April 24, 2013

A happy post (It's about time, right?)

   Do I dare say this out loud?  Not sure, but I will anyway.  My little girl is healthy and happy.  It has been a month since we were at the hospital and we have had no issues.  I thought she might have been getting sick cause she was sooo sleepy for a few days, had a little runny nose, and was very cranky but she fought it off like a pro.  Thank goodness!  Or maybe she was teething.  That would make me cranky and want to sleep the pain away. I don't know how to explain it, but I really feel like she is in the clear for awhile and good things are coming her way.
   Miss Sadie has been coming into her own lately.  She is happy, working on milestones, gaining weight (still slow but it's better then none), tolerating her food better and she is starting to show her little personality more.  I love it.  She is starting to "play games" with us.  For example, last night I was putting her to bed and I was cleaning her eyes and putting her eye drops in.  She allowed me to do her right eye and then when I turned her head to do her left eye she turned her head away from me real fast and smiled, so I moved it back again.  She turned her head away from me fast, smiled and laughed.  I thought "is she meaning to do this?"  I turned her head again, the same thing.  This happened like five or six times in a row.  Each time she laughed harder and harder.  I started to cry (tears of joy) and laugh because it is typical toddler behavior.  Sadie doesn't do typical.  This is typical and for a moment it made me forget about all my other worries for her.  Sadie always has the perfect timing and she always makes me appreciate and cherish the little things in life.
  Although I didn't capture this moment, I caught another one of her sweet moments and thought I would share her contagious little laugh with everyone.  Enjoy!

April 12, 2013

A broken heart will be fixed

   Aug 16, 2011, 28 weeks pregnant, I went for an US at a maternal/fetal medicine OB/Gyn specialists office.  I was going to a specialist because Sadie was measuring to small and I had not gained much weight.  I really had no worries going into this appt.  My family (mother, sisters) have had no issues with pregnancies and babies.  I just figured that I was having a small baby.  No big deal.  Babies are small all the time and they are healthy.  Wow! Did I leave that appt singing a totally different song.  This was the first appt I was told that something was wrong with my baby, she had a 2 vessel umbilical cord and she had a hole in her heart.
   I knew my world changed that day, just did not realize how much it changed.  For the rest of my pregnancy I was so worried about that heart.  I went into that OR for my C-section praying that her heart would continue to beat after she was born.  God was listening and that little heart never stopped or skipped a beat.  After she was born they did an echo on her heart immediately and said that her heart was strong and healthy (not nearly as bad as they originally thought) and yes, had a hole but it was stable and wound not need to be fixed until she was 5-7 yrs old.  I loved that idea.  Then as more things came to light about this beautiful little girl I pretty much "forgot" about her heart.  There were many other things that needed my attention.
  Over the past 17 months we have seen the cardiologist a few times.  Every appointment has been great.  Same report every time  "her heart sounds and looks great, follow up in 6 mo".  However, the last appt (6 mo ago) the Dr said "I'm thinking about moving up her heart surgery.  I'm thinking between 2-3 yrs old instead, but I'm not sure so we will just have to wait and see".  OK  Whatever, story of her life.
   This past Wednesday we went to the cardiologist again.  Same report as always "looks great, sounds great".  The Dr and I started to chat about everything that has happened in the past 6 mo with her health; 2 hospital stays, lung infections, mito biopsy results, GI issues, lack of growth/weight gain, etc.  It was decided that since she has had no issues with her heart and it is strong and healthy, we are going to go ahead and do her heart surgery sooner rather then later.  Our goal is to keep it strong and healthy and working to its highest potential especially when the rest of her body seems to be struggling at times.  Since, mito disease is unpredictable we just think it will be in her best interest to do it soon.
  We are going to let her body rest, heal up from the winter crap it has gone though, hopefully gain some more weight and then at the beginning of fall (Sept/Oct) she will have open heart surgery to fix her ASD.  I was really hoping that they could fix the hole by going up through her groin and using a guide wire and fix it that way, but because of the size of the hole and lack of tissue it is impossible to do it this way, so open heart it will be.
   Am I stressed and freaking out about this, no.  I have learned over the last 17 mo that I can only take one day at a time, concentrate on the here and now.  Sadie has taught me that you just can not predict tomorrow.  Why should I stress myself out about this when it may never happen?  So much can happen in the next 5-6 mo.  I do not want to waste my time and energy thinking about this surgery and miss out on the precious time I have with her.  I don't want to take that time and energy away from my other girls.  They deserve better than that.
   It's funny how time changes your emotions and thoughts, and well, everything for that matter.  It's just another lesson learned from Sadie.

