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.

Hospital stay

Alexa has had a pretty rough couple of weeks.  Seems like I've been opening with this line more frequently lately...  On Tuesday 3/28 we were orienting with our new nurse.   As I was doing Alexa's hair the nurse noticed a large raised lump on Alexa's neck.  It was slight pink and about the size of a large grape.  It had grown there overnight.  The previous night Alexa did have about 50 episodes of apnea which is an unusually large amount for her, they also required some very vigorous stimulation to get her to breathe again.  I wonder now if this was her bodies way of letting us know somenthing else was brewing.  Anyway when our nurse (Jeanie) saw the lump she thought there was a logical explanation, but of course there wasnt.  We rushed to the local ER.  I think I was in panic mode.  It's funny because when it comes to pnemonia, her high fevers, and even suctioning I am calm as can be, but this was a new unknown and my heart was racing.  We probably should have just taken her straight to Childrens hospital Boston, it would have saved a lot of time...  I'm going to probably bore you a bit here as I want to document the times we got everywhere so that next time I think going locally will save time I will realize how wrong I am.  We got to the local ER around 10am, and were seen relatively quickly.  We were told we were being transferred to Childrens by about 1130 and did not leave by ambulance until around 2pm.  Just to go to Childrens hospital ER and finally be admitted to the ICU at 11pm that night.  Needless to say Alexa was exhausted.  Childrens is really good in the fact that they do a lot of the testing and IV placement before we get to our room.  (thank you Steve from the IV team who is the only one who can ever get an IV into our Alexa)But still it was a 14hr day.  By the time they were done checking us in on the floor the doctors examining Alexa and the nurse asking all those redundant admission questions it was closer to 1:30 am. 

Through the course of the day Alexa's lump nearly tripled in size, and became bright fire engine red, indicating she was developing cellulitis.  This thing was huge.  They had taken an ultrasound when we first got to childrens ER and said that it was mostly swollen tissue mass and there wasnt enough fluid to drain yet so they started her on IV antibiotics.  I'll post a picture we took of her mass early in the day, just remember it got to be nearly three times this size and had a bright red rash spreading.  They decided to drain it by the next day.  They sedated her and did this at her ICU bedside.  I was able to hold her hand throughout and Kevin watched.  (all set with that).  He said they were just scooping pus and drainage out.  Turns out she had a necrotic lymph node that they removed.  They packed the wound and left a wick sticking out to let it drain.  They also took a wound culture which is very important to see what type of bacteria is growing and what is the cause of this, and helps them to figure out what antibiotic will be best to treat it with.  We were afraid it was MRSA, fortunately it wasnt. 

They started treating Alexa with a broad spectrum antibiotic, but it wasnt doing the trick when they got the results back (not until Thursday) from her wound culture they switched up her antibiotics and we saw a marked improvement literally overnight in her cellulitis.  Each day they assessed her wound and pulled some of the packing out of it.  This was a very painful procedure.  I asked that she be medicated prior sometimes the docs in their eagerness forget that the little ones feel pain too.  One doctor said it was more anxiety based than pain and gave Alexa ativan and tylenol.  When they changed the dressing she was literally shaking in my arms in pain.  I felt terrible.  She is also never allowed to take ativan again as it had the opposite effect on her and was making her climb the walls... literally...  We ended up having to pull the top down over the crib because she was trying to climb up it to get to the monitor screen.  It was bizzarre we couldnt let her walk because she was unsteady on her feet, but thats what she wanted to do.  Needless to say the next day I demanded pain meds and said NO more ativan under any circumstances.  They listened. 

We ended up leaving late Saturday to come home, after persuading them that this is a better healing environment for Alexa.  They had innittially wanted us to stay until Monday.  We needed to come home.  Alexa went on food strike while in the hospital and refused to eat anything by mouth.  She has since started eating her purrees again.  I have to say that when Alexa came out of the hospital her lungs sounded better than they had in a long time.  I think all the strong antibiotics they had her on really helped with that.  This lasted until today and she has again started up with mucus and a rnnny nose...  Wrote this part last Wednesday.  She now has a full out cold again....  Poor baby cant seem to get this to stay away. 

While we were at the hospital Kevin was able to come spend his nights with us.  As Boston is halfway to Andover, this was a blessing.  Although the sleeping arrangements were a bit rough.  If you've ever seen one of the pull out mattress they have you'd understand why.  It's literally about 18inches wide and so thin you can feel each and every spring.  It must of been amusing to all the nurses seeing us try to accomplish sharing this.  lol.  Kaylie stayed with my mom and we were so blessed because a wonderful friend of my mothers was staying with her and Kaylie had a fantastic week.  Probably had more fun with Cheryl than she normally does at home. They even came to visit us one day that week.  Alexa was soooo excited to see her big sister.  She also got to spend some quality time with my nieces and her Uncle Matt and Auntie Mary.  Thank you to everyone who helped out with her it's so nice not having to wory that she will be loved when we cant be there.

We had our nurse Jeanie come again this week.  She is wonderful, I cant say enough good about her.  I thought having someone else in my house for 12 hours at a time would be stressful...  It so wasnt she fit right in with our family, and we were all completely at ease.   I jokingly said that she should quit her full time job and come work for us, I think I was almost serious lol.  Alexa took to her pretty quickly, and was asking for her "Meanie" today.

We are still looking to fill about 20 hours a week.  One of the nurses we had lined up had something come up and isnt able to take on any hours right now.  So we now are going through an agency.  I was so against this at first, but I think this will take some of the pressure off me to find her nurses.  I'll still have ultimate say over who comes into my home.

It seems as though Alexa has been more susceptible to infections lately.  Its scary how things just seem to overtake her.  Her speech therapist mentioned this week that she's noticed a decline in Alexa.  Seeing her everyday its sometimes hard to see a difference.  I know logically she's been having a difficult time, but its one thing to have those scary thoughts and to be able to hide them away.  Once it's said out loud it becomes more true, more real.  I dont know if that makes any sense or not....  I have to just keep remembering to love her one day and one moment at a time. 

Depression seems to be creeping up on me again lately.  However it's been held at bay by the wonderful people we have surrounding us.  It seems like lately everytime I feel like I'm getting overwhelmed or down someone is there to hold me up.  It's the little things, but there have also been some big miracles as well.  We've been blessed to feel love from the people who've known us forever and then from others who dont know us at all.  We appreciate everything everyone of you has done.  I just hope that one day we are in the position to help pay it forward, and help somebody else when they need it most.  Thank you for making our lives a little easier, making us feel so not alone, and terrifying.