Today was Hannah’s infusion day downtown.   After another night of very little sleep (maybe 4-1/2 hours), I was able to get the kids on the bus for school and drove downtown to TCH for her infusion.

Of course, on this day, it was raining.  What is normally a 1-hour drive to the Infusion Center turned out to be a bit over 2 hours thanks to the traffic.  Hannah threw two tantrums towards the end of the drive, once in the middle of the dead-stopped freeway, of which I was trying to figure out how I am going to stop the car, get out, and calm her down.  Finally, some part of the Mickey Mouse DVD caught her eye (second time watching it this morning), and she calmed herself down.  The second time was in the parking lot of TCH.

But we made it.

We went through our normal routine of getting the IV done, throwing a tantrum because she is just in that kind of mood still, and getting her Cerezyme flowing through her body (600 units).  Yay!   Like usual, she falls asleep shortly after the infusion starts.

When she sleeps on me, I usually play on my phone or watch the TV that is there.  I must have dozed off during her infusion holding her because I woke up, and we were both covered with a blanket!   Apparently I had fallen asleep for over an hour, and the nurses just “tucked us in” (as she called it).   I can’t believe I slept so long there!

I do admit, I felt better after that nap.   However, I did go to the TCH food area and got a Diet Mountain Dew for the ride home.

Two more nights until Daddy is home!

I have been dreaming of this moment for many, many months. But she finally has conquered this. Hannah can now put something IN a box! She mastered taking OUT for quite a while, but putting in requires both cognitive learning, eye movement control (which hers is very poor), plus communication skills (her weakest point).

She did it! You can hear how excited her therapist and I are once we realized she has figured this out. After this video was made, she did it ON HER OWN for about 10 minutes while her therapist and I chatted! Then, at dinnertime, she kept doing it on her own while the rest of us ate dinner! She is loving it now. We have to make sure we have her practice it almost every day so she does not forget it.

I learned a lot from watching Hannah learn this skill. She does a LOT of things by sound. She is not able to watch the block drop into the box, so it seems like she has figured out where the box is (from the top) and then drop it over the box. I think this is one of the first times I have really seen her ocular motor apraxia and supranuclear gaze palsy (unable to move eyes up/down, side/side easily) comes into play. But, she is doing what she really does best…compensating for her disability and making it work for her!

I am so incredibly proud!!!

There are certain people that come into your life who have words so powerful that you can’t get them out of your mind.  They don’t mean to be so prophetic, but with no intention on their part, a single phrase becomes ingrained in your heart.

I was talking to another nGD mom a week or so ago who was having to face a very difficult decision, one that I have feared that I would have to face since we got Hannah’s diagnosis 14 months ago.   It came down to how much medical intervention would we, as parents, put our children through in order to keep them with us versus how much quality of life would it give them.

I did not know what decision she and her husband would make at the end of the conversation, but I stayed up all night long thinking about it, what if it was Hannah I had to make that decision for?  What would she decide?  What would I decide?  I had prepared myself for whatever decision they made, because unless you are in that child-specific situation, there is no judgment that can be made.  Honestly, I was as torn as she was.

She made the comment to me about just needing to see her daughter smile again to know that it was the right decision to go ahead with the invasive medical intervention.

Almost as if was planned, Hannah crawled over to me at my desk, and she just sat there with a big smile on her face looking at me.   A true “I am happy, mommy” smile.   Then it hit me.  THAT right there is why I make the decisions I do for Hannah.  THAT is why I work so hard to get her therapies, specialists, and equipment that will help her.

I want to see that smile, all of the time.  No, I NEED to see that smile.  Hannah’s smile is what keeps me going every single day.  She may not be able to talk or walk or put a toy “in” a box.  But she smiles, at me.  She hugs me with a tight grip as if I am the most important thing in the world to her.   She lights up when I walk in the room after being away for a short time.

It is her smile that keeps me fighting for her.

The mom just posted a picture of her daughter in the hospital yesterday…not in any distress, comfortable, and yes, smiling.   After seeing that picture of her little girl smiling, I know she
made the right decision for her.

I had been dreading this day for two weeks.  I have to admit, this is the first time I had been dreading Early Intervention’s quarterly or so assessment of Hannah’s life skills.   Her last one was at 15-1/2 months and today she was counted at 18 months even though she will be 19 months in a few days.

No, there are no accidental duplications or typos.  With the exception of her physical age assessment, she has not gained any new scorable skills in the past 3 months.  As a matter of fact, her communication and social-emotional skills have not changed since her 12-month review.