*P.S.  Check back in about 5 months when it is closer, I'm sure I'll be freaking out by then. 

April 09, 2013

Mission 1 update 3

   I was wrong.  Those results are really not that great.  I called the genetics counselor (the genetics Dr's right hand man) today to ask her a question about our appt next week.  I mentioned that we got those biopsy results and she looked them up and explained a little more.  She stated that I was right that it does indicate that they are compensating for something.  What it is compensating for is for the mitochondria that is not working.  Her body is always working in overdrive and is trying hard to make everything work, which is causing her body it wear itself out faster.  The sad thing is that it is actually a sign of advanced disease.  She then says "but don't think about any of that until we get more results from her blood tests and we look at the big picture".  That's easy for her to say! It still doesn't make sense to me.  Why did it show that the mitochondria itself was working fine?  Uugggh, I just don't understand this stuff!

April 08, 2013

Mission 1 update 2

   Last week we went to the neurologist as a follow up to the hospital.  Of course we didn't see her actual Dr, we saw another Nurse Practitioner (NP).  This makes the third NP at this office we have seen.  The third NP that I have had to attempt to explain Sadie's history to.  It is so annoying and they all say to me, "you are right, she is very complicated and she really should just be following up with her Dr".  If they think this, then why don't they put this in her chart so that they stop scheduling her with the NP's?  Then again, at this point in time her Dr doesn't know anything about her either cause he hasn't seen her in almost a year.  So frustrating!  I have nothing against NP's.  Sadie is just too complicated to have to explain her story a million times.
   Anyways, this post is not about how much I hate the neurology office.  It is an update on
Mission 1, does Sadie have mito or not?  We got back another part of the results from her muscle biopsy.  The results were for the mitochondrial myopathy profile, which is also another name for the mitochondrial respiratory chain profile (I think).  The results showed that everything was within normal limits, except for a mito enzyme marker called Citrate Synthase.  I honestly am not really sure what exactly this means.  The NP attempted to explain it to me, but honestly I don't really think she understood what this meant.  But she said that this meant that Sadie's body is making too much mitochondria and like everything else in life too much of anything is not good.  The NP admitted that she and Sadie's Dr really didn't know what to make of these results, but they still believe that Sadie does have some sort of a mito disease based on past blood test results, the high level of that enzyme, and her presenting symptoms, they are just not sure which disease.  So of course they want to do more testing.  They are trying to get a mtDNA and a nDNA blood test approved.  *Sigh* I'm not holding my breath.  It took almost a year to get the muscle biopsy approved.  We shall see how long it takes for these tests approved.
   I'm not sure how I feel about these results.  The results are really not that bad.  According to this test, her mitochondria are working the way they are supposed to be (at least that is the way I understand it).  That is great news!  But why is her body making more mitochondria then it is supposed to?  Does that mean that they are trying to make up/compensate for something else in her body not working?  If so, what?  Is that even a possibility?  I don't know.
  Again, why does everything with this child have to be so complicated?!

April 04, 2013

New breathing issues

  While we were in the ER it was discovered that Sadie was having irregular breathing and unexplained oxygen desaturation.  This was one of the reasons that they decided to admit her.  She has not had issues with this in the past except when she has had respiratory infections.  They checked a chest x ray and that was clear of any infections.
  They came up with a few ideas.  1. Was her brain atrophying (shrinking)?  Her underlying brain condition can cause this and mito disease can cause this.  So unfortunately this is a very good possibility. To check for this she would have to have an MRI.  MRI's take a long time and she would have to lay very still.  For this to happen she would have to be sedated.  Sedating Sadie is very dangerous, because she is at high risk for malignant hyperthermia.  Since she had just had surgery on her ear, the Dr's (and I) felt like it was too close together to risk her safety at this point in time.  The MRI was out (for now).  Plus the fact that she is progressing in milestones we are taking this as a good sign that her brain is not atrophying.  2.  Was she having absence seizure?  This is definitely a possibility.   To check this idea we would need to get an EEG.  A long EEG.  The ones we have had in the past have all been less then an hour long.  At this point in time the Dr's want to wait to test this theory.  The last EEG did show changes in her brain waves for the possibility of seizures so they want to take this time to explore other possibilities to rule more things out.  3.  Is she having apnea?  If so, what kind?  The Dr's and I decided to explore this possibility.  A sleep study was ordered.

