I was sent an email yesterday asking why I don’t post as many updates as I used to in the past.  On the surface, the reason is because there isn’t that much going on anymore in terms of doctors appointments, testing, etc.  We know what we are dealing with now, and we just have to deal with it.

But the more I thought about it, the more it is because posting has become a real emotional issue for me lately.  I feel I have to be very careful what I say now as to not to offend anyone inadvertently (which I have for whatever reason I still don’t understand).  I have to be careful what I post research wise because much of it is not public.

I’m just tired of having to watch what I say.

But it is also because I’ve just been sad lately as to Hannah’s developmental delays.  Her learning new skills has slowed down quite a bit over the past few months.  It is just the little things like how we still have to hold her bottle to feed her 90% of the time because she can’t hold her bottle (whether it is because of the muscle weakness or her motor planning dysfunction is unclear), how she still doesn’t crawl or move more than a few feet, or the total lack of verbal communication outside of a few “Ga”s.  We have already started to lose some things we have learned such as banging two items together.

I long so much for interaction with her.   What I would give for her to understand when I ask her a question as simple as “do you want your ball,” “come here,” or “want some cheerios?”  Outside of those very few commands which I can count on two hands and have fingers left over, there is no interactive communication.

You have no idea how difficult it is until you are living it.

I’m just so thankful that she does smile and get excited when I am around.  At least I have that.  She recognizes me, and she shows me love with her cuddles, caresses, and hugs.  I treasure this.

But I’m tired of talking about it because I wish I had more positive things to share.  It is easier just not to say anything at all than keep talking about how difficult this has become.  My entire life centers around Hannah and her care.  I just wish I could take away her disease and just let her be a normal child.

The medical supply company is coming out on Monday to switch out the big portable oxygen tanks with the more compact sizes that we can refill and carry on a backpack when we go out.  Thank goodness!  Honestly, I couldn’t see carrying around a big tank like that “just in case” every where we went.  Although, I do think we will bring one with us on long driving trips as a better safe than sorry, but that will be in the car with us.

We have our date scheduled for Hannah’s nursing home stay to satisfy her requirement for the MDCP (medically dependent children’s program) so that we will have access to Medicaid, respite services, etc.   December 22nd.  We have to be there in the early afternoon, and we get discharged in the morning of the 23rd.  Yep, the day before Christmas eve.  I chose that date because the kids will be home from school.  Also, since they won’t be staying at the nursing home with me and Hannah, the kids and Daddy can have some fun in a new town that night.  Fortunately, we get two-hour leave passes a couple of times during the day, so we aren’t required to spend the entire day there, just the overnight.

It really sucks about having to think about putting Hannah in a nursing home overnight.  It is a regular nursing home facility with a wing for pediatric patients.  I’ve heard from two parents who have stayed there now to fulfill this requirement, and they both say it is just something you go through, get it down, and it is over.  They both said it isn’t the worst nursing facility they have seen, but…

Yesterday we were looking through Ethan’s first scrapbook I made him when he was about 18 months old.  He was holding a spoon by then, running around, playing catch, talking, coloring.  Then I looked at Hannah who still has the cognitive and communication of an 8-month-old to an 11-month-old with very little progress in the past four months. 

Being hit with her delays again as well as dealing with oxygen tanks and this nursing home thing… it is just a stark slap-in-the-face reality check of this crappy disease.

We seemed to have entered a new phase in this journey.  I guess it was inevitable considering her diagnosis.

After having a 45-minute visit with our pediatrician, we both agreed that we need to have some backup assistance when she has another breath-holding spell.   We can’t have the racemic epinephrine breathing treatment they gave Hannah when we got to the ER, but we can give her some powerful oxygen flow to help get her oxygen up which would likely help her calm her breathing sooner than later. 

After getting the prescription for “portable oxygen”, dealing with our insurance company (we only have to pay 10%), and then finding a medical equipment provider, our equipment was delivered this evening.  I was expecting something like a hand-held breathing treatment, but that is definitely not what we got. 

We received the portable home oxygen concentrator to the left.  This comes with a 50-foot tube and has a nasal canula attached (the nose prongs).  We also got a full-sized oxygen tank (5 feet tall with stand) to be used if we run out of power and can’t use the concentrator.

Lastly, we received five “portable” oxygen tanks.  They are almost 4 feet tall, and they come with a cart as well.  Definitely what I was not expecting!   I can’t see this being very “portable” for our needs, so I’m going to call the medical equipment company to see what other options there are.  I was hoping for something we could fit in a large diaper bag or something like that.

We also are required to put a “no smoking, oxygen in use” sign near our front door.  I guess if there is a fire, the fire department would immediately know there are oxygen tanks in our house.   Thank goodness my hubby and I aren’t smokers, so we don’t have to worry about the “no smoking” requirement for being in-house.

Hannah had another episode this afternoon before the equipment got to our house.  Fortunately I was able to get her calmed down before she turned blue.  But during the entire episode I kept thinking, “OMG, not again.”  But I took the tips from the 911 operator (like taking her out in the cold, trying to sing to her, redirect her, etc.).   I don’t know if it would have gotten as far as it did again, but I definitely was wishing I had the oxygen then.

But it is here now.  It is very eerie having the equipment here in the house.  It is our first real “Hannah is not a healthy child” piece of equipment.  I don’t know why it just hits me so hard to see it there.

