Archives for April 2009

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!

We met with the pediatrician yesterday to do a recheck of Hannah’s ears.  She had some serous (clear) fluid in one ear about 10 days ago, and he wanted to check the status of that.

It turns out she now has this clear fluid in both middle ears now.  So, he wants us to go back to the ENT doctor that we saw for her laryngomalacia to now check her ears and follow through with that.  Of course, this is most likely NOT related to Gaucher’s, but it is probably just a normal “kid” thing. 

She wants to be just like Abigail, who is probably going on to her third tube surgery.  We meet with HER ENT doctor next week to see where we proceed for her.  Apparently her ears are a mess with all that fluid, and her tubes are no longer functional.  They are surprised that she is still having these issues at the age of 5, but her allergy testing came back normal.

Hannah will be 9 months old in a bit over a week.  As a naked baby, she weighs 18 lbs 7 ounces and is 27 inches tall.  She definitely went through a growth spurt height-wise during the past couple of months, as she added 2 inches in just a couple of months!!  No failure-t0-thrive issues here.  We also are completely caught up finally with her immunizations now.