Archives for November 2008

We had a quiet Thanksgiving at home this year.  We didn’t want to travel with Hannah being only 4 months old, so it was just our family.  Daddy cooked an awesome dinner, right down to my yams made the way my mom does.  Even Hannah sat with us in her new highchair, even though it dwarfed her and she is no where near sitting on her own yet (it leans back so she was fine).  It was nice.  We talked to the kids and asked them what they were thankful for.  Each of them, of course, had Hannah on their list.  Then she was sitting there trying to grab at her toy on the tray.   It was like for a few minutes time stood still and I forgot she was sick.  Then, when they both mentioned Hannah, for some reason, it tore at me. 

I want the diagnosis to be proven not to be NPC or something else that is fatal.  Even though she is only 4 months old now, Hannah has become such an integral part of our family.  Kind of like the piece that was missing to make our family complete.  

Daddy and I forget sometimes she is sick.  We do things as life goes on, play with the kids, and just forget.  Then someone makes a comment, usually one of the kids, and it just hits me again.  Example…we were talking about how Little Girl A was going to start elementary school with Big Boy E next year.  She will be in kindergarten and he will be in third grade.  Then, Big Boy E said to Little Girl A, “When you are in third grade, Hannah will be in kindergarten with you!”  Daddy and I just looked at it other, and it was all I could do to hold it together.  Slapped back into reality.  We just go along with it, but it eats at me knowing that it could possibly not be the case.  Then I go back to “will she even be with us then?  If she is with us, what will her condition be?”

I like the times we can just “be” as a family without this hanging over our head.  I want a miracle, I need a miracle.  Being able to even just conceive Hannah, let alone bring her into this world, is just an absolute miracle after all we have been through.  It is almost like this is a cruel joke being played on us.  Almost like — ha, ha.  Three miscarriages and years of infertility treatments, heartbreak, and grieving for the biological child you couldn’t have weren’t enough for you.  Let me really mess around with you. 

It has to be something else… there just has to be another diagnosis, something treatable, as long as it keeps her happy and gives her a long, independant, and happy life.

My pity party from yesterday morning is over.  I guess I need a good cry and lashing out every once in awhile, because I’m back to feeling motivated and ready to kick ass against whatever is going on with Hannah.

There are so many things I need right now to deal with this, and it is hard finding what I need…mostly answers.  But here they are…

1.  Alternatives to NPC and Gaucher’s.  Even though two are the ones we are waiting testing on, what if these come back negative?  I’ve tried twice to get alternative possibilities from our genetics doctor, and he has yet to give me anything.  I realize that if I know what the alternatives could be, then I could focus less and stop dwelling as much on NPC, you know?  What else could it be?

2.  If Gaucher’s is unlikely, why is it still on the table?   I understand from the Gaucher’s specialist that I emailed that her 50% to 55% enzyme level activity is too high for it to be Gaucher’s disease, but could Hannah be a fluke?   Or is just testing it to rule it out along with the NPC test a “just to do it” thing and I shouldn’t get my hopes up (isn’t it sad that I would prefer gaucher’s disease over NPC?)

3.  Finding a support group.  Damn, it is so hard trying to find a support group around here for parents (and even siblings) of chronically or terminally ill children, doesn’t have to be disease specific.  Even online.  I’ve met some WONDERFUL parents of kids with NPC recently, and they have been a godsend.  Truly have.  Just being able to talk about it, hear their stories, just be able to reach out to someone who understands.   I’ve sent emails to the Ronald McDonald house out here, and I’m going to call TCH downtown next week to see if they have anything. 

4.  Coming up with a fighting game plan.  Once we get the diagnosis for Hannah, and if it turns out to be NPC, Gaucher’s, or something else life-threatening, I want to start fighting right out of the gate, as you already know.  But coming up with a solid plan is so difficult.  I have so many ideas, but where do I start? 

This is just the beginning…there are so many more, but I just looked at the clock and realized I have to jump in the shower for Big Boy E’s Thanksgiving party at school.  See, that is another thing.  What do I say when people ask “how is the baby?”  Most people here don’t know what is going on with her.  How do I respond?

But life is still going…off to put my son, my second grader, in the spotlight now.  It is hard when I am so consumed with Hannah lately, but Daddy and I are going to really start making a conscious effort to focus more attention on the other kids as well.  (Yep, we had a big talk about that last night).

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!