happening, his body was giving up the fight. They suggested life support as a last ditch effort to save him. We were told he would probably not survive the procedure and that we might have 5 or 10 minutes left with him alive. Miracles happen...and we had one that night.
Ayzac since has had four similar episodes, the only difference being that he seems to snap out of it and recover quickly. You would have to be crazy not to think this is serious each time it happens! The doctors have continued to suggest that it is a type of seizure and that they are not concerned at this time. I finally got fed up and demanded this issue get some attention. The doctor has a theory, but it has not been looked into or confirmed. She thinks possibly he has a defect of some kind with his Autonomic Response System (ARS). The ARS is the system in our body that controls all of our unconscious actions. Things we have no control over like our heart beating, breathing, and sweating for example. It is also what triggers our "flight or fight" response and manipulates the body to adapt appropriately to stress. She thinks maybe his ARS doesn't respond properly to stress in his body. So instead of encouraging his body to fight by increasing his heart rate and his breathing etc...it instead just shuts down and doesn't respond at all.
I think this is a far more likely possibility than just seizures. It definitely seems to me like whenever his lactate gets higher, or other problems arise in his body, he has one of these episodes. She said she was going to press the issue further with the metabolics team and see if they can come up with a plan to figure it all out. Again, these things take time and money and we will just have to wait and see. In the meantime, if it is a dysfunction of the ARS and it goes untreated, he could potentially have an episode that could be fatal.
The other thing I have become increasingly concerned with is his eyes. Ayzac has always gone cross eyed quite a bit. This is usually a normal baby behavior that they grow out of. At first I thought "no big deal". He is a little behind in other aspects as well. He cannot hold his head up yet, he makes no attempt to roll over, he is very small for his age (even smaller than Kazzdon was) and he sleeps about 80% of the time like a newborn. I just thought it might be because he was born a little early and needed time to catch up. All of the doctors I mentioned these things to didn't seem to think it was a big deal and didn't tell me there was any reason to be concerned. In the last week or so I have begun to notice he is going cross eyed most of the time and having some difficulty focusing on objects. Also, at times he will be looking at you then only one eye will look either in or out the other way! So I'm thinking "okay this isn't normal, now my kids got crazy eyes, something is messed up here". Again I pressed the issue and asked the doc if there was anything going on that could be causing this. Sure enough, I hear for the first time ever that Ayzac has got some brain abnormalities. Apparently he has got some damage to the white brain matter. White matter controls electrical impulses and these impulses carry messages to and from the brain. Thus affecting things like eye movement, muscle control, and hearing. Voila! Explains a lot...thanks a bunch people.
I also heard for the first time that Ayzac has definitely got Kidney problems. Nephrology (the kidney guys) are in the process of figuring it out exactly. He also has hormone deficiencies of some sort. Endocrinology (the hormone gland guys) are trying to figure that out.
So that's about it. They have ruled everything else out now (as far as any other possible causes for Ayzac's symptoms) and can apply for the funding to pursue the testing required to diagnose his Mitochondrial disease. This begins tomorrow and we aren't getting out of here until he is fully diagnosed. I have been warned that this testing can take months but sometimes things pop up on tests right away. Another wait and see scenario to add to my ever growing list of "we don't knows". I will keep you posted!