Archives for April 2009

I don’t know what is wrong with me.   I’m feeling very defeated and am worried tremendously about Hannah, specifically losing her.   I have no idea what set it off either.  

Today was a positive day.  Had a great, great conversation with two of the directors of the National Gaucher Foundation PLUS finding out they gave us a full-page share in their quarterly newsletter (click here, page 17).  Made some wonderful connections in the Tay-Sachs community.  Got a positive response from someone I was hoping, hoping would be able to help me understand what research is going on even though she is incredibly busy.  Found a couple GD2 and GD3 parents who are very willing to get more involved and “fight” with me.  Gosh, even more positive responses to emails I have sent out…many people willing to share their expertise to help me understand.

I just got this overwhelming feeling today that it may not be enough.  That no matter what I do, I’m not going to be able to save her, and I am going to lose her.  I haven’t felt like this in a long time, but I just feel like everything that is out there is just not going to be ready in time for Hannah.  That the treatment or cure will come after it is too late for us, for our family, for our little girl.  That because of our personal financial crisis as well as this so-called “recession,” there won’t be enough money to give Hannah everything she needs to keep fighting (especially if we have to come up with out-of-pocket money for additional therapy services) or money to give researchers who are working specifically on GD2 and GD3 research and treatments.

I watched Chuck tonight, and there was a scene where Chuck’s sister was getting married and being walked down the aisle with Chuck and their dad.  All I could think about was Hannah possibly never getting a chance to get married and have Daddy walk her down the aisle.  Would she even be here for her sister’s wedding or her brother’s?  

I watched that episode with Hannah cradled in my arms, asleep.  I just kept stroking her hair, giving her kisses on the top of her head.  I kept telling her that I love her.  I gave myself until the end of the episode before putting her into her bed.  I don’t know what came over me today (through tonight), but I don’t want to let her go. 

Tomorrow we have her NeuroOpthalmology appointment to see how much damage her Gaucher’s Disease has actually done to her eyes.  Another reality check.  Finding out the damage that will never be able to be repaired.  Finding out her limitations as of today and understand what limitations she may have in the future.

I don’t want to ask “Why Hannah?”   I don’t want to hear that “God has a plan.”  I just wish that she could just be a normal baby girl, and we could live a normal life.

After receiving Hannah’s 8-month DAYC assessment, our pediatrician recommended adding some private therapy to Hannah’s regimen.  Our goal is to teach Hannah as much as we can now so it will take longer for her to lose what she knows once the disease progresses.  Also, since she is somewhat delayed in some important areas, it is important for us to keep working on getting her as caught up as she can.

He set us up with TCH’s therapy department, and fortunately, they have a clinic up here in The Woodlands so we don’t have to drive downtown.  We have three separate evaluations, one in May, and two in June – for PT (physical therapy), OT (occupational therapy), and ST (speech therapy).  Once we meet with them, they will give us their recommendations as to what they suggest, and we will work with our pediatrician to come up with a balance between the private therapy and ECI.

I have to talk to the TCH therapy department this week, however, to find out how our insurance covers this type of service.  Our bills for our bi-weekly Cerezyme have been coming in, and our part averages about $580 every two weeks (the bill originally is about $15,000 every two weeks).  It is killing us.  I just hope the therapy is covered more fully.

Dearest Hannah,

What an amazing milestone we have achieved.  Today, you are 9 months old. 

I took advantage of cuddling with you yesterday afternoon.  No one was home but you and me.  We just lied on the couch, you cuddled up against my side.  You played with my hand, my necklace, and my arm.  You just stared into my eyes at times, and I could feel the love and bond between us.   It is like nothing else in the world exists – no medical issues, no chaos…it is just you and me, together.  No video, no picture, nothing can really capture these precious moments between us.  Just you and me.  Then, you started drifting off to sleep, caressing my arm so softly as you were dozing off.  Then, right before you fall asleep, you give me the sweetest little grin.  I melt.

You have me not only wrapped around your finger, but you have my heart entangled with yours.   I love watching you sleep.  You look so peaceful.  Even moreso, I love it when you wake up and see me for the first time.  Wow!  Such a huge grin.  It is almost as if I feel like I’m exactly what you wanted to see when you finally do see me. 

We are still fighting for you, my little girl.  Rest assured I am leaving no stone unturned in my quest to do whatever I can to save your life.  I am determined to make you “different,”  not a victim of this disease, but the child who will survive this disease and live a happy life.   A child pioneer who will help lead other children affected with this horrific disease to also be able to live happily and share their love with their families.  

Your health is doing much better than we were told to expect at this point.  Most people don’t even notice that you are sick with this crappy disease when they meet you.  To everyone else, you just a very happy and smiling baby girl.  I am not naive to know that the disease has already started affecting you to some extent.  We do have some delays to work on, but at this point, they are just “the way it is” and you are learning at your own pace.  I love the freedom your body is still allowing you to have at this age and that this disease has not progressed enough to start slowing you down.  You are so much more of a fighter than I ever have been!

Though I pretend to be jealous, I just love how your brother and sister can make you laugh more often and harder than I ever could.   Seriously, you just see one of them smile at you, and you get so excited that I can feel your body jump up and down!  They are obviously your favorite toy because you can’t seem to get enough of their attention.  Fortunately, they love giving you every bit of that attention as well.

You have so fully integrated in our lives now that I just don’t even want to think about our lives without you.  You have already make a permanent mark in our hearts, moreso than I thought was possible in just 9 months.  9 months, and my life has completely changed.  Wow…

I promise to keep fighting for you, and you have to promise to keep fighting for you too.  I will talk to every specialist, every researcher, and every person even associated with this type of disease if that is what it takes to find the pieces of the puzzle that, when finally put together, will give us some peace in our lives knowing that the threat of losing you will be gone. 

That is my wish… Just to be able to live with you, your brother, your sister, and your daddy without worrying that you will be taken away from us so soon. 

I love you, my dearest little Hannah. 

Mommy

In the past month, I have been contacted by three families of children who have recently been diagnosed with Gaucher’s Disease type 2, the fast progressive form.  It breaks my heart that there are more babies even a bit younger than Hannah is now going through this hellish disease.  

There is one family that I have come to know over the past few months who has a son just under 2 years old.  He is just a gorgeous little boy!  Unfortunately, they had recently retyped his classification from type 3 to type 2 due to an updated DNA sequencing, I understand.  After talking to his dad, I was friggin’ PISSED OFF that this was possible!  Type 2 only has a life expectancy of “up to” 2 years old!  This baby boy was already almost there.  I spent that entire afternoon angry and doing whatever I could to find information on researching or just anything.

There is so little out there research wise for our kids.  It sucks.  There has to be a way to change this.  I will FIND a way to change this. 

We still don’t know if Hannah has type 2 or type 3.  Last we were told by Dr. Schiffmann, Hannah’s neuro, that it looked like it could be a “slow type 2” or a “severe type 3.”  She is the “unknown” Gaucher’s baby.

Please keep these families in your thoughts and prayers.