Can't she catch a break?

   As I had mentioned yesterday in my post Sadie is sick, again.  Silly me, I actually thought that since she was sleeping all day yesterday and not coughing very much she was on the mends.  Could this possibly be just a short little illness?  Nope!  My baby woke up this morning screaming and inconsolable.  This time it was a painful scream and a "don't touch me" scream.  Then she coughed. It was a horrible, gunky, nonproductive kind of cough. You could tell it hurt.  It hurt my lungs just listening to her.  You could hear the gunk sitting in her lungs.  Off to the Dr we go.  Sadie's normal pediatrician was off for the day so we saw a Dr that has never seen Sadie.  Great!  I have to go through her entire history.  So after being there for an hour and a half he decided to do a chest x ray.  Lo and behold the little girl has pneumonia.  Really?  Can't she just catch a break?  Luckily for now we are just going to fight it at home.  Her oxygen level isn't too low and she doesn't seem to be struggling at all to breath. So for now we sit and wait and take antibiotics and pain meds and pray to God that she gets better and not worse.  Please send a couple prayers for her.  I don't want her to end up back in the hospital.

Where did she go?

   Where did my healthy little girl go?  For 14 months I had a healthy little girl.  Never sick.  An occasional "off" day where she couldn't tolerate her food or she was super tired for an unknown reason, but she was never sick.  Yes, we went to a bazillion Dr's but it wasn't because she was sick. We where learning who she was and putting her puzzle pieces together (which there are still a handful of pieces missing).   I was never uncertain and scared about her future.  Well, originally after finding out her prognosis I was scared but after the initial shock of it was over and I mourned, I never thought about it much.  I'm sure I never really thought about it because she wasn't sick.
  Well, the last few months have thrown me for a loop.  Sadie is sick.  She has pretty much been sick this entire year of 2013. We have had around 10 days or so of occasionally being healthy.  Sadie started with RSV and seizures (which thank goodness the seizures didn't continue after the RSV was gone) and then a couple weeks later she got another respiratory infection and then that went right into a GI bug.  The GI bug lasted for the entire month of February. It was 2 1/2 weeks of diarrhea and 2 weeks of trying to get her back onto her normal feeding schedule again without causing to many cramps and stomach pains and trying to get rid of the horrible rash from the diarrhea.  Then March started and I thought "finally, she can breath, she can eat, no rashes, her poop is normal.  Life is good again".  I shouldn't have even thought it.  I'm pretty sure I jinxed myself.  Sunday, a cough here or there.  Monday, the same thing.  Monday night, all hell broke loose.  She started coughing and choking (good thing we have Mr. Sucky) and she became inconsolable.  This continued all night and all day Tuesday.  It was horrible! She finally took a good 3 hr nap Tuesday evening and then woke up screaming in pain and again completely inconsolable.  That continued for a good 3 hrs straight and then after both Tylenol and Motrin in her, she passed out and slept all night, not even any coughing.  It was fabulous.  Just what she needed and just what I needed... pure sleep.  Then this morning she woke up screaming.  She continued to scream and scream and scream.  I had no idea what to do for her.  I felt completely helpless.  All my tricks I have for her, where not working.  Then all of a sudden she stopped crying, looked at me calmly, and passed out. I actually woke her back up cause it happened so fast that I thought it was a "bad pass out", not a "tired pass out". That is how she has been all day, passed out.  She will wake up, look around, not moving her body hardly and then pass right out again.  Not to much coughing, which is great.  However, when she does cough, you can just hear the gunk sitting in her lungs.
  Yesterday was rough.  Physically for her, emotionally for me.  I balled my eyes out, completely stressed, feeling as helpless as I ever have.  Probably had a lot to do with a lack of sleep, but I just feel like I can't get a good handle on her health.  I feel like we are leaning in the right direction and then in a blink of the eyes, something is wrong with her health.  I can't regain my energy from one sickness to the next.  And obviously either can she.
  Here is my BIG question.  Is she getting sick all the time because it is a crappy year for winter illnesses and my poor girl just can't catch a break or is her underlying disorders getting worse?  That's what scares me.  I can't seem to get that out of my head.  I think that is why with every illness, comes another emotional breakdown from me.  I wish I had a way to know.

