I’m not expecting any real surprises, but honestly, that is what I am anxious about.  Hannah is known to surprise us and throw things into the mix, so I don’t want any surprises.  I know that she is doing another EEG, BAER study, meeting with PT/OT, having another abdominal ultrasound and/or CT scan, and a couple other things.  Nothing as drastic as having to be sedated for an MRI or having to deal with an IV this time, thank goodness!

I’m looking forward to seeing Dr. Sidransky, Dr. Goker-Alpan, and Catherine, their coordinator.   They are such wonderful, down-to-earth, and caring specialists.  We really felt like they were taking a personal interest in Hannah, spent quality time with our family, that she was just not another number.

What do I hope to leave this visit with?  Good news.   But honestly, I just want to know exactly how Hannah is doing in relation to this disease.  They are the ones who can tell us this more than anyone (even continuing our “no prognosis at this point” is good news!)

I got a call from Texas Children’s Hospital’s billing office saying that Hannah’s infusion on Monday may be disrupted because our insurance is showing ‘inactive.”  I explained to them that we elected the Cobra and that we were waiting on them to reinstate the insurance, which we read is retroactive all the way back to the first day it lapsed.   She kept saying, “Well, I will need to talk to someone about this, but I may have to call you back to cancel it.”

I talked to the Infusion Center director, and she said that she can have Hannah’s doctor write a letter of medical necessity that Hannah get her infusion without problem so that they will go ahead with the infusion.  Worst case scenario, she said, was that we would be charged for the services until Cobra is activated and just not to pay the bill when it comes to us.

Of course that makes me nervous, but Hannah NEEDS to stay on schedule with her infusions.  She has not missed one yet, and I don’t want to start now!

I’m keeping my fingers crossed that they don’t cancel on us for this Monday’s infusion!

In her play area in the living room, we have a stone walkway separating the living room and my office (where she can easily see me).  She would see me at my desk, and she would just cry out when she wanted me.  Or she would crawl up to the stone walkway, but she would never go across.  It was almost like an imaginary barrier for her.

Over the past 2 weeks, Hannah has started branching out in terms of getting some distance in her crawling.   Last weekend, during our family movie night (DVD in our bedroom with the kids on the floor), Hannah ended up crawling from her upstairs little play area all the way across our room towards the balcony!   As soon as we realized where she was, we all were shocked and laughing!  Thank goodness we had the upstairs gate closed!

Since then, she has started crawling from our bedroom into our bathroom when it is her bathtime.   Even though this is only about 10 to 12 feet, she is going from carpet to floor.  And she has done it every bathtime since she first figured it out!  She will even follow Daddy or I into our closet, which is about 20 feet away from her playarea in our room!

Fast forward to tonight…

Abigail was taking a shower in our bathroom tonight.  She left her pajamas on the floor in front of the shower.  Hannah, on her own decision (since we were in our room), crawled to the middle of the bathroom (past the shower), turned around, and started to crawl back.  She stopped at Abigail’s pajamas, played with them for a bit, and then decided to take them back with her as she crawled into our room!

It was so dang cute watching her crawl with these long pieces of clothes on her hands!   Then, if that wasn’t cute enough, she ended up plopping back down on the carpet in our room, and just started staring at these pieces of clothes on her hands.

It was hysterical!   And best of all, it was a reminder that Hannah is still learning new tricks….just at her own pace.

(And yes, next time I’m bringing my video camera up here!)

According to the National Institutes of Health (NIH), 1 in 10 Americans suffers from a Rare Disease — that’s 30 Million people in the US alone! Collectively, Rare Disease is not so Rare!  Join our campaign to help raise awareness by downloading your jean ribbon today and spreading the word!

Here are some facts on Rare Disease that you may not know:

• A Rare Disease is life-threatening or chronically debilitating disease which is of such low prevalence that special combined efforts are needed to address them (ie. such as neuronopathic Gaucher’s disease)
• Approximately 7000 different Rare Diseases exist, with countless awaiting researchers to identify
• Today, Rare Diseases are not being invested in by pharmaceutical companies because of small patient populations and lack of financial incentives to Pharmaceutical and Biotech companies
• Pharmaceutical companies have only developed treatments for 200 of the 7000 rare diseases causing a healthcare crisis
• Approximately 75% of Rare Diseases affect children (22.5 million in the US)
• 50% of the identified Rare Diseases have no foundations, support groups or community support for the families

Let’s never give up Hope! It’s In our Genes!

