One Year Ago …

Our world changed exactly one year ago today….

We have a diagnosis!

OMG, I’m shaking as I type this. I just got a call from our genetic doctor’s nurse. “We have a diagnosis” is how she started the conversation. It is official. She has Gaucher’s disease! Even though Gaucher’s is still a rare and serious condition, there is hope and treatment! We don’t know what subtype of Gaucher’s it is yet, but the fact that it COULD be type 1 (type 2 and type 3 are life-limiting), which will give her a normal life span, OMG, there is hope!!!!!

Our genetics doctor wants to see us this afternoon, so I have to take off now. I’ll update more when I get back tonight!!!

(later that afternoon)

I’ve got so much information going around in my brain right now that I know I’m going to put something wrong here, so bear with me. We met with Hannah’s genetics doctor this afternoon, and he believes that Hannah has, most likely, Gaucher’s type 3 (life expectancy late teens to early adulthood). This is based on “his research” and the fact that her symptoms presented at birth, which is extremely unusual. It would be more likely Type 2 (life expectancy 2 years) because of the onset of symptoms, but because she isn’t showing any neurological signs and she is almost 6 months, he feels that type 3 is most likely. He doesn’t believe it is type 1, but he cannot say for sure. Basically, this is such a rare condition that this hospital (one of the top 10 in the country) only has 4 patients with it.

There is a treatment, Cerezyme, which will deal with the physical aspects of Gaucher’s disease. We are looking into getting it started. However, preliminary research for this shows this treatment to be about $10,000 a treatment — treatment is every 2 weeks via IV — that’s over $200,000 a year. I have NO CLUE what our insurance will cover. Obviously, this is one of the top things I”m going to look into now that we know what we are dealing with. I mean, they aren’t going to NOT treat her, are they?

There was also talk about a bone marrow transplant, but I forgot how that fit into the scope of things. More research.

We still have to “wait and see” on the neurological symptoms (which separate type 1 and 2/3). If she shows any neuro signs like more significant developmental delays, eye movement problems, seizures, etc., then that means it is definitely type 3 and it is progressing. The developmental delays she has now he won’t attribute to a “neurological problem” at this point because 1] she is so young and not that delayed, and 2] she was one month premature.

I’m going to be sharing a LOT of stuff over the next few weeks about what I learn, be forewarned.

Gaucher’s disease, type 3, gives Hannah 15, 20 years or so with us. But you know what, we can handle that. A LOT of advances can be made in just a few years. Hannah will be at the forefront of those advances, if I have any part of it. Which I plan to (and am recruiting a lot of people to help once I figure it out!). If she does indeed have type 3, and she develops neurological problems, then we will do whatever it takes to keep her a happy baby and make her comfortable. I’m not scared of having a special needs child, especially when she has a smile that warms your heart like Hannah’s does.

Thank you for all your prayers and good thoughts. Please keep them coming. We have a wild ride ahead of us, and we could use all the support and helpful ideas we can get! (Especially with dealing with insurance companies!)

Hannah’s 2nd Happy Holiday!

One of the gift’s of keeping a journal like this is being able to go back in time and see what you were thinking and feeling like at Hannah’s first Christmas.

There were just a few times during the past few days that I think about what we have in store for us in the next few weeks. It scares me to death. I just have absolutely no clue what to expect. No clue what direction we will be going in. Argh!! Just thinking about it now is pissing me off.

At that time, the leading diagnosis possibility was Niemann Pick type C, but we really had no clue what we were dealing with or what we would be in store for.   Heck, we weren’t even sure, given the list of their leading possibilities, that Hannah would even have a second Christmas!  Wow, how far we have come in one year — not only is she still here, she is doing really well despite her challenges!

Santa and Hannah’s grandparents bought Hannah lots of great toys including a toy piano, Fisher Price Learn and Grow farm,  ride-on-me Mickey Mouse, some soft blocks and soft balls/rings, and more.   Even though she couldn’t open the toys on her own, her big brother and big sister loved helping her out.

It was a great, great day.  Last year, I couldn’t enjoy the day because of the “unknown.”  I do admit now that now that I know, it was much easier to enjoy the day!

Here are some pictures…

Great Birthday Celebration!

We had Hannah’s birthday party on Sunday, and it was a huge success.  Everything went just as I had hoped!

We ended up with about 50 friends and their kids, probably about 20 kids ranging in age from 11 months to 11 years old.  We had old friends from New Orleans come visit as well as friends who drove from Dallas and New Braunfels just to help celebrate Hannah’s day.  It meant so much to us to have our friends and neighbors spent an afternoon with us celebrating a milestone I truly thought we would never see.   Even our pediatrician whom we just adore celebrated with us.

