Finally, some positive news!!

2 Jun by Mommy

During Hannah’s Cerezyme infusion treatment today, Hannah’s genetics doctor, Dr. Christine Eng, came to visit Hannah to do an evaluation.  It had been 4 months since she had last seen her.

I can honestly say that she was very surprised at Hannah’s condition.  She made the comment that (and I quote) “Hannah really looks wonderful” and that “these past four months were critical towards learning the progression of her disease.”  She made the comments that Hannah looks very nourished (not “emaciated”), her overall tone is good (except for her legs), and that she is still hitting milestones (even if they are at a delayed pace.).  She may have her “issues,” but she is still doing really good considering what the expected alternative was.

Lastly, she made the comment basically that “Hannah is going to teach us a few things.”   She wants her to get an echocardiogram because she thinks she may have heard a slight murmur, and she wants us to meet with a doctor of physical medicine.

Hannah is definitely not the typical neuronopathic Gaucher’s child.  Here we have a child who presented with symptoms in utero (which is unheard of) yet the progression is so much slower than the average nGD child who presents with symptoms early in life.

~ Filed Under: Hannah's Fight

Busy week ahead

31 May by Mommy

After glancing at my calendar for this week, I realized we have a LOT going on.

Monday – Meet with Dr. Eng, Hannah’s genetics doctor, before her Cerezyme treatment

Tuesday – Ethan and Abigail’s every-6-months dental checkup

Wednesday – Pam, physical therapy at TCH

Thursday – 1]  Pat, occupational therapy evaluation at TCH, 2] Jenny, developmental therapy from ECI, and 3] Ethan’s last day of school

Friday – 1] Michelle, occupational therapy from ECI, and 2] Abigail’s last day of school

My to-do list is overwhelming, however.  Thank goodness I don’t have any early scheduled appointments on Tuesday so I will be able to tackle some of this!

~ Filed Under: Hannah's Fight

Even sleeping, she is just adorable!

31 May by Mommy

Hannah has been sleeping in her crib for about 6 weeks or so now.  Between my video monitor and our movement sensor, I feel quite comfortable having her in there now.  She was just getting way too big to sleep in her pack’n’play overnight.  She would roll around, and she is longer than the width of the pack’n’play now!  I know, I know — it is better for her anyway.  Much more comfortable.

Last night, I was watching my monitor of her, and she just looked so adorable.  So, at midnight, I took this picture with my phone.  

~ Filed Under: Pics and Videos, Random Thoughts

Hannah’s Surestep Orthotics fitting today!

30 May by Mommy


I took Hannah to her orthotics fitting this afternoon.  Now that I am aware of her constantly rolling her ankles because of weakness (hypotonia), I can see why it will be a good idea for her.  The procedure itself was incredibly easy.  The orthotics specialist just took about 9 measurements on each foot and that was it.  Hannah did great, and she only squirmed during the last measurement!

We still don’t know if the insurance company will cover it, but they will let us know when they process the paperwork.  Keeping my fingers crossed there. 

samples2006He gave me a choice of patterns, and I chose the “blossom” pattern.  My reasoning?  I thought Abigail would like it the best out of all of them.  You know, my girly girl.  Cute little pink and purple flowers with butterflies. 

 The orthotics specialist told us that he would probably give me a call in about 3 weeks to bring Hannah in to test the fit.  Also, he made the comment that it is more difficult to find shoes that will fit over the orthotic braces at her age, but you know me, I will take on that challenge.

It is kind of bittersweet though.  Until now, Hannah hasn’t needed any “outward” assistive devices.  To everyone on the street, she just looks like a normal happy baby.   This will be the first assistive device that she will have to have.  I know, it is stupid because a lot of kids have these, and it could be SO much worse.  

But it is nice being able to be in denial every once in a while…

~ Filed Under: Hannah's Fight Tagged With: , , ,

Creating a plan of attack with the National Gaucher Foundation

29 May by Mommy

Unfortunately there is a lot that I have been doing for the past few months that I can’t blog about.  But I have been talking to researchers all over the country, different lysosomal storage disease organizations, as well as trying to reach out to the media.  I really only post when it is something that is “nonpolitical” or published. 

Today, I had a wonderful conversation with the head of the National Gaucher Foundation for about 45 minutes.  They have been so incredibly supportive of our fight against GD23, and they have opened their arms wide open to our families.  For the past 10 years or so, there was an agreement that the Children’s Gaucher Research Fund would fund and support GD23 families, and the NGF would fund and support GD1 families.  So, to take us in with such passion and care after a decade, it has just been fantastic.

She and I are going to work together to come up with a sensible plan to get a real formalized research plan and structure together.  She has some ideas that she is going to work on during the next week, and I have a lot of ideas and contacts to bring into the mix.   I really think she and I will work well together.  She supports my passion and drive, yet I feel comfortable enough with her because she is not afraid to be honest with me about how things “work” and keeps my feelings in check as to not to get my hopes up. 

Our concept is instead of having a few researchers here and there doing their own thing, we are going to attempt to create a huge umbrella with all the Gaucher organizations and other related diseases working together,  get a common point where all the research information is kept updated, and work on finding research that could make a difference for kids like Hannah who are here today, still fighting. 

Bottom line, our goal is to get work towards finding a treatment for our kids.

With the power and expertise of the National Gaucher Foundation behind us, I really believe we have the chance to get some real research done.  Keep your fingers crossed…

~ Filed Under: LMH Foundation Tagged With: , ,

Baby J, you will never be forgotten…

27 May by Mommy

Baby J.  He wasn’t even 7 months old.  I emailed with his mom a few weeks ago shortly after he was diagnosed.  Now he is gone.   He had Gaucher’s type 2.  My heart is breaking for his parents, as it just happened so quickly.

I’ve been sitting here with Hannah leaning against me, watching the Wiggles, thanking whoever would listen that she is still here with me.  Thirty minutes, I have been trying to write this post, and in between my tears for J’s family and for Hannah, I just have a hard time putting my feelings into words. 

Being in the rare disease community, we have seen other children lose their battles and their lives to these diseases.  But this is the first time that I knew that Joseph was alive and fighting, and now he is gone.   Does that make any sense?  I don’t make any sense.

This has completely shaken me, literally.   I’m not naive…I see the progression of this disease in Hannah, and now with J…argh!   I don’t even know what to say.   I can’t seem to think of anything else right now.  I don’t know what to do.

~ Filed Under: Gaucher's Disease, Rare Disease Tagged With: ,
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