Archives for February 2009

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.

I’m getting very frustrated…

As all of you that follow our journey regularly know, I am extremely gung-ho on trying to work to find a treatment for Hannah.  I’ll be damned if I don’t do everything in my power to try and save her life!  Admittedly, I can be a bit TOO gung-ho at times and may come up with ridiculous ideas sometimes, but I know in my heart I am doing it for the right reasons.

I don’t know the politics of the reasoning behind it, but the National Gaucher’s Foundation focuses their resarch primarily on type 1 and not on Gaucher’s Disease type 2 or type 3.  Perhaps it has to do with the fact that 95% of the people that have Gaucher’s Disease are type 1.   I really don’t know, and I haven’t really approached them as to why (although I do have a line of communication open with one of the directors who has been extremely supportive and is willing to talk to me next week about it).  So, my beef really isn’t with them.

There is the wonderful organization called the Children’s Gaucher’s Research Fund.  It was started over 10 years ago by a family who lost their son to Gaucher’s Disease, and they focus solely on type 2 and type 3.  I was referred to them by the National Gaucher Foundation.  This father has done amazing work, and I am in awe of what he accomplished in his son’s memory.  But, I have been trying to figure out if they are still a very active organization or if they aren’t really that active anymore. 

I’m so ready to start fundraising and creating awareness, but I can’t ask for money from people for research until I know that research is still being done, and if so, what specifically are we shooting for?  I have HUGE ideas in my head, many of you already know that.  I just hate the fact that I can’t get started.  It’s been over a week or so since I heard from the guy who runs it, and I am sure he is extremely busy, but I need to get started on this.  I feel like I’m already wasting time that could be used to try and save Hannah and the other kids with type 2 or type 3.  And if they are no longer very active, then I want to know so I can start my own foundation so that we can get money to researchers who have already been working on finding treatments for type 2 or type 3.

I hate sitting around not being able to do anything.  I know a few of you have asked about a fundraising button on the side, and as soon as I can find out exactly what is being done, then I’ll feel more comfortable asking for donations for research (as for our personal financial situation, that is taking a far back seat to getting money to researchers)!

I hope to hear back from somebody soon, as I’d rather focus on fundraising and awareness for an existing, already active group who has scientists and researchers in place.  I’m ready to kick some Gaucher’s Disease you-know-what!  I feel like yelling “I’m here!  I’m ready to raise money and create awareness!  Use me!  Abuse me!  Let me help!!”

We had our developmental therapy session with J. today, and Hannah was just not in the mood to participate!  She was so exhausted, which I have noticed quite a bit since the Cerezyme infusion on Monday.  As a matter of fact, she fell asleep not 5 minutes after J. left — out like a light!   She agreed to do what Dr. E. and Dr. B. (genetics doc and pediatrician) requested, which is to reevaluate her progress every 2 months instead of every 6 months to see where she is on “her” curve, which we know we started about two months behind.  Hopefully we stay on that curve!

VERY cool thing though, Hannah is learning to balance herself sitting upright!  She was actually able to sit in a sitting position, big belly and all, for quite a few seconds at a time with just some mild bracing from me to bring her back to position.  You can feel her trying to balance herself.  Very proud mommy here!   She doesn’t try to balance herself with her hands yet, but J. showed me some suggestions on how to get her to think about doing that.

We are heading up to Dallas tomorrow morning, first thing, to meet with Dr. S., the Gaucher’s type 2/3 specialist.  I’m very anxious, excited, and nervous.  I really hope we can get some answers, and I hope we don’t leave there knowing nothing more than we already know.  I confirmed that Dr. S.’s office has her medical records from all her doctors (except her pediatrician, but those are just basics).  We were told to plan to meet with him for about 90 minutes.  I have a lot of questions, but I better make sure everything is written down so I don’t forget!  

Since Dallas is almost 4 hours away, we are making this a family road trip and are taking Big Boy E and Little Girl A out of school for it.  In order to make it less about Hannah’s appointment (which for me and my hubby it is definitely about), we are going to spend the night up there and spend the day at the Dallas zoo on Friday.  Kind of like a mini-vacation.  This way, the older kids will focus less on the doctor’s visit and more on the fun. 

I’ll be bringing my laptop, so I will try and get a post out tomorrow night after we are settled into our hotel and update everyone on what happened (I’ll also facebook/twitter updates as I can before then)!

My little girl is such a champ!  We got to the Infusion Center at 10:00 AM.  She had to get bloodwork drawn for baseline labs, and that took about an hour.  She had to go through three nurses and three IV attempts before she finally got her blood drawn and her IV set up for her infusion.   We had the Wiggles DVD going on (as we can bring DVDs for her), and it was a great diversion for her.

They originally needed 24 CCs of blood for this lab work, but the nurse who did the successful draw said “no way, she’s too little.”  Apparently there are guidelines about how much blood they can draw based on weight.  The chart said no more than 17 CCs, so 17 CCs it was.  Thank goodness this nurse had the foresight to know this (as the first two didn’t mention it when they were trying).

Once the IV was placed, the rest was easy.  Thank goodness Hannah had no reactions!  The infusion lasted over 2 hours, and then we had to wait 30 minutes afterwards just to make sure she was okay.  Hannah watched her Wiggles DVD for about 10 minutes, but they she got tired and fell asleep.  She slept through the entire infusion.  I actually had to wake her up during the 30-minute watch period because I wanted to make sure she ate while we were there, “just in case.”

While she was sleeping, I just sat there with her, stroking her hair, and listening to other families in the other beds.  There are about 8 beds and most of them were full.  I kept thinking about all these kids in there, and it was a reality check that there are so many other kids going through different things in life.