We have a lot of firsts this week…

Tuesday, we start with M., the occupational therapist.  She is going to work with us on getting Hannah accepting solid foods (she still has the automatic tongue thrust when we try to feed her), drinking her bottle without having it dribble out of her mouth like a fountain, and help us with anything else she thinks we need to work on. 

Wednesday, Hannah has her Auditory Brainstem Response test (ABR).  That is the sedated hearing test I talked about a few weeks ago.  We have to be there at 8:45 AM, so I’ll probably leave the house at 6:45 AM  just to be safe!  What really sucks is that I’m supposed to “keep her awake all morning” (yeah right!), feed her the last formula bottle at 3 AM (yeah, so she’ll be screaming her head off around 7:00 AM when she is starving), but we can feed her a pedialyte at 7:00 AM (which she has never had before, so I don’t even know if she will take it!).  And if they are sedating her, why does it matter if she stays awake before or not?  Can you tell I’m not looking forward to this?

Oh yeah, and I have a root canal on Thursday morning – oh joy…

I’m so ready to start coming up with fundraising campaigns to get money for research for Hannah.  Being in the midst of this “economic climate,” it is going to be even harder to raise money. 

Even though I feel better that we are still more likely dealing with a type 3 progress of the disease, the bottom line is it still is going to cause her even more neurological decline over the next few years (including a breathing tube and a tracheotomy), and we may still lose her in the next 10 to 20 years if a treatment isn’t found.

So here presents my dilemma…

1.  My definite first choice would be to work with an already active gaucher’s type 2/3 research group and just raise money for them as the infrastructure is already in place.  But I’m still waiting to hear back from the Children’s Gaucher’s Research Fund to see if they are still active in that area, and if so, what is the latest on what is going on. 

2.  Second choice would be to start our own nonprofit and raise money that we can directly give out to researchers who are working on type 2 and type 3.  Main problem would be the “business” end of setting up the nonprofit, maintaining it, etc.  However, it would give us full control over who gets the grant funding.  Being part of a “business” family, this idea doesn’t scare me at all, I’m just not sure how difficult it would be to seek out the medical support needed for this plus find startup money to get this going.  Also time wise, this would become a full time job for me.

If the CGRF isn’t active in the research department anymore, then I have no choice but to do the startup on our own, as I have yet to find any other group that supports type 2 or type 3 research specifically.  The National Gaucher’s Research Fund doesn’t fund type 2 and type 3 research (I wonder if I could change that — 5% of all Gaucher’s patients have type 2 and type 3, shouldn’t they get at least 5% of the funding?).

What to do, what to do…

I can’t believe it…Hubby and I both forgot about Valentine’s day… no cards, nothing… THAT is a first! 

Oh well, maybe next year…

I didn’t sing much while I was pregnant.  But I did sing one song all the time.  Twinkle, twinkle, little star.

Since Hannah was born, she has always given me some kind of reaction (lately a huge smile) every time I sing that song.  I even sang it to her while she was on her third IV attempt, and it calmed her down a bit.  No other song except one other one (I love you, yes I do, won’t you say you love me too) gets a reaction from her.

So I wonder, did she remember me singing that to her while I was pregnant with her or does something about that song just make her happy?

As many of you know, I’m come to know and deeply care about Addi and Cassi Hempel, as I have talked to their mom on the phone on a number of occasions.  She, as an advocate mom, is what I aspire to be for Hannah.   They have Niemann Pick type C, and their mom is fighting so hard to save her daughter’s lives. 

Take a moment to read her latest post, as it just pisses me off to no end why people aren’t willing to be more compassionate and willing to help a stranger save their child’s life!

We are here in Dallas tonight! 

We just got checked in a few hours ago after our meeting with Dr. S., the “world-reknown expert” on Gaucher’s Disease.  Such a nice guy, and his assistant was such a sweetheart.  Since it isn’t a children’s hospital, they don’t see a lot of babies.  So as soon as we checked in, she asked if she could take Hannah around the office to meet everyone.  Hannah loved it.

Dr. S. took our history as well as the info given to us by the other doctors and past test results.  He also did his own neurological exam.

He found the same findings that Dr. E., did last week.  Specifically, the abnormal eye movements.  They are called “saccadic” movements.  Hannah can’t follow items that are rapid.  He explained it great — you know when you are driving and pass a lot of trees and your eyes go from tree to tree?  Her eyes don’t do that.  She just stares straight ahead.  She also hears things and recognizes them (like my voice from across the room), but she can’t seem to find where that voice is most of the time.

The interesting thing is that he gave us the impression that type 2 is a much more distant possibility than Dr. E. thought it was.  He doesn’t know for sure because Hannah is still young.  But his overall impression with her neuro and physical exams were that everything was normal or “on track” except her eye movements.  He even thinks that she isn’t as “delayed” as certain people thing she is (but we are still going to take advantage of Early Intervention).

He tells us that we will have a much better idea if we are dealing with type 2 or type 3 in about 4 months.  If she has type 3, then the Cerezyme treatment will make a noticable difference in her spleen and liver as well as a rise in her platelet count.  Apparently, Cerezyme has very little to no effect on type 2 patients.  So if we see the Cerezyme work in a few months, we can probably rule out type 2!

He also wants Hannah to do another skin biopsy to look for some kind of abnormality in her skin cells.  I don’t know the details, but in type 2 patients, this abnormality shows up on the biopsy.  If she has type 3 (or type 1 for other patients), then this abnormality isn’t present.

We also have to wait for the DNA sequencing to come back.  We’ll forward those results to him.

Another interesting thing he said is that it is impossible for Hannah to have absolutely no enzyme activity, and that the test done must have been done wrong.  He said that having no enzyme is “incompatible with life.”  So where that leaves us with that test, I don’t know.

He wants to see us back in about 6 months, and he is going to work closely with Dr. E. and Dr. B.  He also made himself immediately available if we have any questions or concerns.  You could tell he fell in love with Hannah, as he kept calling her a “beautiful baby” and a “happy baby.”  Of course, Hannah was smitten with him too (and his nurse!) — she loves people.

He said that we are doing everything we should be doing, and he is very happy with what Dr. E. has done so far, and he is very impressed about Dr. B., as I guess most pediatricians aren’t that into finding out what is wrong with their chronically ill patients. 

We do find it interesting that both Dr. E. and Dr. S. had the same physical and neuro exam results, yet feel totally different towards a diagnosis. 

Bottom line…We still don’t know if we are dealing with type 2 or type 3 yet, but we walked away feeling much better.  He seemed pretty secure in feeling that it wasn’t likely type 2, but he couldn’t say for sure until we 1] get the DNA sequencing back and 2] see how she does with the Cerezyme treatment in 3 to 4 months.  We also got the impression that type 1 is not really a possibility anymore, but again, he won’t commit to anything yet.