Finally, a positive meeting.  Keeping in mind that Hannah was born a month early, her adjusted age would be 3 months.  She is basically just a tad behind in everything at the 2-month level except, and get this, socialization!  She is at a 6-month level in that already.  Not surprising though — she smiles, laughs, recognizes certain people with a big grin (especially me), and babbles back and forth.  Whoo hoo — they even called her a “charmer.”  She has a way of capturing people’s hearts, I tell ya!

We decide to just go on a service plan for now and meet next month to see where we are and if we have a diagnosis.  It was difficult because one of the questions was “what would you like to see in 6 months?”  I told them, we are at this huge fork in the road because we have no clue.  If it turns out to be something benign, then we hope to never need their services.  If it turns out to be something devasting like NPC, then we will need a whole host of services, and everything in between.  So, we will wait another month and, hopefully if we have a diagnosis, we can come up with a better game plan.

But I did ask them about other services, and they do have family counselors that we can talk to and to work with us with the other children if the prognosis is not good with Hannah.  That was a huge relief because we may need the help.  They will also help with obtaining SSI (supplemental income) if we get to that point. 

But for now, good news — she is right where she should be (okay, just a tad behind, but at this age, it is good enough for me!)

We have some great neighbors here.  They know my kids really well, and they spend quite a bit of time over at all of their houses.  I don’t really talk much about what is going on with Hannah to anyone around here, except a couple of them.  They know her symptoms, they know the many different doctors appointments we go on, and they know that we are waiting for the skin biopsy results to give us, hopefully, a diagnosis so we can move forward.

All of them tell me that the doctors just need to figure out what is going on so they can get her well.  Or that “it will be something they can fix.”  Each time I hear this, my heart hurts because I really don’t know how to respond except with “I hope so.”  I don’t tell them about NPC or the seriousness of the lysosomal storage diseases that they are currently working Hannah up for. 

What am I suppose to say… I’m already having a difficult time even knowing that this could take her away from me in such a short time if it is what they think.   I’m exhausted, but I was just lying in bed a few minutes ago, just replying those comments in my mind.  Then I start thinking about the worst case scenario and then how do I tell people?  Then I get mad at myself for even thinking worse case scenario because this is my daughter we are talking about.  Then I just start having this fight in my head and then, like just now, I come downstairs to break down and just cry. 

I pray, pray, pray for good news — something treatable, even if it is a lifetime treatment.  I still can’t wrap my head around all of this yet, especially with all of this uncertainty and the “could it be this?”  But then I keep telling myself that if we are going to get bad news, please let it be after Christmas so we can spend a happy Christmas together.  But if it is good news, please tell us before Christmas so we can spend a happy Christmas together.

This is just so not fair.  Hannah is such a beautiful little girl with such a contagious grin and laugh.  Why does she have to go through this?

We have Early Intervention tomorrow morning… in about 8 hours actually.  I am very interested in learning how this will help her, and us, out.

Finally got an email response from Hannah’s genetic doctor’s nurse…
I just checked with the lab. They could give me no indication for concern, so we must assume it’s growing and will be sent for testing at some point in the near future. Unfortunately, they can never say precisely how long that will be.

At least we know it is still growing.

(New post at my daily life blog  – click to read)

Unless we hear something about Hannah’s skin biopsy, which I doubt, the only thing we have going this week is a meeting to come up with a IFSP (individualized family service plan) with Early Intervention.  Two people are coming over on Wednesday morning, and we were told it would last a couple of hours.  Being that she is only 4 months old, I’m really curious to see what they recommend.  However, I do plan to take them up on their posted services about finding support groups for both Daddy and I and for siblings if we need to take advantage of that. 

We pretty much had a complete denial weekend, and honestly, we didn’t talk about her condition much at all during the past few days until later this evening on the way home from dinner.  It was a nice mental break, I guess.  Denial would also be a good word for it.  But it was just nice being a family of five, cleaning the house after the carpet fiasco last week, and starting to get the holiday decorations ready.

I did receive the following email response from our genetics doctor.  His nurse told me about 10 days ago that she would check to make sure the skin biopsy is growing okay, but she has yet to return my messages.  So annoyed with that, and I will try again THIS WEEK and follow up on this.  If for some reason this skin biopsy fails to grow, I want to know as soon as possible, so we can get another one done and get some answers.

Anyway, here is part of his email…
The fibroblasts will be tested at our lab for Gaucher and also sent to the Lysosomal Disease Testing laboratory at XYZ where the cells will be tested for NPC as well as a screening panel for other enzyme deficiencies (a “full” workup).  These tests do not guarantee that we will have a diagnosis after they are performed, but we will have to cross that bridge when we come to it.

On a separate note…

 Hard to believe I was pregnant with Hannah at this time last year but didn’t know it!  Wow, if I knew then what I know now, I would not have believed it.

I posted a bunch of new pictures on facebook of Hannah, Big Boy E, and Little Girl A.  But here is my favorite one of Hannah! I’m still working on fixing my shutterfly account.

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).