Asking for your prayers...

Throughout the last year we've gotten to know many families and their children who all have differing special needs. One of those children is a little girl named Caroline. She lives in Fargo and she has the same neurologist as Emeric. I haven't had the privilege of meeting her, although I'd planned on it when I walk in the Make a Wish Foundation's fundraiser in Fargo in a few months.

Please keep her family in your prayers. She is not expected to live more than a few weeks. I cannot fathom their pain. I'm so sad for their family and I have not even met her so I can't begin to imagine their pain.

http://www.caringbridge.org/visit/carolineruby

Emeric's new trick(don't mind the diaper falling off!)

He thinks he's hilarious doing this. The girls laugh and laugh so he does it over and over!

Kaydence decided to be my little model for the day...

The girls had fun baking some sugar cookies the other day. Most of the decorating sprinkles ended up on the floor but some ended up on the cookies! :) They actually taste pretty good!

Update from Cleveland

Since I wrote a long update on the caringbridge site I figured I'd just link you over to there. :)

http://www.caringbridge.org/visit/emericswiers

We're just about to head over to the hospital for Emeric's MRI but I thought I should update since my last depressing post. Thankfully I got over that day and with having Jake gone for the entire week working I think that was partially my problem. :) So... I am doing better. Being here at the RMH and seeing all of these sick kids makes me realize our lives are good. And seeing this little boy who is Emeric's age and so sick from Mitochondrial Disease makes me realize how much we have to be thankful for. Emeric is doing well and that's a blessing! So, I apologize for the negativity! I'll update when we get back from seeing the neurologist.

Please continue to pray for Noah(you can read their blog under "my quiverfull" in my favorite links. His mother Kate is scheduled to be induced next week so also keep her in your prayers.

Please take a look under my favorite links to the "Our Quiverfull" blog and say a prayer for their baby, Noah. Noah has mitochondrial disease and he is doing very poorly right now and needs a lot of prayer.

Quick update

We arrived safely in Cleveland and we were lucky enough to get into the Ronald McDonald house again. Emeric has a pre op tomorrow morning and I'll update after then.

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 :)

Well, Emeric still has an ear infection in both ears. In fact, one was so full of fluid she couldn't see in it and now today he woke up and the other one is full of blood! But, she's not cancelling his surgery. We put him on antibiotics and hopefully that will clear it up before then. Of course the antibiotics are making his C-difficile infection flare up again. It's a no win situation really. He was also up last night coughing quite a bit. Please pray he doesn't get sick before we go to Cleveland because it'd be terrible to get there and no be able to do the procedure because he's sick!!

He's had a strange day again today. I don't know if he's just having seizures, or maybe he has a headache, I'm not sure. He keeps blinking his eyes quickly and just acting off. He wouldn't eat lunch which is another clue he's probably getting sick. He always acts like this when he's getting sick.

Jake is still gone and Kylie really misses him. He typically puts the girls to bed so last night I put them to bed at 8:15 and at 10:00 they were still up!! Kylie asked when daddy was coming home and I told her he wasn't and she started bawling but she did eventually fall asleep. Now today again she asked why he's gone and that she misses him. It made me think about parents that get divorced. A little girl I babysit for is 3 and her parents divorced a year ago. It would break my heart to have to hear "I miss mommy" or "I miss daddy" all the time.

Well, I'm off to do some more laundry. I'm on my 4th load with at least 2 more left today!

Back to Cleveland

Turns out we'll be going to Cleveland after all... Fargo can't do the MRS study they want done so we could either do it at Cleveland or Mayo. Since we've already got tickets to Cleveland we'd spend a lot more going to Mayo with having to cancel our tickets. So, Monday he'll have a pre-op and then Tuesday he'll have an MRI/MRS. We're possibly scheduling an echo of his heart for sometime in those two days too, I'm waiting for a call back from the nurse.

Emeric has a pre op today to clear him for his eye surgery on Thursday. I really think he's still got an ear infection since his ear is still draining so I hope they will still clear him. If not, the doctor is out until April on maternity leave so it'd be a long time before they can get it done.

In the meantime yesterday was a very bad day seizure wise. I'm wondering if it was because he was just overly tired and missed his nap but even still I hate that he'll have so many seizures just from missing a nap!

Jake will be gone all week trucking for his uncle. It's so cold there's no way they could work outside this week. I'm hoping he'll be home early on Friday since we're now going to Cleveland.