Those sweet little ears

  Lets chat about Sadie's sweet little ears.  Oh those ears.  We are at a point that more decisions need to be made in regards to her hearing, her future.  Do we pursue hearing aids?  Do we pursue cochlear implants?  Do we do nothing?  These are our 3 choices.
  Since Sadie was born she has had multiple hearing tests.  All different kinds.  She has had sedated tests and awake tests, some formal and some were informal.  They all gave us the same result, she is deaf.  I have heard that it is mild in her left ear and profound in her right.  I've heard that it is profound in both.  I have heard that she has intermittent hearing.  I have heard that she hears, but that her brain can not interpret what she is hearing, so it just sounds like noise in her head.  You name it, I have heard it.  (Before Sadie, I didn't know there were so many different kinds of hearing loss. I thought deaf was deaf.  I'm sure there is way more that I haven't heard. It's crazy.)  These are all the "professionals" opinions and diagnoses.
  Then we have all the opinions and observations from family and friends that are around her frequently.  Sadie can hear.  Everyone agrees that she is hard of hearing, but everyone seems to think that she is hearing something.  Why?  because she will turn her head to find noises/voices (occasionally) and she will have "conversations" with you (occasionally), and she still makes a lot of babbling noises  (which are supposed to disappear if a child is deaf).  Sadie truly makes you believe that she can hear you.  Is it coincidence?  Is it that she feels the sound vibrations?
  So one of the questions is why such a wide variety of opinions?  I have gotten many of explanations, from many of different people.  All their opinions make sense, but it only makes sense in regards to what their opinion is to what they believe she is hearing.
  Here is what I think.  I am her mom, who is with her 24/7 and know her better then anyone else in this world.  This is also coming from her mom who knows a lot about the medical world to be dangerous, but not enough to be completely confident in my reasonings and explanations.
  I think that all the hearing tests that have to do with placing probes on her head to measure brain waves as she "hears" noises are not accurate.  Why?  Because those tests are designed for people that have their whole brain.  Sadie has 3 underdeveloped parts of her brain.  They obviously don't work or work differently then yours and mine.  I do believe that she is extremely hard of hearing.  My two other girls can scream and laugh by her and she does not even budge.  I also believe that she can hear at normal volumes because we can talk normally to her and she will coo and turn her head to look at us.  So in my opinion, as her mom, who is with her 24/7,  I believe that she has auditory neuropathy.  Which is intermittent hearing and it is were she just hears noises, even if we are saying words to her.  I believe that her auditory nerve randomly works allowing her to hear things, but not well enough to actually develop language and not often enough to convince everyone that she can hear something.
  This is what I think, but I'm not an expert on hearing, just and expert on my daughter.  I don't think that hearing aids (HA) are going to do anything.  I think that they will annoy her more then anything.  It will amplify the "noise" that she hears (and since the experts say she has severe hearing loss, it will be set at extreme loudness).  I think that cochlear implants (CI) will not work because I don't think her auditory nerve is strong enough to make them work (plus if she gets a CI she will never be able to have an MRI done again because of the magnet in her head).
  So at this point I just want to do nothing.  I want to concentrate on teaching her how to communicate.  Communication is way more important then hearing.  So we will be using and teaching sign language.  Of course there is a dilemma with that.  What if she never has the mental capability to sign with us?  What if I deny her the use of HA or getting a CI?  Would those be better then nothing?  What will her future communication be like?  I honestly try not to live on "what if" and "think about the future" kind a questions when it comes to Sadie.  I really want to live in the here and now.  However, those questions creep up and bite my butt every once in awhile.  I am still human and it is hard to not think about the future.
  Oh those sweet little ears?  What am I going to do with them?

World Rare Disease Day

More then 7,000 rare diseases have been identified, affecting 1-10 people or 30 million American

Two-thirds of American patients with rare diseases are children.

Only a few hundred of the 7,000 rare diseases have approved treatments

Please donate money to a specific research that is personal and important to you or NORD (National Organization of Rare Disorders) to keep the research going.  We need to find more cures!

 

The New Toy

  Sadie does not know how to play with toys.  She looks at them, but does not grab at them.  She used to hold things in her hands after you put them there, but she has lost that skill.  We are not sure why she lost it, but we are working on getting it back.  It seems to have disappeared around her hospital stay in January, maybe it is due to all the hand poking and arm holding in the hospital with IV's and blood draws.  Who knows, but we are working on the skill.
  Thia week her OT (occupational therapist) brought some push button toys.  They are big toys that have very simple, easy buttons to push.  It teaches cause and effect and helps her self esteem to know that she can do something and make something happen.  She loves them!  She is not to sure about using her hands yet, but it's a work in progress.  Her is some pics of her playing with her light/vibrate push button toy with her feet.  Please excuse her morning hair.  She would be embarrassed to know I put these up ;)

 

 

 

 (this is a laughing/happy look)

 

I tried to show the sequence of her pushing the light, but it's kinda hard.  Sadie would pick her feet up, put them down the light would come on and vibrate, she would laugh and get all excited, stop by pulling her legs back up and do it all over again.  It's so funny to watch her.  I'm so excited for her.  You can just see her amazement and wonder with the fact that she is causing it to happen.  It is a reminder that it is the little things in life that matter.

