I just checked on you.  You were sleeping so peacefully in your bed.  Your hands outstretched.  You even kept throwing glances of a smile.  Were you dreaming?

I’m sorry for the hell you went through today.  You have been through so much already, and you handle it all so well.  When you were screaming when they put that scope down your nose, it was all I could do not to tell them to stop right there and forget about it.  You have had more blood pricks and blood draws than your daddy and I put together.  I’m so sorry.

I wish I could help you.  I don’t know what to do.  I can’t stop crying right now because there is nothing I can do.  I want to be proactive and do whatever it takes for you.  But no one can tell me what is wrong.  No one can tell me what to expect?  If you have NPC, am I going to lose you in the next couple of years?    I can’t bear that.  If it isn’t NPC, is it going to be another disease that will take you away from me? 

After hearing today that you may need to have a breathing tube and/or a feeding tube in the near future just wrecked me.  I have kept it together up until now.  But, I don’t know, maybe it is just the reality of what is going on that finally hit me.  I don’t want to see you deteriorate.  I don’t want to see you suffer.  This is just so cruel, you don’t deserve this.

You make me so happy, my little ladybug.  From the day you were born, it was all I could do but hold you on my chest.  These days, there are many times that I’ll snatch you from your bed just so I could cuddle with you.  Our favorite position is you cuddling up against me sleeping.  You are so peaceful in that position.  I hate letting you go.

Your daddy just called me on the phone.  He is on his way to work.  He wanted to know if I was okay.  I lost it when we got home from your doctor’s appointment.  I feel so bad for him too.  He is going through all of this too plus he has to work.  He doesn’t get to stay home with you every day and spend time with you like I do.  Why do you think he wakes you up at 5 AM so he can feed you and spend time with you?  He loves you so much.  I worry about him too. 

Then there is your brother and sister.  If something is happening, what am I going to tell them?  How am I going to tell them? 

I hear you waking up in the other room now.  Hannah, I’m so sorry.  You are so beautiful.  Your smile is so intoxicating.  You are my little ladybug.  I’m going to spend the rest of your life just hugging you every minute I can.  I need to clean up my face before picking you up.  I don’t want you to see me sad.  I want you to see how happy you make me and how complete you make me feel.

And now I’m crushed because there is a strong chance that you may never be able to read this.  Oh god baby, I’m so sorry!

Love,

Mommy

Just got back from the Ear, Nose, and Throat specialist.  She had to stick a tube with a camera down Hannah’s nose, while she was wide awake, to check out her structures.  I’ve never heard Hannah scream like that before.  I actually started losing it during the 3-minute procedure, but I didn’t.

Apparently the sound she is making is called “stridor.”  She said Hannah’s structures were normal, but her tone was poor.  She made the diagnosis of laryngomalacia, “very common condition of infancy, in which the soft, immature cartlidge of the upper larynx collapses inward during inhalation, causing airway obstruction.”

However, because of Hannah’s possible diagnoses, the poor tone could also be (and apparently is likely to be) related to whatever condition she has.  We just have to ride it out.  She wants to see Hannah back in late January to reevaluate once we know what her condition is. 

If this laryngomalacia is related to her condition, then it will not improve, and it will only get worse.  We are talking possible breathing tubes and/or feeding tubes in the near future.  

I lost on the drive home from the doctor’s office.  Daddy came out to meet me in the garage when I got home, and I just started bawling.  I still can’t seem to shake it right now as I type.  I don’t know what to do.  I feel like someone is playing a very cruel joke on me.  Hannah is such a beautiful and smiley little girl.  She really just lights up my world.  Why do I feel like she is going to be taken away from me sooner than later?  This fucking sucks.

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.