   The sleep study results showed that she has central sleep apnea.  Central sleep apnea is when you repeatedly stop breathing during sleep because the brain temporarily stops sending signals to the muscles that control breathing.  They tested/recorded her for approximately 8 hrs.  In those 8 hrs, she had 6 pauses that were greater the 20 sec.  The rest of the pauses were shorter pauses, but more frequent.  They also discovered that her breaths are very shallow when she is breathing.  With a combination of the pauses, shallowness, and frequency she is unable to correctly blow off her carbon dioxide and exchange it for oxygen.  They call it sleep apnea, but it is also happening during her awake time too.  The difference is since there is so much going on around her she triggers herself to breath with all the activity.
  Unfortunately, there is nothing we can do about this.  The breathing center in your brain is located in the medulla oblongata, which is located right below the pons.  We already know that her pons is small, the chances of her medulla oblongata being affected by this is a very good possibility.  If we got an MRI we could get a better pic of this area.  But as I said before, it is not worth the risk at this moment in time.  It is believed that she has probably had this issue since birth, but it was exacerbated by her 2 infections.
  What can we do?  We can give her extra oxygen at night.  No, this will not change the fact that she stops breathing, but what it will do is give her more concentrated oxygen straight into her nose to help compensate for the carbon dioxide that is not being blown off.  It will help deliver more oxygen to all of her organs.
  What else can we do?  We can thank God for every breath that this little girl has been given and continues to be given and pray that her brain triggers another breath. 

April 01, 2013

Really? A GI Bug, too?

  The day that Sadie's ear started bleeding she also was having issues with her stomach and intestines.  She was not tolerating her food AT ALL.  We messed around with the rate of her feeding pump, the amount of food that she was getting, how long between the feedings, "burping" her more frequently.  We tried all of the normal tricks that we try when she is having a bad food day.  NOTHING was working.  Since we had just changed her food the previous day I just chalked it up to just having to get used to the new formula.
  A day or two goes by in the hospital and she still is having a horrible time with her food. This seems a little bit more intense then just switching her food.  Sadie has never had this hard of a time.  The Dr's decide to put her on "gut rest".  Something just does not seem right.  Later, the Dr's decided that  Sadie has contracted some sort of a GI bug.  No food was going in, but lots of stuff was coming out from both ends of her.  My poor girl.  Now she has a horrible ear infection and this terrible GI bug.  She was in rough shape.
  However, she wasn't the only one.  Both of my other girls were at home with vomiting and diarrhea.  God bless my husband. Daddy doesn't handle sickness very well.  He is great for lots of hugs and kisses and comforting and giving medicine, but the clean up part... no.  His clean up job is to roll up the sheets and anything else that got messy and throw them in the laundry room until I clean them.  Lucky for the girls he didn't roll them up too (LOL)!  Also lucky for me my mother in law was coming over to take care of the girls that morning and she cleaned up all the sheets and dirty laundry.  However, I don't think she felt that lucky.
  So now we have Sadie in the hospital with the GI bug and ear infection, Chloe and Aubrie at home with this GI bug. Does it end there?  No, can we be so lucky?  No it's my turn now.  I was so sick, but I refused to leave Sadie alone at the hospital so I tried to hide it from the nurses and Dr's.  I did a pretty good job I thought until there was a nurse that was taking forever to leave Sadie's room and finally I said "excuse me, I have to go puke now."   So after that the Dr's and nurses were also taking care of me.  I felt horrible for making them deal with me, but what was I going to do?  At least my issues only last about 36 hrs or so.  Chloe and Aubrie's issues only last about 24 hrs or so.  Poor Sadie she always gets the worst of everything.  Her vomiting lasted 4 days and she still has terrible diarrhea (9 days later) which has caused a horrible rash on her rear end.  I don't know how my husband escaped this bug, but he did it.  Thank goodness!

The bloody ear

  This little ear was the reason we came to the ER.  Yes, I am a mom.  Yes, I am a nurse.  Did I know what was going on with my childs ear.  No. 
  Chloe is 5 and Aubrie is 3.  Neither one of them have ever had an ear infection.  I always thought I knew what to look for, but apparently I don't.  Or then again, maybe it's because Sadie is not your typical baby with typical symptoms.  Who knows!
  A CT showed that Sadie had mastoiditis, which is a middle ear infection that extends to the air cells of the skull behind the ear.  In Sadie's case what happened is that her ear tube got clogged, so her ear was unable to drain.  Which caused the infection and pressure to travel up into her mastoid bone.
  How did the Dr's fix this?  They took her to the OR, sucked out all the thick fluid, pus and blood that was trapped in her ear and replaced her tube with a slightly bigger tube. 
  She is now on oral antibiotics and antibiotic ear drops.  She is feeling way better and no longer ripping at that ear or her hair around it.