• Our next National Institute of Health visit is already set and ready to go!  We are going to be going during the kids’ Spring Break so they can go share this experience with us.  I know they are going to have a good time at the Children’s Inn at the NIH with all the activities and themed dinner parties every day.
• Liver function tests.  We got the results of Hannah’s liver tests back today, and they all came back in the normal range with the exception of her elevated GGT, which means there is something going on with her liver.  Waiting to hear back from the NIH docs to see if they want to have a liver biopsy done or not.  It is not extremely high, but the question is it high enough to warrant intense scrutiny or continue to watch it.
• EEG came back normal!  I knew in my heart she was not having seizures.
• Liver size on abdominal ultrasound – back to normal!
• Spleen size on abdominal ultrasound – still “moderately enlarged,” 8.6 cm.  The NIH is going to do another ultrasound and compare it to last July’s when we were there.
• Mild Right pelvo-calyceal dilation – new finding on ultrasound — we need another test to make sure there is no reflux of urine going back up towards the kidneys from the bladder.  Waiting to see if we do that at the NIH too or here at TCH.
• Auditory Brain Response, Normal?!  The reason that this is a questionable result is because the day after we took this test, we saw Dr. Roy, Hannah’s ENT.  He was really puzzled with the fact that it could be normal because Hannah’s ears are filled with fluid still.  So this is another test we will be redoing at the NIH.
• Gait Trainer.  Hannah gets her get trainer next Wednesday.  I am so so so excited for her!  (here is what it looks like).  She has been able to go about 40 feet on a walker during PT, so I KNOW she is going to be all over the place in this!
• Vegas move.  Finding quality medical and therapy services is a full-time job on its own!  Add to that trying to find decent schools for the kids plus a place to live plus getting this house ready to sell plus figuring out how to move…. exhausting, but exciting.
  

I think that is it for now!  Phew…

That is really what it comes down to.

At one point, we were just an easy flight away.  But now, with Hannah’s illness, nothing is easy anymore.   We have a few friends here, but I think at this point, especially since we know that Hannah’s disease course is progressive, that we all need to have our family close by.  Especially the kids.  If something were to happen, just being able to drop them off at the grandparents house or aunt and uncle’s house would just be so reassuring.   Having the kids grow up with their cousins, especially being able to see them all the time, would be wonderful.  Even for Hannah, who will have two younger girl cousins to grow up with and socialize with.

But it definitely comes at a cost.  We are leaving such a top notch medical community.  As silly as it may sound, losing our pediatrician, Dr. Bhakta, scares me so much more than I realized.  He is truly a gift to our family, someone who I know is there for our kids without question and always with honesty and an open mind.  We also will be losing the TCH infusion staff nurses, the ones who have saved Hannah from getting a port surgically implanted because of their skill and caring.   We also would be losing Dr. Roy, Hannah’s ENT, who is one of the best in the country and who truly seems to care about Hannah’s progress and care.

Las Vegas, where my inlaws live, is going to be a medically difficult situation for us.   They have no lysosomal storage disease program in any of the hospitals (of which Gaucher is one).   They just don’t have medical team with the expertise and experience that we have at Texas Children’s Hospital.  Lastly, will we even be able to find a pediatrician who is half as good as Dr. B?

We also have to start all over with Medicaid and other special needs services.  Just trying to figure out the Texas maze of how to get Hannah’s services was a chore.  Now we have to start all over again in a new state, new city.

The bright spot is that the doctors at the National Institute of Health and Dr. Schiffmann will still be our backbone and have agreed to help out however they can.  We plan to go to the NIH every 6 months, and we will be seeing Dr. Schiffmann in Dallas (just a plane ride) every 6 months.   This way, Hannah will be seen by a Gaucher expert every 3 months.   They also recommend us getting in touch with a expert team in Los Angeles that they are going to help us find.

You know, it is just such a hard decision to have made.  I know that moving closer to family is going to be such a huge and wonderful thing for our family, especially all the kids.  But I just hope I’m making the right decision and can find the right new medical team in Las Vegas to give Hannah the attention and support she needs.

It proved what Dr. Schiffmann, the Gaucher specialist, had told us when we saw him last.  Hannah’s hypersensitive gag defensive gag reflex was likely causing her gagging episodes, many of which required oxygen to help her get through them, and two that landed us in the ER after having to call 911 for hypoxia (lack of oxygen).