Hannah’s skills are very scattered.   Therefore, this review is not a very pinpoint accurate assessment of Hannah, but as I was reminded by both Hannah’s hydrotherapist and her developmental therapist, this is just a tool.

Communication is probably the area I wish we could progress on most.  She still babbles on occasion and uses her “ga” sound without any real intent or purpose.  But she does not point to objects, hand us something she wants to use, wave ‘hi’ or ‘bye’, or really anything.  She does not respond to most things we say to her as if she comprehends them.  Even if we call out her name, she does not react most of the time.

We are going to start being more diligent with the sign language, but she does not look at us much of the time we talk to her unless we actually go in front of her face.  It isn’t like she looks at us with a “what are you saying?” face, but she just goes on about her day as if we are speaking babble to her.  We know her hearing is fine, as she passed her ABR and hearing tests recently.

Thank goodness we get smiles and tantrums because at least we know how she is feeling.

It really is almost like she is frozen in that 8- to 10-month old mindset without any real progress lately with the exception of her physical development.  At least we are seeing good progress in that area.

I just have to keep reminding myself that she is happy.  She is not in pain, and she just wants love, hugs, laughs, and toys.

I just want so much more for her that I can’t seem to give her.  I want to see more progression in her learning, even if it is at a slow pace!

The fact that her learning is so damaged at this point really scares me.  I just don’t know what to make of it.  I have heard stories of other kids with this disease, but Hannah just seems so different than most of them in this respect when combined with her other disease symptoms.   I feel like we are in unchartered territory (which we are anyway with her and nGD).

I know I should not put so much emphasis on this review.  But I can’t help it.  Clearly, Hannah’s learning of new skills is getting much slower and almost at a standstill in some respects.  What does that mean for her future?

Yes, we know that pretty much all “by mouth” foods are not an option for Hannah anymore, at least for now.  Since we stopped giving her things like goldfish, cheetos, and cheerios, she has not had one gagging episode, not even a little one!   We have not even had to touch the oxygen we have here either.  It is very obvious that her gagging episodes that landed us in the ER twice were all related to her hypersensitive gag reflex, a progressive symptom of her disease.

Our biggest issue is she LOVES putting things in her mouth, especially toys and pacifiers.  Rarely is she without something in her mouth if she can help it.  That’s what makes not giving her food so disappointing because she loved eating her goldfish, cheetos, and other easy finger foods.  It also was a great keep-her-busy activity when we are at a restaurant.

But safety comes first.  We didn’t want to completely take away the enjoyment of food, so we are still giving her completely meltaway types of foods like Fun Dips sugar sticks, condiments, syrups, and whipped cream.

She LOVES this alternative.  Last night, we gave put strawberry syrup all over her high chair tray along with designs of Redi-Whip cream.   As you can see, it became an edible fingerpainting good time!

I would love to find something non-breakable (chewing wise) that we can put something like syrup or a stage 2 food or something like that inside, and she can chew on it and get the flavor.  I was thinking about a turkey baster type of thing, but that leaks much more than I had hoped.  If anyone has any suggestions, I’m open!

Today was Hannah’s 26th Cerezyme treatment.  Every two weeks for the past year, we have made the drive down to Texas Children’s Hospital’s Infusion Center.   For 2-1/2 hours, Hannah is cuddled up against me (usually asleep) while she gets her life-prolonging enzyme replacement therapy treatment via an IV in her hand.

We have been lucky that she has not needed a surgical port placed yet.  We, along with her doctors, have all agreed that a one-minute cry during the input of an IV far outweighs the risks of having to deal with an surgically placed infusion port inside her chest.  The nurses at TCH have been able to master her IV placement, and it literally takes less than a minute to get it done.  Even Dr. Schiffmann, her Gaucher specialist, was incredibly impressed by this feat.

In my heart, I truly believe the Cerezyme treatments have kept Hannah alive longer than if she had not had the treatment.  I look back at how large her spleen and liver where when we started at 6 months old, and she would have probably suffocated because they were already shrinking her lung capacity by their size.

I know they say that Cerezyme does not cross the blood-brain barrier.   But making her more comfortable by dealing with the other physical symptoms of type 1 Gaucher’s (bone pain, spleen and liver enlargement, etc) has made Hannah much more comfortable and happy.

Hannah is not in any pain.  She does not live in pain.  For that I am incredibly thankful.

One year of treatments down.  A lifetime to go.