Archives for January 2009

There were so many times during the past couple of months before we got our diagnosis that I feared losing Hannah within a matter of months. NPC scared the hell out of me. Not only would that disease take her away from me quickly, but it would do so in such a horrific and debilitating way. Gaucher’s Disease, even with it’s challenges, gives us much more time.

I was so afraid of the day that she may lose her smile, her ability to know “mommy,” and the excitement she displays when she sees me or hears me come into the room. I spent so much quiet time focusing on the little things between us like the way that she caresses my arm and face when she is tired, the way she just looks into my eyes when she is lying next to me cuddled up against me, the innocent giggle she makes when I slightly tickle her, and the feel and smell of her skin.

These things created such a beautiful feeling inside me, something that cannot be truly photographed or even caught on video. It is so cliche, but we really do need to cherish our children’s daily moments, regardless of their age. They will never be that young, innocent, and unconditionally loving towards us as parents again.

Some days I feel like I make no progress.  Then there are days, like today, that I just feel completely overloaded.  To sum up….

1. Consultation with the hematologist/oncologist regarding a possible bone marrow transplant for Hannah.  When the lady called me to schedule the consult that Dr. G., the genetics doctor, recommended, I was taken aback.  From everything I’ve read about Gaucher’s Disease, a bone marrow transplant is the last line of defense when the Cerezyme (first line) and the Miglustat (second line) do not work.  Even then, the risks versus benefits are not in favor, as it doesn’t always work.  I made it clear to the lady who made the appointment that we weren’t even considering a bone marrow transplant at this point, and she apparently knew this.  So, we are meeting this doctor on the 2nd of Febrary after meeting with the Jewish Family Services to see what they have available for us.
2. Scheduling her first Cerezyme treatment.  So it looks like they are shooting for February 6th.  We went from doing one treatment at the Infusion Clinic downtown (to watch for side effects) with subsequent pediatric Home Health visits to now doing more treatments there and no Home Health yet.  I’m not sure why.  Even though it will be a pain to drive every 2 weeks, I’m not that upset only because she will be in a more controlled environment just in case she experiences side effects or something.
3. Medical Records scramble.  I’m still trying to get the medical records from the clinic downtown for Dr. S., the Gaucher’s specialist, next month.  Supposedly, at least I was told this, they will be worked on this Monday.  I sent them in on January 9th.   I’m sure I’ll have to follow up on this too.
4. The Project Charity.  I talked with Nicole who is heading up The Project Charity, an organization that is just what I needed when I first started learning that Hannah had a very rare disease.  I’m going to work with her on a community-based and interactive portion of their site to help other families, especially those that don’t have access to experienced medical professionals in their area.   She has fantastic ideas for the future of this program, big time, and I am so excited to be a part of it and get involved.
5. Got my eye appointment in finally.  I had to postpone it three times because of various appointments for Hannah that popped up the same time I happened to schedule this.  Fortunately, my eyes are still healthy, and my contact prescription hasn’t changed (in about 15 years!).  Note to self…order contacts!
6. I picked Little Girl A up at 2:15 PM today instead of 4:30 PM at school.  She was already at the window waving at me when I drove up.  You could see the huge grin on her face.  Her teacher told me that she had been saying all day that I was going to pick her up early.  While she was getting her stuff ready, I said three different times that I won’t do this again and that she will have to stay the whole day, and she said “she knows.”  We will see.
7. Fighting with the insurance company/laboratory about this dang $400+ lab bill from three months ago.  The doctor or laboratory coded it wrong, and the insurance company won’t cover it.  Trying to get someone to fix this for us is a nightmare.   Everyone passes it off to someone else.  Now, we got a deliquency notice, and my insurance rep said that basically we should pay it now (the lab bill) instead of waiting until it hits our credit.  Great.

Other than that, nothing much else happened today!

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I try and keep Little Girl A and Big Boy E’s adventures in our lives separate from this blog, but something happened with Little Girl A that is still just breaking my heart.  

She goes to preschool 3 days a week (she is almost 5 and will start kindergarten next year).  She was going 5 days a week at a different preschool, but she had such a difficult adjustment to Hannah being home that we ended up not only changing her to 3 days a week but putting her in an entirely different school. 

For the past few weeks, she just has not wanted to go to school.  She “misses mommy too much” and wants to stay home with me.   She gets a lot of hugs and kisses every day, and I make a really strong effort to give her the extra attention she feels she is missing out on.  When I ask her why she doesn’t want to go to school, she comes up with a myriad of reasons (none of which are true, I’ve talked to her teachers). 

This morning was the worst.  An absolute meltdown.  We are talking kicking, screaming, and enough tears to fill a lake.  It lasted for over 30 minutes.  Daddy almost had to carry her down the stairs kicking and screaming. 

I didn’t want to give in to her desire to have another stay-home day with Mommy (she was home with Hannah and I yesterday).  I just knew that if I gave in, I’d be starting a bad trend.  But I did compromise and said that I would pick her up a little bit earlier today.  That finally calmed her down enough she would go with Daddy without fighting him.

The tears, the screaming tantrums, the oh-so-sad and make-a-bassett-hound-look-happy face, for over 30 minutes this morning.  Hannah even started crying a few times during this because it was just so dramatic.  

I know she is wanting to be more attached to me since Hannah got here, but unless I cuddle and hug her and play with her every second, I am doing everything I can to give her so much attention.  I even make it a point to put her before Hannah in quite a few things (when it is safe to do so — like purposefully saying to Hannah something like “I can’t play with you now, I’m going to play with Little Girl A, and you will have to play with Daddy).

What happens when she starts kindergarten next year and will have no more stay home days with me?

I sent an email to Dr. W., Hannah’s guardian angel and a specialist on Gaucher’s (who referred us to Dr. S. next month).  Here was his reply:

THere are some subtle abnormalities in hearing related to auditory nerve dysfunction that may be found in type 3 patients and that,to my knowledge, are not found in type 1 patients. The auditory nerve is one of the cranial nerves and can become abnormal as an early finding in type 3 much in the same way that the cranial nerves that affect eye movement can be abnormal. The technical name of the test that is usually done is “auditory evoked potentials.” This would not usually be done as part of a standard hearing exam. We are encouraging performance of this test for possible type 3 patients who are being enrolled in the Type 3 Sub-Registry study. I dertainly understand that the sedation is a concern but I would encourage you to allow them to do the test.

I am so lucky to have “met” this man!  I know I’ve said this before, but he has been Hannah’s guardian angel…he answers all my questions very quickly (and I’ve had a lot), gives me things to think about, and also got me a quick referral to THEE top Gaucher’s type 3 specialist in the country.

So I get a call from the hospital clinic’s audiology department today to schedule a “sedated hearing exam” for Hannah.  I had no clue what she was talking about since Hannah passed her newborn hearing exam without any problems.

I GUESS Dr. G., the genetics doctor, ordered this exam.  Nice of him to tell me it is coming!   When I emailed him about it, I got this response…

We want to get the hearing test for Hannah in our attempts to determine if she has type I vs type III Gaucher disease.  Subtle changes on the hearing exam (even if the newborn screen was normal) might be an early indication of type III Gaucher.  The other test we will pursue to try and help determine this is to perform full gene sequencing of the Gaucher gene (to determine what mutation her second copy has). 

Two things… how are they going to sedate her?  And wasn’t this sequencing test supposed to be ordered immediately after we got the diagnosis??

The hearing test idea doesn’t bother me.  The sedation part does.  It is a 3-hour test apparently.  She has never had to be sedated before for anything… I need to research this much more before February 18th (the scheduled day of the test).