To understand what this reflex does, just image how you feel when you feel something caught in the back of your throat.  You cough it up.  But just imagine that you can’t seem to get it dislodged or moved.   You start gagging on it.  You start to panic as you are still gagging.  That is what was happening to Hannah — the catch?  Because her gag reflex has become so hypersensitive, the food could have already been moved and gone, but her throat kept telling her it was stuck.

So after 6 weeks of a completely oxygen-free, gag-free period (which has been quite nice!), we decided to take baby steps and try to reintroduce some finger foods back into her diet, those that had not yet caused any gagging problems earlier.  We know that goldfish, cheerios, and vienna sausages are no longer options. 

But we did try the big Cheetos many times for the past few days, and this morning we gave her some pancake.  She LOVED having her foods again, and neither of these brought up any gagging episodes.  My guess is that because they literally melt in her mouth without having to gnaw much or chew on them too long. 

She is such an oral motor child.  She ALWAYS loves having things in her mouth.  At least 80% of her playtime will show her with either a toy in her mouth or her pacifier.  At least now we can let her satisfy this oral feeding sensation with a couple of her favorites for now!  Hopefully she will not lose this ability, but for now, at least we can give her a couple of snacks to help satisfy her oral needs.

99% of her calorie intake will still be by bottle.  But at least we have that little bit of her day where she can munch on snacks and enjoy that sensation.  THAT is a great thing!

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?

We starting seeing Dr. Roy back in September of 2009, and yesterday was the third visit with him.   He noticed pretty significant laryngomalacia and some vocal cord weakness when he did his first laryngoscope (camera down Hannah’s nose while she was awake) as well as moderate reflux.   Back then, he heard the stridor sounds Hannah made when she was upset and the breathing issues when she was upset.  The trach was always in the picture, but we were able to walk away from the two previous visits with “We will review where we are in two months.”

Then we had Hannah’s multiple gagging/breathing episodes, two of which landed us with 911 at the ER.  I thought for sure we were close to having to make the trach decision.

We stopped solids and put Hannah on a liquid diet.  Not a single gagging episode in the 6 weeks that we started that.  Not even a minor one!

So when Dr. Roy came in yesterday, Hannah yelled at him.  He actually loved hearing that because he had never heard a strong vocal from her before.  We explained that she does now yell and has a stronger cry these days.  He also thought she looked really good too, which she does.

He did another laryngoscope today, and Hannah was a trooper.  This was her 5th time having that dang camera put down her nose into her throat.  But the results were GREAT!   He was so pleasantly shocked and surprised that Hannah’s laryngomalacia has significantly IMPROVED since our last visit plus her vocal cords were much more active — the vocal cord weakness has IMPROVED as well!  Her reflux is still there but definitely looks better.

We never expected an improvement in Hannah’s symptoms, especially the ones that are so closely tied to her Gaucher’s disease.  But it happened.  Her laryngomalacia and her vocal cord weakness have definitely IMPROVED.  Say it with me, IMPROVED!!  I love saying that!!!

We all agreed that we would rather have to deal with a gastric tube in feeding Hannah if it comes to that than having to deal with a tracheotomy.  For whatever reason, a G-tube just does not seem anywhere near as drastic as a trach.  Dr. Roy also agreed that a G-tube is much easier and safer to deal with than a trach.  But we are not at a G-tube yet, as long as she keeps her weight and keeps growing, we are going to stick to bottle feeding.

So all of the breathing/gagging/feeding issues we have been dealing with for the past many months have been all related to her hypersensitive defensive gag reflex, a neuromuscular nGD issue.  But no laryngospasms, no breathing issues, nothing else.  We have dodged this bullet for now (I know it may happen in the future, but for now I’m rejoicing!).

IMPROVEMENT!!  We drove him from this appointment, and I had a HUGE smile on my face the whole way home.  It was just so unexpected.  It wasn’t that I was expecting it to be much worse (though I was expecting some worsening), but to have it significantly improve?  WOW!!!

We are devastated. Our income is now based solely on my menial part-time job, which in no way could support our family, not even close. He is going to apply for unemployment tomorrow, but everyone knows that won’t even come near to what he was making. Hopefully Hannah’s medicaid will come in within the next month or so, but still —-

I don’t know what we are going to do.