Archives for February 2009

• 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.

We met with Dr E., Hannah’s new genetics doctor today.  I really liked her from the standpoint she seemed to know what she was talking about, she was upfront, and she didn’t sugar coat anything.

However, based on what we told her and her examination today, she believes that Hannah likely has somewhere on the spectrum between type 2 and type 3.  The most concerning features were the obvious hepatosplenomegaly at birth (enlarged liver and spleen) and what she considered abnormal eye movements in Hannah.  I’ve noticed that it does take Hannah awhile to find something and to focus on it, but she did a eye exam on her, and she found that Hannah’s eye movements are similar to what we be considered the first signs of neurological involvement.  She also has brisk reflexes in her lower extremities, but that may or may not be related at this point.

She is glad we are meeting with Dr. S next week, as she has worked with him personally for many years.   He is a neurologist, and she is a genetics doctor, and they would work together on treating Hannah, as she works with quite a few of his patients.  I’m REALLY looking forward to seeing him next week — if anything, maybe he can say she was wrong and type 1 still is a real possibility (she says it is very unlikely that it is a severe type 1, but we just don’t know yet).

I thought type 2 was out of the picture.  I was hoping type 2 was out of the picture.  If it is type 2, we only have a year or so with Hannah.  That just can’t be possible.  She thinks it is possibly a slow type 2 or a fast type 3.  Both suck, but at least type 3 would give us more years to fight for a treatment.   

I spent the whole car ride home from the hospital visit in quiet tears, as Little Girl A was sitting in the backseat with Hannah on the ride home (she was watching a movie in the infusion center while we met with the doctor).  Thank goodness she had her Nintendo DS to keep her busy in the car. 

So now we wait for Dr. S’s evaluation, and we wait for the DNA sequencing to see if that will give us any answers.  In the meantime, she wants us to increase our developmental therapy to weekly instead of every two weeks as well as her occupational therapy, which we will be starting soon.

If you are one that prays, please pray they are wrong, and it isn’t type 2 or type 3 — or if at least it has to be one, make it type 3 so we can work to find a treatment!  If you aren’t the praying sort, just keep positive thoughts coming this way for the same thing…

I’m started to get a bit freaked out about Hannah’s first cerezyme treatment on Monday.  We are told to be there at 10 AM and to plan to spend 3 to 4 hours there.  We know that it is an IV infusion, and we know that it is being done at the hospital’s infusion center downtown so she can be closely monitored.

I was looking at Genzyme’s Cerezyme official list of side effects:  Side effects related to Cerezyme® (imiglucerase for injection) administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported side effects include nausea, vomiting, abdominal pain, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme® therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Symptoms suggestive of allergic reaction include anaphylactoid reaction (a serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Approximately 15% of patients have developed immune responses (antibodies); periodic monitoring by your physician is suggested.

Even though I know this is going to help save her life (at least the physical symptoms if she does have type 3, as this doesn’t help the neurological symptoms), but wow, I am so worried about Hannah’s reaction to the Cerezyme…