Since Hannah was diagnosed, there have been six children who have lost their fight against neuronopathic Gaucher disease. 

On facebook this morning, I got a message from a dad that we have come to know really well, and he told me that their toddler child passed away just a few hours earlier.  This is a family that both my husband and I have really connected with.  We knew the child was in the end stages of the disease, but when he told me, I felt my heart being ripped out.  (I’m going to wait until after the funeral to give more details).  I just didn’t know what to say.

I haven’t been able to stop thinking about it all day.  I’ve talked with other family members who have lost their children to this disease, but I felt like I really developed a connection to this family moreso than the others.  We shared pictures of our kids, opened up our feelings to what this disease has done, etc. 

I keep catching myself starting to cry.  I’ve been very distracted all day.  I haven’t been able to let go of Hannah until now, when she finally fell asleep in my arms.

Then I got another reality check.  This disease is real.  This disease is ruthless.  This disease is painful.  It is killing our children.  There has to be a way to stop it.  I don’t want Hannah to be another victim of this disease.

One of the things that we are starting to feel is necessary is for Hannah to start socializing with other children around her age.  We don’t have any friends with young infants, so the only real experience she has had are friends of her brother and sister, who are obviously older than she is.

We can’t send her to daycare.  She has too many “issues” that would not make it safe for her to be there nor would we probably be able to have her in a regular daycare.  There are no “special needs” daycares near us, as we found out the nearest two are 2 hours and almost 4 hours away from us. 

So we are limited in our options. 

I took advantage of trying out a free MyGym class Monday afternoon to see how she would do in it.  The class was for the 7mo to 13mo babies.  There were only two little boys in there, about 7mo and 10mo.  They were so incredibly active — one was crawling all over the place, the other was waddling around.   They were throwing things, crawling up on things, going in and out of tubes. 

Hannah just sat there, holding a little ball in her hand.

As I was sitting there trying to help Hannah get to her knees just to get into a crawling position, I saw the other two moms look at me with that look of confusion on their faces.  They were very sympathetic, but it seemed to me they were looking for an explanation (I probably would too).  So I shared that she has some delays.  From that moment on, you could see the friendly pity in their faces, which even though they were incredibly sweet, it just made me uncomfortable since Hannah couldn’t do most of what the two boys were doing.

It just wasn’t right for Hannah.

After talking to my neighbor, we are going to check out Kindermusic.  Perhaps something not so focused on the physical would be a better social situation for Hannah to start with.   We are going to try out their free class on Thursday morning.  This class is geared for newborns to 18 months, so I think this larger age range would give us more flexibility as well. 

We will see how that works out!

I never realized how much of an impact the NIH trip had on me until recently.  

I went from feeling like her condition was so serious that we would only have a few months left with her (type 2-ish) to feeling like maybe this disease isn’t progressing as fast as I had originally feared.  Maybe, just maybe, we would have a couple or even a few years with her instead of a few months.   Maybe being so unique, not fitting the “classic acute or chronic neuronopathic Gaucher disease” child (from the NIH report) will give us more time than the average child who presents with symptoms of nGD at birth.

Last week, I was waiting with Ethan and Abigail at the bus stop in the morning.  I remember thinking to myself, “I wonder if Hannah is ever going to be able to ride the bus, or will we have to do a car-rider for her because of her disabilities.”   Walking back to the house after they got on the bus, I realized how HUGE this was in terms of my change in attitude towards her prognosis.

There have been so many times that I have not even let myself think of Hannah being here to go to Kindergarten and going to the same neighborhood school that her big brother and sister are going to now.   It would always stab at my heart because, then, I just felt she wouldn’t make it a few years, let alone a few months.

But I realize now that I am planning for Hannah’s future, albeit a few years not a lifetime.  I’m slowly trying to wean her away from needing me every single second, and I am slowly trying to help her gain more independence.  Well, as much as I feel comfortable with (which is still probably nowhere near I did when Abby and Ethan were this age).  She still needs me for so many things that a on-track 13-month-old wouldn’t need.

But I am planning for her to get to Kindergarten.  Somehow.  I have hope now.  Real hope.

I’ve become much more aware recently about the widening gap between Hannah’s ability and other children her age.  When the MDCP nurse asked me if she follows commands and understands what we say, I just shook my head. 

There is just ONE command that Hannah recognizes and will respond to.  “Uppies.”  If I say “do you want uppies?” a few times, she will actually get excited and put her arms up.  OMG, does my heart soar when she does this!  This is the only interaction she really does with us where we know she understands us.  Anything else, well, she doesn’t seem to either understand or respond to.

