We've had a couple of extremely busy weeks.  Alexa has been doing so/so.  Not any worse than usual and not any better.  We're starting to get used to her new diet but it's still hard sometimes.  Like when she looks at you with those sad eyes pleading with you for her favorite goldfish and the disappointment you see instantly spread across her face when we have to say no.  It makes me sad that we cant give her the simple things.  Kevin is really bad at sneaking her things she shouldnt have.  Yes, he is the good guy for that moment but it usually means we're going to have a bad night.  I'm the one who usually gets stuck with the suctioning so I guess he doesnt realize how bad it can be...

We've been enjoying this beautiful weather.  One of Alexa's favorite things to do is to swing.  It's nice because even on one of her bad days we can strap her in her swing and she can be outside getting some fresh air.  She's funny because she's excited everytime you push her squealing and giggling away.  You cant help but laugh along with her.  We dont have a swing set, but I'm trying to get my dad to figure how we can put Ali's swing up outside.  For now we can go to the park or to my parents house.  Another of Alexa's favorite outside things is bubbles.  They make her so happy.  I can literally blow bubles for a half hour and she never gets tired of them.  She love to el "help" me blow bubbles.  ALexa has a hard time with her temperature regulation so it is a constant battle to keep her temperature regulated for her.  One day last week I noticed she turned bright red and was burning up.  I had to strip her down to her onesie, and shoes to help cool her down.  We're talking about getting her an air conditioner for the hot weather.  All the doctors think that will be safest for her.  So we're saving a little bit each week so that we can get one before the weather turns to hot. 

We have a potential new nurse starting this week or at least orientating.  I'm not sure exactly how may hours she's available for though.  I feel as though sometimes with the nurses coming in it's harder than when it was just us.  I know that sounds silly, right.  I think that having someone constantly there, meaning my family is constantly on....  Kaylie has to be on her company behaviour, we all do.  And sometimes you want to just be able to have a pj day or not clean until late morning or even nap when the baby is napping.  Thats all gone now.  I know it sounds like I'm complaining, I'm not. I am very grateful for the help, it's just I'm more exhausted after a week with them than I am when it's just me and the girls,  I know we're all just getting used to everything and this all just takes time.  So I'm patiently waiting for that time to come. 

We went to see Alexa's genetecist this week.  Lately we've started to question whether or not Alexa may have a mitochondrial disorder.  Mitochondrial disease  is the body's inability to turn food into energy to sustain life.  Mitochondria are the power plants for almost every cell in the human body.  I've been reading up on this a lot lately.  One of Alexa's nurses gave me a ton of reading material.  The more I read the more I believe this may be what's causing Alexa's issues.  One of the things I read is that it is very hard to diagnose, but that they should start questioning it when they see these things.  Developmental delays, visual and hearing problems, lactic acidosis, cardiac disease, liver disease, seizures, susceptibility to infections, muscle weakness, diabetes, respiratory complications, loss  of motor control, gastro intestinal disorders and swallowing difficulties, and poor growth.  She falls into almost every category except diabetes, liver disaese and we're not sure about lactic acidosis.  So when we saw her genetecist this was a big question I wanted answers too.  Early into this diagnosis process we had questioned this, but the doctors wanted to wait because they feel so many doctors use this as the catch all for everything they cant diagnose right away.  I agreed that I wanted them to look more into her personally than to just give her a blanket diagnosis.  Now it's time to look at this again.  Her genetecist agrees that this is a possible diagnosis that would explain a lot of her unexplainable symptoms.  He also believes there are a few other things he wants to look at.

One of the things that her genetecist is looking at is whether or not she may have a disorder where her cells cant get rid of their own wastes.  I'm not sure what the name is even though he said it a few times.  This would explain the worsening of her symptoms lately.  Another thing he mentioned  is that because Alexa has a few genetic anomalies causing her different diagnosis that maybe the overlapping genetic issues are causing things to happen that they dont normally see because she is in a category all of her own.  He is going to test her spinal fluid for some things reguarding the mitochondrial disease.  Also when we go in for her preop testing he will do some more genetic tests reguarding the cell waste disease.  He's going to have them also freeze some of her spinal fluid so they wont have to repeat a lumbar puncture if they come up with more tests they want to run on her. 

Her genetecist is great in that they are able to explain so much to us that some of her other doctors neglect to explain.  Recently Alexa has been having many bloody noses, and bruising quite easily as well.  She apparently has a clotting disorder caused by her Noonan syndrome.  He'll be testing her CBC and clotting factor before she has her surgery to make sure things are safe.  He also explained the difference between hypotonia and muscle weakness.  This was good because I've been questioning how her muscle disorder will progress.  Alexa has both hypotonia and muscle weakness.  Hypotonia is when the muscles are more lax.  For the average person your muscles are usually always at the ready.  So when we move our arms it just snaps to it.  For someone with hypotnia there muscles are really relaxed and have to work just to get to the point of readiness.  This doesnt usually ever go away its just that a person is able to compensate for the hypotonia as they develop more muscle mass.  In Alexa's case she also has a muscle disorder making her weak.  Muscle fibers are supposed to be interwoven making a tight weave with Alexa they are all different sizes with some missing and pretty jagged, not doing their job.  So she is unable to form new muscle mass and as she grows it becomes harder for her muscles to work properly.  Part of the reason we see her get so fatigued by the end of the day is because her body has been working overtime just to do normal things.   She has a real hard time conserving her energy.  So that is something we're trying to work on.  It seems like lately she uses her days energy in the first 2 hours of being up.  So that by the end of the day she has a hard time moving.  She is usually content to just sit and cuddle with me, molding her body to mine so she doesnt have to move at all. 

What does this mean for Ali's future, reguarding the muscle disorder?  I dont know...  She will most likely lose the ability to walk.  I guess it will start to get more difficult for her to complete normal tasks, an she will start to fatigue even more quickly.  Just as her swallowing has gotten worse because her muscles cant handle it, we should also expect the rest of her muscles to do the same.  We dont know how quickly this will all take place.  I'm hoping for never...  Realistically it should be over the next few years. 

I've also been terrified of infection lately.  I've come to realize that this will most likely be what ends Alexa's fight.  She seems to get infections soo easily.  Her body cant fight off simple things because it's working to hard to make the rest of her function.  I get goose bumps while writing this, as it seems to negative a thing to write. 

I need to just add that as I've been writing this I've had to stop multiple times to suction Alexa.  This is not an abnormal occurance, but I hate seeing her so helpless and scared.  I just wish that she didnt have to go through any of this.

No pics this time, it takes to long to upload them.  I promise to have some cute ones for next time though.