Recovery and Progress



About 10 days or so ago, Early Intervention came out to do their assessment of Hannah.  Though they didn’t use the same test that our service coordinator used in Texas, it was similar and showed the same results.  Hannah’s skills are still “scattered,” and she ‘rates’ between 8 months to 12 months old in all areas…physical development, adaptive behavior, cognition, communication, and heck, I forgot the last one.

But Hannah has progressed so dang much since she was released from the hospital the first time just 1-1/2 months ago.  She went from a baby who had no control over any of her movements, no strength, and could barely hold a pacifier in her mouth to a child who today is crawling all over the place, sitting up and playing, and eating baby food by spoon without any problems.  She still has some movements in her hands and arms, but that does not stop her from doing whatever she wants to do.

I can barely contain the smile on my face and the excitement in my heart every time we go to private therapy (3 times a week – OT, speech, and PT) and her therapist says “I can’t believe how much she has progressed in just 1 week!”

Even my mom, who has not seen Hannah in 3 weeks, saw her today (as she was picking Ethan and Abigail up to take them to Cali for the week) and noticed how much better Hannah is.  Not only does she look fuller because she has gained some weight and doesn’t look at skinny, but Hannah is doing so much more than when she last saw her.   Three weeks ago, my mom said she wasn’t crawling, and she wasn’t even trying to sit up by herself.

Now, Hannah is all over the place.  She has even gotten herself back to the point where she will crawl over to the couch and get up on her knees.  She tries to get her foot under to get to a stand, but she is just not there yet.  But I know that in just a few weeks or so, she will regain that strength too and will be cruising all over the place again.  My hope is that she can even start using her gait trainer in a month or so (her PT thinks it may even be sooner!).

What Hannah has pulled off after being in the hospital for 6+ weeks (28 days in the PICU) and was at the point where I feared for days that I would lose her  because she was so sick…to what she has done in just the 6+ weeks since being let out of the hospital.   Seriously, I don’t know if I could work at recovery as fast as she has — and she wants to, which I know is the key!

She wants to do so much, she pushes herself.   She does not like the trach and has pulled it out half-way twice, pulled out her g-tube mic-key button once, and she takes off her HME (the cover of the trach) at least 25 to 50 times a day.

She is AMAZING.

I took these pics of her today.  She was just sitting on one of her chairs with her toy desk, and she was just having a great time.

S.O.S.

Stressed, overwhelmed, and sad…S.O.S.   That is how I am feeling right now.

We move in one month to Las Vegas (which I am really looking forward to).  However, Daddy still does not have a job after sending out over 100 resumes (with only 2 phone interviews, one in-person interview) in three months, complications with Abby’s encopresis, the “on hold” status of our life while we pack and prepare to move, the intense stress of the thought of having to pay rent on a house in Vegas while trying/hoping/praying that our house here in Texas sells (mortgage/bills plus knowing that it has to be repainted inside, powerwashed outside, plus new carpeting and possibly half of a new roof).  Yeah, money is a huge stressor in our life right now.  Between his unemployment and my part-time job (which I wish would allow full-time status), it definitely is not enough for our family of five to live on, especially with us still in the “out of pocket” portion of our insurance before we max out.

But I think the worst part of all of it, and the part that is bringing me real down today, is Hannah.  Reality is that I can see this disease is taking more of a toll on her, and it is killing me.  I see her eyes starting to get more fixed/crossed separately, and I know one day the strabismus (fixed, inoperable crossed-eyes) is just looming over her.   For now, she is able to get out of it, but it is becoming more and more noticeable.

Looking at her overall lack of progress over the past 9 months, it is strikingly apparent.  She is still a 9-month-old baby in a 21-month-old toddler body.   There are very few “yes” activities I can add to her 12-month-old list of milestones that were not there before.   Just even glancing at the 2-year-old milestone list,  there is not ONE “yes” I can add, and worse yet, she hits every single item on the developmental watch list on that page.

There are days, like today, I wish her communication was better.  I just wish she would even recognize her name when we call her.   With the exception of just a few commands, there is not much communication she understands.

Then there is her ear tube surgery this Friday.  The easiest childhood surgery there is.  Abigail has done it three times.  Yet, I am completely stressed out about it.  This anesthesia situation has me on pins and needles.  We already got the call from the hospital to preregister her since we are anticipating spending the night there for observation.  Simplest surgery — yet, I am completely stressed about it — just does not make sense to me!

Now I know she is going “at her own pace.”   It is just that it has been so long since we saw any real progress.   It just sometimes makes me sad when I get that realization at how “significantly disabled” she really is.  There is no treatment to help her, no cure that is near on the horizon.  No one saying “hey, we are really close to something.”

But I keep reminding myself how fortunately we are with her.  She is painfree.  She is on very minimal medications.  With the exception of her orthotics and gait trainer, she has no medical assisting devices to support her life.   She is happy where she is at.  She is smiling.  She loves her toys, the same toys she has been playing with for a year.   She loves her brother and sister interacting with her.  She loves to be read books.  She gets the biggest smile on her face when she gets picked up.

Today is just one of those days, I guess…

Cardiology Thursday

We have our 6-month followup with the Dr. Jeffries, Hannah’s cardiologist over at TCH.   During her last visit, it was noted that her aorta was slightly dilated and that she had a patent foramen ovale.

There is a part of me that is not as concerned about cardiac issues because that is not a normal path of nGD.  However, the not-so-naive part of me says that Hannah has strayed in many different ways from the normal path of nGD and also carries one mutation of the D409H mutation which may carry cardiac issues.

Thursday Hannah is going to have another EKG and echocardiogram, and it should give us a good idea of where her heart issues stand.

From October 2009: We met with the Cardiologist this morning.  Hannah does NOT have an ASD (atrial septal defect), but instead they believe she has a PFO (patent foramen ovale).  It is something that is very common, almost 30% of the general population have one.  It can be left alone for the most part unless Hannah developes migraine headaches when she is older, then they can close it.  Otherwise it is just something that will be monitored but left alone!  Great news on that front.

However, they also noticed that Hannah’s aorta is slightly dilated.  This is of some concern, as if it continues to dilate, it could cause an aortic dissection (think John Ritter).   But for now, we are just going to monitor it and do another echo in 6 months.  There are three schools of thought on this:

1. It could be related to Hannah’s D409H genetic mutation, which when homozygous, is known to have the propensity for cardiac calcification issues.  Perhaps her never-before-documented combination could related to aortic issues?
2. It could not even be related to Hannah’s Gaucher’s Disease, and it is just something “else” we need to keep an eye on.
3. It is just a normal variant for Hannah, and this is the size of her aorta.

In 6 months, we will have a better idea whether or not it is just a normal variant for Hannah or if it is indeed a cardiac issue that is going to have to be closely monitored over the course of her life.

Mama caught dozing!

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!

Being part of the IN crowd

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!!!

Fight for a Smile

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.

Hannah’s disappointing DAYC review, 18 months

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?

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