That old addage “preparing for the worst, but hoping for the best”… that is where I am right now.  I’m tired of crying about the “what if’s” and the “could it really be true,” I’ve decided to just prepare myself for the worst — that she has Niemann Pick type C, the lead diagnosis we are currently waiting for the skin biopsy results on.  Even if she has Gaucher’s, we still have more hope as there is some treatment available.  Anyone who knows me personally knows that I am not the type of person to sit around and do nothing and wait.  I admit I’m impulsive, and when I have my mind set on something, I will do what it takes to make it happen.   

I have been talking to a few moms of children who have Niemann Pick type C via email, and I even spent an hour talking to an amazing mom from Canada who just got the skin biopsy results the day before I talked to her.  Her toddler boy has NPC.  They all opened their hearts to me, let me ask questions, and gave me such support that I truly feel stronger now.  I look at one mom who I’ve been email with, Chris, who has gorgeous twin girls with NPC.  She is so amazingly proactive — getting the girls’ story on television, prominent scientific magazines, fundraising for research.   She told me to get started now and prepare…just in case.

So, that’s what I’m going to do right now.  Prepare for the worst, and pray for the best.  If it is NPC, then I want to be ready the day we get the diagnosis to get Hannah everything she needs.  If it isn’t NPC, then I will have somewhat wasted a couple of months — but it is not really a waste, because for everyone who reads this blog, they now know what Niemann Pick disease is and how devastating it is.  Exposure is so important with this disease. 

I have dozens of ideas in my head right now.  I know I’m going to need A LOT of help from my friends and family — both resource-wise, brainstorming, and even fundraising support in their local communities.  i need to work on a game plan.  I need to have everything ready so IF the day comes and it is NPC or Gaucher’s (since I’m going to plan for both), then Hannah will have everything she needs THAT moment the word comes down.  And if it isn’t either NPC or Gaucher’s, I will work on this plan until the day that a diagnosis IS found for her condition.

I’ll most likely be sharing most of the ideas here in my blog.  This is the “ground floor” of getting Hannah well.  I’ll be damned if I don’t try everything in my power to keep Hannah well and give her a long, happy, and comfortable life!

Just one week shy of her 4-month birthday, Hannah reached out and grabbed a toy for the first time!!  Yay!  An important milestone reached!  I hope she continues to try and reach for everything she wants!

[youtube=http://www.youtube.com/watch?v=o3tTcUOb7vw]

The lady from ECI came over this morning.  She is a nurse that works to assess children to see if they qualify for the early intervention group of programs.   We went through all her symptoms, and the list of specialists that she currently has (a pediatrician and 5 specialists).  Because of Hannah’s possible diagnoses, she is automatically eligible for services.  (I don’t know why that is more upsetting to me than comforting.)

Long story short, we have another meeting with an ECI specialist and a nutritionalist (because of Hannah’s possible metabolic condition) on December 3rd.  They want to have Daddy there too, because that meeting is to come up with a plan of action.

Since Hannah is really too young therapy services at this point, I think, the nurse said they may just monitor her monthly just to keep tabs on her development.  If she does show signs of any type of delay, the appropriate therapy will be ordered immediately since she will already be in the system.

Her eye doctor appointment went better than I expected.  I kept thinking how much I hate getting those eye drops in for dilation and sitting there staring into those machines.  How the heck would they get an almost 4-month-old baby to do that?

Well, they used drops that first numb the eyes that supposedly feel like water.  They must have been close, because Hannah was a bit annoyed at first, but then she got over it.  Then, about 5 minutes later, they did the dilation drops, and she took it very well!

We had to wait 30 minutes for the drops to set in. 

Good news — no cherry red spots!!!  Not sure exactly what this rules out, but I know it isn’t the NPC or Gaucher’s.  But perhaps it is another type of disease that they can rule out.  Her eyes are anatomically normal!

She is a bit delayed developmentally with her eyesight, however.  It takes her awhile to find a noisy object.  Sometimes, she just doesn’t find it and isn’t really looking for it.  But when she does lock into something, she definitely can stay fixated on it.  Definitely something to bring up to ECI tomorrow.

Another appointment down, another one tomorrow.  Oh yeah, she has her ENT (ear, nose, and throat) doctor on Monday to check out her breathing and swallowing issues.

What I would give for some answers right now.

Hannah is 13 lb 1 oz!  I cannot believe how much she has grown!  I mean, she was 12.8 lb when they did her skin biopsy last week!  Crazy, crazy!

Her liver does seem bigger to him, maybe by a centimeter or so.  Her platelets are holding stable at 103,000.  Her spleen is still enlarged at 6 cm. 

He also started her immunizations.  Better late than never.  He did the 3-in-1 shot, but he is going to do this slowly and not do all the 2-month-old shots just yet.  Because her spleen is involved, he doesn’t want to overwork it with all these immunizations, even though he got the go-ahead from the genetics doctor.

New symptom or not…she has this, I’m not sure how you would call it, like an rough-skin patch on both of her ankles.  He termed it lichen-something or other.  I have an email to him asking him for the name again.  So, he wants us to slather them in vaseline tonight and cover it with a sock overnight.  Kind of like Big Boy E’s eczema outbreak routine.  He says it could be something related to whatever she has, or it could be totally separate.

The breathing issue is getting worse, and he wants us to see an ENT (ears, nose, and throat) doctor now.  Not like she doesn’t already have enough doctors already (this will be #6).   He saw the gasping when he was examining her.  It isn’t like she is struggling to breath, because I do look for the signs of that (nostrils flaring, chest retracting, etc).  She just gets so riled up with excitement sometimes that it starts.  But usually, it just happens mildly — that is what he saw. 

He called her a medical mystery.  I hate that.  I called my mom after the visit, and she told me I sounded “deflated.”  Honestly, that was a good description of how I felt. 

Tomorrow is the opthamologist for a retinal exam.  I’m PRAYING they don’t see any cherry red spots in her retina.  If they do find it, it means she most likely does have one of the lysosomal storage diseases (like NPC or Gaucher’s).  If she doesn’t have them, that still doesn’t rule those diseases out. 

I wish we could get something concrete soon.  Off to cuddle her some more…. her smile just melts my heart!