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.

We had Hannah’s 6th Cerezyme treatment today.  It was a bit rougher than usual because it took two attempts at an IV.  After the first attempt, she was bleeding like crazy.  Of course, my first thought was “damn, her platelets must not be up yet…is it not working?”  She was very restless during the first 45 minutes or so of the treatment.  Her BPMs were in the 150s for that entire time.  Finally, she fell asleep, and her pulse became more normal.

We were told today that they are going to test Hannah’s 3-month response to the Cerezyme at the next treatment (May 4) with some bloodwork to be sent out.  I was told not to expect anything big, but that they just want to see a trend of starting downward.  Those tests will take a few days and up to a month for part of the results.

I hope, hope, hope this is working.   If anything, just to continue to make Hannah comfortable physically. 

I wish, wish, wish it would fix the neurological aspects of this friggin’ disease, but I’ll take what I can get right now.  But I’m dead-set determined to find SOMETHING that will give Hannah a full life, or if not, a longer and better quality of life once the disease progresses!  I keep finding bits and pieces of people working on different things, some directly for GD23 and some not, and I just wish I had a way of putting them all together and see what pieces can fit together.

Since I have so many visitors that want to follow Hannah’s journey with us but aren’t into the “blogging” thing since I do tend to post A LOT, I created an “update” page (you can also see it in red on the right as well as on the dropdown menu under “Meet Hannah”).  I’ll be updating this page every few weeks so you can just bookmark that page to get the latest on everything going on in one place.  Hope this helps!

You can get email notification of these updates by going here.

Where we are at now…
(as of 4/19/2009)

Hannah’s Health
Hannah just recently had her almost 9-month checkup, and things seem pretty stable right now for the past month, yay!  Her abnormal eye movements (lack of saccadic movements, supranuclear gaze palsy, etc.) do not seem to have gotten worse, or she has found a way to adjust to this situation.  She is still growing like a weed, and she is 18 lb 7 oz and 27 inches long.

Developmentally, she is still testing delayed in physical (testing at 4 months of lage), adaptive behavior (testing at 5 months of age), and communication (testing at 6 months of age).  Not surprisingly, she is testing at the 8-month level for cognitive ability and at the 11-month level for socio-emotional behaviors.  

She does have some feeding issues where she does not know how to use her tongue to eat solids (which is a neurological feature of her disease), which has caused some feeding issues.  So, we are going to be meeting with a speech therapist to see if she can evaluate Hannah and work with us on teaching her how to use her tongue correctly to eat.

She had a swallow study last week (where we found out about the tongue issue).  We were worried about swallowing difficulties because that is one of the next symptoms we are to look for.  Fortunately, her swallow study came back normal, and we were able to prove that she is swallowing correctly and not aspirating fluid or food into her airway!

She does have fluid in her ears (clear, not infected), so we have to go back and see her ENT doctor.  Just like her sister!  (However, if we have to go the ear-tube route, we have a major obstacle to deal with – sedation).

Disease Update
We received the DNA sequencing back, and surprise, surprise!  In the entire registry of Gaucher’s Disease (over 6600 patients of which 95% are type 1), there has never been her combination of Gaucher’s mutation before!  There is nothing in the literature about this combination (84gg, the most severe type 1 — D409H, one of the most severe type 3), so they have no idea what to expect.  So at this point, we still don’t know if it is type 2 or type 3, because as I was told, this doesn’t automatically make it type 3 because “just like mixing mayo and mustard, you create a whole new type of mix, not two separate flavors.”

Upcoming
Hannah has a neuroopthalmology appointment next week along with her bi-weekly Cerezyme treatments (which she handles like a pro!).  We are now 2-1/2 months into her Cerezyme treatments, so hopefully within the next 6 to 8 months, we can get an official update from her genetics doctor as to whether or not the Cerezyme treatment is affecting her Gaucher’s Disease.

She has developmental therapy once a week with Early Childhood Intervention and occupational therapy every other week.  Speech therapy is also going to be thrown into the mix very soon.

We are in talks with the National Institute of Health to have them sponsor us for a visit their facility next month (they cover all expenses).  Since they have never seen this combination before, they are interested in evaluating Hannah in hopes of learning more about this disease and hopefully find a treatment.  It is exciting in the fact that these are the absolute experts in this disease. 

Treatment or Cure?
Unfortunately, nothing even close yet.  I’m still scouring all the latest news regarding companies working on various aspects of this disease, and I have about 6 or 7 leads.  But nothing that will have anything available within the next year or so.  All these people that are working on GD2 and GD3 need money. 

There has been a definite link established between Gaucher’s Disease and Parkinson’s disease, so I want to learn more about this in hopes of securing funding to explore this more.

How we are doing?
We are doing good.  Stressed, tired, and overwhelmed.  But we have a sense of the ability to slow down just a bit since the results of the swallow study knowing that the disease hasn’t progressed to her swallowing yet. 

We need money though.  We need money for research to save her.  There are scientists out there “on hold” or going on a “slow pace” because there is no money for their projects, and that just kills me!!!   There has GOT to be a way to raise money for this!!!  My first goal was to raise $10,000 by Hannah’s first birthday (July 25th), and we are only 1/3 of the way there. 

We eventually need BIGGER money, but all those who have donated $10, $25, $100, etc., THANK YOU!  I definitely adds up!!  If you can help us by hosting a fundraiser in your area (Chic-Fil-A did a very successful one for us, plus we had good friends ask for donations for Hannah’s fight instead of gifts for their son).  We really need all the help we can get

• Cognitive Age Equivalent – 8 months
  (at 4-month assessment, she was assessed at 4-month level
• Communication Age Equivalent – 6 months
  (at 4-month assessment, she was assessed at 2-month level)
• Social-Emotional Age Equivalent – 11 months
  (at 4-month assessment, she was assessed at 6-month level)
• Physical Age Equivalent – 4 months
  (at 4-month assessment, she was assessed at 2-month level)
• Adaptive Behavior Age Equivalent – 5 months
  (at 4-month assessment, she was assessed at 2-month level)

As you can sort of see (my scanner doesn’t work so I can’t scan the graph), but she is following her own development chart.  So she may be behind, but she is still moving along!