We made it 16 months without a hospital visit since Hannah was born. 

Hannah had these hyperventilation episodes when she gets upset or frustrated.  It doesn’t happen often, although it seems to be happening a bit more now (mostly when we are driving long distances and she gets antsy or when she starts throwing a tantrum).  There were also about 3 episodes where she would start choking on a piece of food (cheerios, goldfish, or vienna sausage), and she would have what seems like a panic attack and stop breathing for about 30 seconds or so even though the food has been dislodged.  During both the hyperventilation episodes as well as the panic attack episodes, we would just hold her and cuddle her, and she would calm down.
 
This afternoon, she started choking on a cheerio while sitting in her high chair (I think).  She started panicking, and she went into another one of her episodes where she starts freaking out and stops breathing and acts as if she is choking.  I wasn’t able to calm her down this time, and a few minutes into it, she started turning blue around the mouth, so we called 911.

It was just me with Abigail and Ethan.  Ethan was freaking out a bit, and Abby just sat there eating her chips almost trying to tune it out.  I felt so horrible for them, even though I was trying to act very calm.  By the time the paramedics and firemen came (a big truck and an ambulance) and it was decided to take Hannah to the ER, I sent the kids over to my neighbor’s house.  Looking back, I probably didn’t handle that the right way, but I was really scared at that point.
 
In the ambulance, her O2 sats were down a bit (I believe between 92 and 95), and she was still acting panicky and trying to catch her breath but also very upset.  The paramedics suggested we take her to the ER with lights and siren to get her checked out.  By the time we got to the hospital, she was calmed down, 02 sats were better, but she was a bit lethargic for about 5 minutes.  She calmed down completely while they gave her a breathing treatment (may or may not have helped) and came back to complete normal a few minutes after that.  Then she fell asleep for almost 3 hours there.  Chest Xray was clear.
 
The paramedic who was in the ambulance with her said it was almost like she was having a seizure, but she wasn’t.
 
Long story short, the ER pediatrician believes she has breath-holding spells with seizure-like activity based on her history and today’s event.  She also believes that because she has the weakened vocal cords and laryngomalacia, it may or may not have exacerbated this.  After reading this Webmd article, this sounds exactly like what we have been seeing for the past few months. 
 
The ER pediatrician put her on an oral steroid for three days because she was concerned about inflammation “just in case.”  Also, she believes Hannah may have croup, but she is not sure.
 
She is back to being completely normal acting now, back to her happy self with normal breathing.

I have absolutely no idea whether or not this is related to her Gaucher’s disease or perhaps it is just exacerbated by it.  Or maybe it isn’t even related at all to it, and it is just another something we have to deal with.

Regardless, because of the severity of what these spells can bring, we have had to prepare ourselves for more 911 calls and ambulance rides to the ER because of it.  We also warned Ethan and Abigail that she has this condition, and it may happen again.  We need to work on an actual plan in case something like this happens again.

My inlaws have come down to visit us for the Thanksgiving holiday weekend.   It has been a wonderful visit so far.  Abigail and Ethan have loved it most of all because they have been spending all their time with their grandparents.   It has been SO good for them to be able to get away from the house and be pampered and focused on, including spending each night at the hotel with them (swimming, playing tennis, playing board games, doing nails — well, Abby anyway!).    We even got a chance to get our Christmas and Hannukah shopping done this morning with my hubby and father-in-law hitting Wal-mart Black Friday at 5 am today, and my hubby and me hitting Toys R Us later that day (with Hannah).

It has also been a great opportunity for them to get to know Hannah because it has been almost a half year since they have seen her last.   Even though Hannah has been incredibly shy with them (as she is with everyone), they have gone out of their way to interact with her, spend time with her, and just play with her.  

A few weeks ago, my husband’s brother and sister-in-law and their two kids came to visit us as well (they couldn’t do thanksgiving with because of work schedules).   My nephew is 7, and my niece is just 9 months old.   I loved watching all the kids playing with each other, and I loved being able to share Halloween with them.   Just having my sister-in-law’s company was a refreshing change, even if it was just hanging out sometimes and watching the chaos that our kids created together.

Tonight my hubby and I talked about travel plans for next year.  We have the NIH visit in January.  But when it comes to being able to fly out to see them, we just have no clue where we will be in a few months’ time with Hannah’s health. 

I’m already nervous about flying to DC for the NIH due to her recent hyperventilation and choking/panic spells that are becoming more frequent (a few times a month now).     We are planning to see how well she does going to DC, and that will determine if we take any future unnecessary airline trips in the future.    Sadly, I keep thinking that her health today is “as good as it is going to get.”

One step at a time.

Would you give just two “clicks” of your time to help Hannah?  Chase Financial institution is giving away $25,000 to charities based on the number of votes they get.  

When you have such a rare disease like nGD, you don’t have the support (financially and people-wise) that the bigger causes do.  Here is our chance to get a real piece of support financially and in terms of people learning about nGD.  Do you have any idea what $25,000 would do towards research and support for Hannah and the other kids with neuronopathic Gaucher’s disease?  It would be a HUGE start!!

Please just take a moment, two clicks of your time, and vote to give us a chance at this huge gift?  (And please tell your friends)