I was reading Melissa’s latest post about Kyle, a little boy with Hannah’s disease who is just a month older than her.   

But still, he’s like a baby who’s not growing up. He should be running all over the place, playing on the grass with his brother and sister, or toddling through the house in footie jammies. Instead, at 14 months old he’s still stuck in his exersaucer watching everyone else have fun. It’s incredibly heart-breaking, but I’m determined to get him going.

I could have written this point, word for word. 

It is almost like Hannah is stuck in a perpetual time warp that keeps her at the 6- to 9-month old level developmentally.  She is trying so hard, and she really doesn’t know any different, which I thank god for.   She can’t go from a lying to sitting position or really crawl to where she wants to go (she gets winded within a few feet). 

But then, every once in a while, she will spark with something just so “advanced” for her, like her walker.   That just blows us away!

For me, I think the hardest thing is not knowing *if* she will learn certain skills, such as understanding communication or really moving (like crawling or walking on her own).   Even though I LOVE sharing about the skills and advancements she does make, there are just so many that she hasn’t hit yet or just doesn’t seem to get.  That’s why I relish and want to scream to the world about the ones she does make.

I do wonder… will she ever be able to call me “Mama?”

Hannah and I met with a nurse from the DADS (Department of Aging and Disability Services) office regarding getting Hannah on the MDCP (Medically Dependent Children’s Program) program sooner than the 9 years that the waiting list is currently at.  We are hoping that she will qualify for a “waiver” program that will allow us to take advantage of some of the services within months instead of years.

It was basically just an initial intake of Hannah’s condition, symptoms, etc.  However, I found myself saying “No” to a lot of the questions (which actually  made me happy) such as:
~ Has Hannah ever been hospitalized outside of birth?  Nope.
~ Does Hannah have any medical equipment?  Nope, well, orthotics, but none of the big stuff.
~ Does Hannah require specialized 24-hour care?  Nope.

Then, I started thinking that maybe Hannah wasn’t “sick enough” for this program?  Wouldn’t that be a kicker?  The nurse does seem to think she will qualify.  But we will find out in a month or so, as we have more visits, and our pediatrician has some paperwork to do.

Then, we started going through the list of symptoms that Hannah currently has based on the NIH report, Dr. Schiffman’s report, and our pediatrician…

neuronopathic Gaucher Disease
hypotonia
supranuclear gaze palsy
brainstem dysfunction
ocular motor apraxia
global developmental delays
hepatosplenomegaly
vocal cord paresis
atrial septal defect
decreased blink reflex
slight eyelid retraction
interstitial lung disease
sensory feeding problems
increased startled reflex
diffuse ligamentous laxity
genu valgus abnormality
IgA deficiency

Wow.  To see it all in one place is almost surreal.  But then I look at Hannah, and I just don’t see this?  I see a some of them, but I really just see an adorable little girl who is happy and loving and likes to be involved.  Anyone else who sees her really doesn’t see many of these.  She doesn’t come across as a 17-symptom-plus baby — she is just a sweet 12-month-old with a big smile.

I see the list.  But it really is just that.  A list.  It isn’t “my Hannah.”  I understand what they mean by “the disease doesn’t define the person,” it is just what she has.  Hannah is just so much more than her disease.  I love that about her.

Hannah turned 13 months old yesterday!!   I would have posted, but it has been crazy with Ethan and Abigail starting school this week.

We saw Dr. B., her pediatrician, today.  We actually haven’t seen him in his office in two months!  We went from visits every two weeks to every month.  Now we are finally at every 2 months! 

For the important stuff, her numbers are in…

Height:  29-3/4 inches (1 inch growth since NIH in mid July) – 50th percentile
Weight:  20 lb 9 oz (9 oz gain from the NIH in mid July) – 25th to 50th percentile
Head circumference:  19″ – stable! – >97th percentile

No failure to thrive issues here! 

We are still having major feeding issues, but we are going to start incorporating even more baby food into her bottles (along with still attempting to feed her by mouth often), less formula, and start introducing whole milk.   We are also meeting with the nutritionalist in a few weeks, which will really help us fine tune her eating so we can try and avoid a feeding tube since she is going to start requiring more calories now that she is more active.

She also got her first of two flu shots today along with 2 of the recommended 12-month immunizations.  Dr. B. is being more cautious about what immunizations she gets and when, which I appreciate. 

And again — TWO months until our next follow up visit!