 

I am "that crazy mom"

  I am an trauma RN.  I am a bedside trauma RN in a hospital. I deal with patients.  I deal with all sorts of patients, broken bones to illness, rich to homeless, crazy to sane, drunks to sober.  You name them, I take care them.  No matter why the person is admitted to the hospital, I don 't get to choose if I want to take care of them.  An oath that all medical personnel take is to treat all individuals fairly and equally no matter the circumstances of their admission.  But even with that being said, it's hard not to judge and form opinions of people.
  Recently, I took care of a woman who comes to the hospital frequently, not just the hospital I work at but many hospitals, both in the state and out of state.  Why?  She is painful.  No one seems to be able to figure out the reason for her pain.  So she has slowly gained the title of "crazy", and that the pain is psychological.  I sat down and chatted with this woman for a pretty decent amount of time and learned her story and heard her frustrations.  She told me that everything that she has been through and that she looks up every disorder that she hears that could possibly lead her in the right direction and she looks up her many symptoms to see if anything goes together towards a disease/disorder.  She stated that she has been doing this for years.  I could see why people think she is crazy.  This has been going on for years and no one can find anything.
  After I left her room and had time to sit down, I started to think about the conversation.  How frustrating to keep searching for something and never get any answers and have people start labeling you crazy just because they, the Dr's, don't have answers.  Then it dawned me.  That is what I am doing with Sadie.  Yes, the situations are slightly different, but they are also the same.  We are both searching for a needle in a haystack and after a while you feel like the Dr's are not helping you and you are alone in the fight. Any teeny, tiny little clue you get, you run with it weather it makes sense or not. I no longer saw this woman as crazy, but just frustrated and desperate.  I felt her pain.
  I guess I will eventually gain the title of "that crazy mom" (if I haven't already gained it, haha).  I am ok with that.  My daughter is worth every name that I will be called behind my back and maybe even to my face.
  Guess who has learned a lesson in assuming and labeling people?  Me!  Guess who taught me that lesson?  Sadie!  Guess who will be a better person for learning that lesson?  Me!  Guess who will remain clueless and somewhat idiotic?  The people that don't have Sadie or a child like Sadie in their life to help open their eyes.  Again, how lucky I am to have her!

2 Missions

Mission 1.  To find out if Sadie has Mito disease.

  People ask me all the time "what can I do to help you?".  I say "nothing".  Why?  Because I've never been one to ask for help.  I am very independent and I figure things out on my own.  Plus, I don't exactly know what "help" to tell people.  This is both a strength and weakness for me.  I've learned over the last 15 mo that I can't do everything on my own, I still try too, but I have learned to ask for some help. Honestly it kills me to ask, but... I'm trying.  So when I get help unexpectedly, I am so thankful for it.  Especially when it's just what I needed, it makes me feel a little more hopeful.  It makes the fire under my behind a little more hotter.  I feel renewed in a way.  Does that make sense?
  My sweet sister in law (my brothers wife) joined in my mission to find a mito Dr for Sadie.  She has a connection at a childrens hospital in Indiana and asked if I minded if she asked around for a Mito Dr.  Minded?!! I asked her "why she has held out on me this long".  But, it's all good, everything comes in due time. She asked around and sure enough they said there was a good peds neurologist that works with a lot of mito kids at this hospital.  I did some research of my own and then gave the Dr's name to Sadie's pediatrician.  She is going to look him up and if she agrees then she will get an authorization from our insurance company.  Hallelujah! I may actually be getting somewhere.  We shall learn this week or the beginning of next week if this Dr is approved.  Fingers Crossed!

Mission 2. To find out what type of Pontocerabeller Hypoplasia (PCH) Sadie has.

  There are at least 6 types of PCH.  I have known this since the beginning.  Some of them are very obvious that that is not the type that Sadie has and then a couple are a little questionable, but none of them really fit her.  When I took her to the geneticist 8 months ago the Dr said that trying to figure out what type she has without her matching more of the types that trying to test her would be like looking for a needle in a haystack.  I excepted that answer.  After all, there are a bazillion genes in our bodies.  Well... I don't except that answer anymore.  I recently "met" in a support group online some wonderful families who have kids with PCH.  I don't know why I haven't "met" this group of people earlier.  But again, everything is in due time.  After chatting with them and reading some of their information, I realized that a lot of them know what type of PCH their child has.  So, it must not be too hard to figure it out, right?  I asked some questions and got some ideas from them on how to get her diagnosed with a type.  I called Sadie's geneticist today and had to leave a message.  Hopefully, they call me back today and I can ask my questions and hopefully get some blood work ordered.  We shall see.  Again, fingers crossed!