Not surprisingly, Hannah really had little interest in eating any cake.  She did play with it after a while though!  We had rented a bouncer and snow cone machine for the backyard, and that was a huge hit.  I don’t think I ever saw less than 5 kids in that thing, many times more!  We had also sent up an art center with a few projects in the living room for those kids who didn’t want to be outside in the heat and humidity, and many kids enjoyed that too.   It was just a lot of fun.

I have pictures that have yet to be unloaded yet, and our friend Misti, a photographer, took a lot of pictures for us, which I can’t wait to see. 

For me, it really was a celebration of such a long year.  Hannah made it.  She made it to her first birthday, and she did it smiling and happy.  I couldn’t ask for anything more!  Having our friends be there to celebrate this milestone (and those who couldn’t make it but sent cards and emails and phone calls)  just warmed my heart because it showed me that Hannah really does have so many people that care about her.  

Sometimes my hubby and I feel quite alone in this fight, but after this weekend, I know we aren’t alone.   It is a great feeling.

Happy FIRST birthday, Hannah!!!

My Dearest Hannah,

Happy Birthday to you, my beautiful and courageous girl.

This time last year, you were just making your way into this world, changing my life forever, in ways that I could have never imagined.   Just looking at this picture of you resting after your delivery, right after your delivery, I see so many much.

 You were given insurmountable odds to overcome.  It just isn’t fair that someone so wonderful, precious, and charming should have to fight every day to stay alive.   I wish I could take away this horrible disease from you.

I fear every day of losing you.  I wish I could say that I don’t think about it often, but I do.  It is almost always in the forefront of my mind.  I want so much to protect you, to help you heal, to save you.

I promise you that I will do whatever I can to keep you with us, comfortable and happy, for as long as I can.  You have made such an impact in our family in just the short year you have been with us, and I can’t imagine life without you now.

There were many, many times that we weren’t sure if we would be able to celebrate your first birthday, but here we are today.  A milestone that every parent loves to see, but for me, it is almost like winning a battle in this war.  YOU MADE IT!   YOU did it!  I am so proud of you.

Every time I look into your eyes and you smile, my heart just melts.  The love that you show me, your brother, your sister, and your daddy is the biggest gift in the world.  You share that gift so often with us.

There is so much more I want to say to you today, this day, but the circumstances just don’t allow for it..  When we get back home, back to our routine, then I can really express everything I have been feeling.

Next weekend, we are going to have you big birthday party, with many of your friends, your supporters, and those that love you.  We want everyone to celebrate this huge victory with us.

I love you baby girl, my baby girl.   Happy Birthday, Hannah.

Four days and counting…”the video”

I’ve watched this video dozens of times.  I know many of you that have been joining us on this journey have seen it as well, most likely.

This was taken when Hannah was 4-1/2 months old, before we even had a diagnosis.   We have no idea what set her off, but she was laughing like this for over two minutes!

As I was watching it tonight to post on here, I realized that Hannah doesn’t laugh like this anymore.  It is not that she isn’t happy, it is just that she doesn’t have any more belly laughs like this anymore.  My guess it is related to the vocal cord paresis.  I’m glad that I have this video.  I’m just very sad that I may not hear this laugh from her again.

Five days and counting…

I think after such a whirlwind week at the NIH, I feel like I have totally crashed since being home. 

Hannah has spent today completely attached to me.  No, I didn’t mind.  I realized as she fell asleep on me during the day that we haven’t had this type of day in a couple of months since Abigail was still in preschool back in early June.  I missed that quiet time with her.  Of course, I didn’t expect her to be so clingy though.  I think she must have been feeling the same way that I had been.  I actually ended up sleeping with her, cuddled on the couch, during her first nap today.

Right now, it is almost 10 pm, and it is past her bedtime.  For whatever reason, she is fighting sleep tonight big time.  She is so tired, but she is laying on daddy, giving me such a huge grin through her pacifier.

She turns ONE in just five short days.  My baby is almost ONE!

Houston, we have a tooth!

Yes, I know I was worried about Hannah getting her teeth in.

But you know what has now popped through her lower middle gum?  Yep!  We have the top ridge of a tooth!  OMG, I was jumping up and down with joy today when I saw that.  I know, it was silly. 

Even better, the other side of her front lower middle gum has the little white ridge trying to break through.

She is getting teeth!  Whoo hoo!  Another milestone she has hit!!!!   (I tried getting a picture, but it didn’t work…yet!)

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