I've realized lately that most people I talk to don't understand at all what all of these diagnoses are and I thought maybe I could compile some information that I've found helpful and put it all here and that way I can just link it to everyone instead of repeating myself over and over again! LOL
I think what is really hard for most people in terms of Emeric is that he looks really good and they can't fathom that he really has these diseases because if you read up on mitochondrial disease you see lots of different symptoms that Emeric doesn't have. Or you find something in regards to the Creatine defect that says these kids are mentally retarded and Emeric isn't so it's hard to believe that's really what he has. The thing with these diseases are that they are progressive so while Emeric doesn't have all of those symptoms now, one day he could, or will. Since he's not even quite a year and a half old his body he's still young and things haven't had a chance to progress. We don't know how, or if, these things will progress although our neurologist has told us that when a child presents with symptoms from birth like Emeric has they are usually more severely affected. Both mitochondrial disease and Creatine deficiencies are disorders of energy metabolism. I read a blog by a woman named Kate whose son Noah has Mitochondrial Disease and she explained the energy part so well that I will just summarize what she said. She talks about "Balancing the Energy Budget". Most of us when we think of energy think of something like, "I have no energy, I spend the whole day cleaning house!" but for someone with far less cellular energy they "spend" that energy on breathing, keeping our heart beating, digesting food, filtering waste, maintaining our temperature, fighting infection, moving, learning, growing, keeping our cells alive - absolutely everything our body does.
Most of us have a big enough budget that we can spend what we need in every category. You have probably noticed times in your life when your budget wasn't balanced - when too much energy was allocated to dealing with the physical effects of stress or illness and you were left exhausted, or when you expended so much energy working yourself into the ground that you shortchanged the immune system category of your budget and got sick.
For kids with Mitochondrial Disease this is everyday life. In terms of their energy budget they will always come up short. If you spend in one category, say not getting enough sleep, than you come up short for things like getting sick, or even playing too much. The way to try to balance that is by trying to keep him from spending energy by getting stressed in anyway. That means making sure he gets enough sleep, keeping him from getting sick, etc. Right now he isn't walking so it's easier to keep him from getting worn out by physical activity although I can imagine when he's walking and running he'll have far less energy.
Some of these things, well most actually, are the things people don't see. If you're around him for a short time you don't really see him as any different than any other kid, and in a lot of ways he isn't. He plays, laughs, acts pretty much like any other kid his age. Right now he is healthy, at least outwardly. We have no idea what or how anything is being affected internally. We see the effects on his brain through seizures, headaches, and just having periods of time where he seems out of it. We're told this is a type of neurological stress. Most of the time people don't notice these things because typically they're pretty subtle and only someone that knows him well notice it. Our physical therapist is getting to know him well enough that she can tell when he's running out of energy or shutting down.
Right now Emeric is much more healthy than a lot of kids with Mitochondrial Disease. I don't know anyone with a Creatine Deficiency so I can't compare. Our hope is that since the Mitochondrial Disease is secondary to something, probably the Creatine deficiency, that the symptoms of mitochondrial disease will be less severe. The problem with energy however, I assume will be worse, since he not only has the mitochondria that aren't functioning properly but he likely has no Creatine in his brain or muscles and if you know the kind of people that take Creatine(body builders, athletes, guys that want to impress girls with their big muscles) than you can guess what Creatine does, it gives you energy.
I've met so many people in this past year who's kids have Mitochondrial Disease, or other metabolic disorders, and feeding tubes and oxygen and wheelchairs and it reminds me to be thankful. There's always someone that "has it worse" than we do and I know that, and I'm thankful. Not that they have it worse but because it puts things into perspective. At the same time it's hard sometimes to feel thankful and I wonder daily what his life holds for him. People tell me to stop worrying and or "at least he's alive" but I have to be honest, those things don't help. They make me feel like my feelings aren't ok and like a friend of mine said, "This is a crappy diagnosis no matter how you put it."
I guess I feel like this is all part of the process to coming to acceptance. I know nobody wants to hear all the ins and outs of what all these diseases mean and everyone wants to think it isn't real. I want to think that too but it is real and it's hard when people don't seem to understand that. I'm thankful for each day and I can see how much God has blessed us through all of this so I don't mean to sound so negative. The part I can't say is that I've accepted this and it will all be ok because I just don't believe that yet. I'm sure everyone is tired of me talking about it all the time and wishes they could tell me "It's not that bad!!" but to me, it is. Knowing my son has a brain disease IS that bad.
Plus, this is my blog, which really means and online journal, so I guess these are my deep, dark thoughts and no one really has to read them. LOL :)