I haven't gotten much sleep at all lately! For some reason Kaydence has been waking up screaming throughout the night which keeps us up obviously and then this morning Kylie came in really early and would not go back to sleep. She said she had a bad dream. Maybe I'll get a nap today! Yeah right!

Not much going on here, which is a nice break! I realized I've been updating Emeric's Caringbridge site and not here so if you don't have that address it's: www.caringbridge.org/visit/emericswiers.

Our neurologist from Fargo called and apparently they can't get a test scheduled for Emeric that we need done. They don't even do it at that hospital! UGH! I'm hoping the other hospital does or we're going to have to go somewhere else and have it done. Possibly Mayo. We should find out today.

We've been having a hard couple weeks with Kaydence. I don't know what's going on with her but she's to the point of crying nearly all day long about everything. And she doesn't just whine, she full out screams to the point of gagging ALL THE TIME. It's driving me crazy! It's just over the tiniest things too like not wanting Kylie to sit by her, or Emeric is looking at her, or she wanted to pour her juice, or use a different bowl, or watch a different movie, and on and on. The tiniest things are setting her off and I can't figure out why. I'm suspicious that maybe she's getting a new tooth or has an ear infection even though if I ask her if anything hurts she says no and just screams louder. Last night she was watching tv after having a complete meltdown and she was fine and then she just started crying while watching the movie for no apparent reason. Whatever it is I hope it ends soon before I'm driven completely insane.

In other news Jake got pulled over last night and fined for expired tabs! How dumb. So now I'm off today to get new tabs for his ridiculously old pickup.

That's it for today. I've got 2 crying ones now so I better go!

It's funny to realize how kids think.

Kylie noticed Jake's parents cat in our yard and opened the door and was yelling at it to come to her. She kept saying, "Here Midnight, here girl" and the cat wouldn't come. She had this really confused look on her face and said, "Mom, is that cat a girl or a boy?" I said it was a boy and she stopped to think for a second and then with disgust she said, "I should've have said here BOY!" LOL I guess she figures Midnight was offended by being called a girl and that's why he wouldn't come.

If you need to find me...

I got the doctor's notes today in regards to this Creatine Transporter Defect. It isn't good. But... since we don't know for sure that this is what he has I thought I'd let you all know that I've been invited to join a friend on the banks of De Nile.

I plan on staying for a while.

Never the same

Nothing is ever what I say it is, or will be, around here. Everything changes. As soon as I thought I had January all planned out then Emeric's VEEG was cancelled. Now our trip to Cleveland has been cancelled. The neurologist called this morning and got back the results from a urine test we did about a month ago. I completely forgot we'd even done the test! I don't even know all of what he was testing for but he said the urine gives us a probable diagnosis and is as close to actual concrete evidence of a specific diagnosis as we've had so far. He believes Emeric has something called a Creatine Transporter Defect. Not sure on a lot of it right now but basically it isn't that his body doesn't produce creatine, it's that it doesn't shuttle it to his brain and muscles. Creatine is essential for energy metabolism. This defect can cause developmental delays, specifically an expressive speech delay, Epilepsy, Autism, and mental retardation. There's a specific DNA mutation that has been found with this defect so they're going to do a blood test to see if Emeric has this mutation. If he does than it guarantees he has this defect and there's no reason to do the muscle biopsy because the mitochondrial dysfunction and the dysfunction of the neurotransmitters would be being caused by this.

They will try to treat him with Creatine but since this defect was only found SEVEN years ago there's not much in the way of prognosis. I think it's dependent on how well he responds to treatment. Since this is an X-linked defect and boys only have 1 X chromosome they are affected more severely than girls because girls have the extra X chromosome to compensate. If that makes sense!

This is not a 100% for sure diagnosis but the neurologist feels pretty certain this is what we're dealing with. I'm not sure where that leaves us with the mitochondrial dysfunction or the neurotransmitter dysfunction. I'm assuming we'll get more answers after having these test results. Emeric will have an MRS(sort of like an MRI) done that will measure the amount of Creatine in his brain and the neurologist is expecting that he will have very little to none in his brain. If this is the case that gives us this diagnosis of a Creatine Transporter Defect as well.

I'm wary because as soon as I start accepting an expected diagnosis it changes! He does still have the mitochondrial dysfunction but it doesn't look like he has mitochondrial DISEASE. I know that's probably confusing and really the dysfunction can cause all of the same issues as the disease so it's all mostly medical jargon to me!

Please keep him in your prayers. And me so I don't go crazy waiting and wondering what the heck is going on now!!