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. 

• I finally told one of my neighbor friends the truth about what is going on.  I didn’t candy coat it, and I hated the fact I broke down for a couple of minutes.  Of course, it was right when Boy Boy E walked up, and I didn’t see him.  She was so sweet, and she offered any help we need.  (She took care of Big Boy E and Little Girl A when I was admitted to deliver Hannah, and they spent the night there.)  
• Tot Shabbat on Friday night.  Since we are new to this temple, we introduced ourselves to the Rabbi.  I had emailed him a couple of weeks ago to see if he knew of anyone else with Gaucher’s Disease (since type 1 is predominantly Jewish), and he didn’t.  He asked quite a few questions on what we are dealing with.  It was all I could do not to break down, but I did it matter of factly.  My hubby says I painted too negative of a picture, but isn’t that what we are dealing with?
• Last night, hubby and I had a “date night.”  Our next-door-neighbor, who we just adore, came over to watch all three kids.  We left at 6 PM.  The plan was to go see a non-kid movie and then go out for a grown-up dinner.  We ended up seeing “He’s Not All That Into You.”  I loved the movie!  Total chick flick.  We called to check in after the movie (about 9:30 PM) only to find out that Little Girl A developed a slight fever and fell asleep at 6:30 PM (she seemed fine when we left!), and Hannah had been crying non-stop since we left.  She wouldn’t even take her 8 PM bottle.  Even though our neighbor felt bad to tell us (she wanted us to enjoy our night out since she was fine with everything), we decided to come home anyway.  The thought of having Hannah crying for over 3 hours and not take her bottled plus the fact that Little Girl A was sick, well, we wouldn’t have enjoyed dinner that much anyway once we knew!  But you know, even just a movie with the two of us was nice — I miss holding hands with him alone!
• Festival of Trees today at the temple.  It was a fun event, and I’m glad we went.  No talk of anything negative.  Just a simple seder service, some children’s activities, BBQ lunch, and Hannah was held most of the time so she could take it all in.  I posted some pics from today on facebook, so be sure to check them out.

This week is a HUGE week for us.  Hannah starts her Cerezyme treatment tomorrow morning at 10 AM CT time.  If you have twitter, I’ll twitter updates as I can, as I’m not bringing my laptop (even though there is Wi-Fi, I want to see how it goes first).   I’ll be sure to post an update sometime tomorrow night if you don’t.

We also meet with Dr. S., the Gaucher’s type 3 specialist, up in Dallas on Thursday.  Hopefully we will get a lot of answers and a lot of information.

I’m so nervous about tomorrow….

We met with Dr. B. this morning for our monthly followup.  I emailed him an update last night so he could have it printed out in his records and so I wouldn’t have to talk about all the details again. 

Few issues:

1.  Abnormal eye movements.  He did notice some abnormal eye movements from Hannah, especially looking upward.  However, he said that if he didn’t know she had Gaucher’s disease that he would have just suspected this was part of her delays and would have waited to see if it improved or got worse.  Obviously, with this diagnosis of type 2 or type 3, it changes things and is definitely something to be monitored. He does think that she has an element of neck stiffness, so he wants us to work on torticollis exercises.

2.  Eating issues.  He is actually more concerned that Hannah is having trouble with solids and that her tongue thrust is still so strong.  He definitely wants OT (occupational therapy) to monitor this and work on this because swallowing issues are a HUGE concern with GD (even Dr. E. yesterday overly stressed this to us). 

3.  Developmental delays.  He is concerned that she may be falling lower off her curve in terms of development, so he told me to ask ECI (early intervention) to do 2-month developmental progress reports instead of 6 months and to give him the results.  He was concerned that she wasn’t transferring items between her hands yet, but she does hold items in both hands.  Obviously, we are delayed in the rolling over aspects, and she isn’t sitting up on her own yet (but that may be because of her big belly).  I talked to J at ECI this morning, and she is going to come weekly instead of every two weeks for her developmental therapy.  Dr. B. did stress that there may come a point in the near future that he may feel that she needs more than ECI can give in terms of therapy, and he has a list of people that he would recommend.  Obviously, as a parent, we will follow his recommendation.

4.  Spleen and liver are still stable.  It has been about three months now, and they haven’t grown any bigger.  The spleen measures 6 cm from the rib cage to the pelvis (shouldn’t be felt at all in a normal child), and the liver was 3cm from the rib cage (should barely be felt).  That and the fact that her platelets have been stable for four months SHOULD mean something, shouldn’t it???  Of course, it could be just my wishful thinking, but I’ll definitely be asking Dr. S., the Gaucher’s specialist, next week.

5.  Future appointments.  Even though Dr. E. said that we only needed to see our pediatrician at normal 6-month intervals for checkups, Dr. B. wants to see Hannah every month to monitor her.  We go back on 3/20 (after Hannah’s appointment with Neuroopthalmology on 3/12).  Also, he wants to make sure that I ask to schedule “well check” time instead of “follow up” time so that he has more time to evaluate Hannah each visit.

6.  Head scratching.  Yep, Hannah is still going to town on her forehead and face with all this scratching.  She got her mitten off the other night.  Dr. B. wants us to put a layer of cortisone cream on the bottom with a layer of neosporin on the top (or mix the two) and cover it with gauze each night.  He thinks it may be related to itching from the original scratching, which is making it worse.

I think that is about it.  Hannah is still growing at 16-1/2 pounds!  He wants me to email him after the Cerezyme treatment on Monday and after we meet with Dr. S. on Thursday.  Some of the comments he made to me during our visit really made it seem like he has spent a lot of time researching Gaucher’s Disease, which I do appreciate, since this is his first patient with a lysosomal storage disease.

I seem to be using the word “sucks” a lot today.  Because this situation just sucks. 

I keep looking at Hannah, and I realize that I may never get the chance to get to know who she would have become.  It just gets me more upset.  As a mom, you think of your child’s future.  Hannah may never get to have a future that is hers.  I mean, if what Dr. E. says is true, Hannah’s life is going to be “special” with tons of therapies, medical treatments, pain, and neurological degradation.  She may forget who we are, forget how much we love her, forget what makes her happy.

I just don’t understand how this happened or even why this happened!  This is so f___ing unfair!! 

I know I took it out on Little Girl A and Big Boy E a bit tonight.  I’m so sorry for that.  I’m just so angry and on edge, and they do what normal kids do (push their mother’s buttons), and I just couldn’t deal with them and got angry at them.  Misguided, I know now.  I usually can contain it, but today I just was so not in the mood for the BS tonight.  Tomorrow is a new day…

I feel this overwhelming sense of urgency now to do something.  Raise money for research.  Get Hannah’s story out there even more.  Try to get our family life more “normal” for Big Boy E and Little Girl A.  I’m so determined to save Hannah’s life, but then I keep thinking “doesn’t every parent feel this way and yet they still lose their child?”

I don’t want to lose Hannah.  I don’t want her to forget how much I love her, and I don’t want her to forget how much she loves when I cuddle her and strokes her face.  Why does a disease have to take away her mind as well as her body?!? 

This just sucks.