I had a very informative and positive telephone conversation with Greg Macres, founder of the Children’s Gaucher’s Research Fund (read his son Gregory’s story here).   They are definitely still going full-steam ahead with research and funding, even though the website is out of date.   He seemed very enthusiastic with my ideas for fundraising and exposure, and I expressed my very strong interest in raising money for his research. 

Great news — there is almost a Gaucher’s Disease type 2/3 mouse!   Seems like they need about $100,000 more dollars for this mouse, and if it is successful, then there will be a whole avalanche of researchers willing to work for a treatment/cure for GD2/3.   Very, very exciting stuff.  Instead of having to do hypothetical research, they will be able to test lots of different ideas on the mice to see their responses much quicker, which would mean possibly a quicker treatment for Hannah and the other type 2/3 kids.

I feel so much better also because I can now focus my energy on doing what I want to do, which is raise money and awareness, and leave the business and scientific end to Greg and his group. 

Time to start creating awareness and raise funds!!!  Whoo hoo!!

Please help me and Hannah fund this mouse!

I was never the most organized person in the world.  Time management skills are not one of my talents.  I’ll admit I’m still having a lot of trouble organizing myself and what needs to get done.

I have this absolutely HUGE to-do list in my head — all the way from housework to raising money and research for GD and Hannah to getting my writing off the ground to start trying to bring in an income.   I’m almost afraid to write it down because it would be so long.  

With the exception of a very small handful of people who have already been helping, I am pretty much on my own.  I can’t ask my hubby because he is completely overloaded with his job, especially now that it is our sole income and Hannah’s insurance — especially since we definitely see how Hannah’s Gaucher’s Disease is going to cost a fortune.

Maybe I should just post it here as motivation to start getting things done and knocking them out…maybe not, that might scare the heck out of me…

This was the cost of the Infusion Center, the 3+ hours we were there, as well as the cost of the Cerezyme for Hannah.  Remember, Cerezyme is used based on weight, and Hannah only weighs 16 pounds.   This doesn’t include all her other doctors and procedures — this is JUST her biweekly infusion.

Cerezyme – over $3300
Infusion Center – over $10,800

There are times when I forget that Hannah is sick.  We are so lucky that she acts so healthy and is in no pain.  But then I start thinking about it, and it really gets me down.  I go through periods of feeling optomistic that we are going to dodge the “big bullet” and only have a minor complications from her Gaucher’s Disease.  But then I see those abnormal eye movements, especially when her left eye gets a little stuck a bit when she is trying to focus.  Bam, right back into reality.

Dr. S. said that we are doing everything that we can do and that we should be doing, yet, I feel like I’m not doing enough for her.  I know, I’m doing everything I can, but why can’t there be more for me to do?  Why won’t eye exercises strengthen her muscles even though the neurologic damage has already started taking place?  I know the answer…it isn’t her eye muscles that are the problem. 

It is what it is.  Whatever intensity of Gaucher’s Disease, type 2 or type 3, at this point, me wishing that it was different or pretending that it isn’t there is not going to change what it will inevitably turn out to be. 

I can hope, work, and pray for a treatment to help or even reverse the damage, but I still can’t change that this is our destiny.   Will we be successful in finding a treatment for her in time?  Or are all our efforts going to be an unsuccessful exercise in hope? 

I know in my head that the odds aren’t in our favor right now.  But my heart tells me that Hannah is going to be “different.”  She just has to be.

I’ve been so uneasy about tomorrow’s sedated hearing test since receiving multiple parents of type 2/3 kids sharing their stories via comments here and in emails.  Then, I received this email from Dr. E., Hannah’s lead doctor:

“The sedation should not be a problem. However, the test is not crucial for her management at the moment. We could wait to obtain the ABR at a time when she may need sedation for another test or procedure. If you would like to postpone just let my assistant know.”

I don’t think I wasted more than three minutes after I received that response did I call my husband and have him call to cancel (I was in the car picking up Little Girl A from preschool). 

I feel much, much better…

I received this email from another type 2/3 parent, and obviously, it made me very concerned.
 did read your latest post about Hannah being sedated and wanted to make sure that you check with a gaucher specialist before doing this… I learned the hard way.. my son was sedated for a simple MRI but as soon as the drugs kicked in he started with horrible breathing problems and we just spent hours getting him out of the sedation, no test was able to be done.  Please be careful as to what they give her because if they relax her to much its very dangerous.  Their involuntary reflexes are effected from the brainstem involvement so anything that relaxes that more is risky.  Just a heads up to be extra careful.

Thank goodness she emailed me!  I ended up asking both Dr. S. and Dr. E. about this, and here were their responses:
Dr. S.:  I don’t know. Sedation always must be done carefully and for a good reason.
Dr. E.: The ABR is a shorter test than an MRI and lighter sedation is used.  There is careful monitoring.  Has Hannah been sedated for any procedures thus far?

Hannah never has been sedated before, so now I’m paranoid about tomorrow’s ABR test…