Archives for December 2009

Daddy, Hannah, and I went up to Dallas yesterday to meet with Hannah’s neurologist/GD specialist, Dr. Schiffmann.   We last saw him about 4 months ago.

It is about a 4-hour drive to get there, and Hannah has really showed us how much she hates road trips in her car seat.  On the way up, we had two hyperventilation episodes (one requiring us to get off the freeway and calm her down).   This was even WITH her favorite Wiggles and Mickey Mouse DVDs.

The way home was much more difficult, as there were numerous times she would just burst out crying and start the beginnings of her hyperventilation episodes.  One time, she went into a full-blown breath-holding spell, ironically as we were getting off the freeway anyway for a pitstop.  While we were on the off-ramp waiting to turn at the light, I ended up just grabbing her out of her carseat and holding her in my lap because it was safer than pulling her out of the car on the off-ramp with cars behind us at night.  Not the safest thing, but I’m glad I did because I was able to calm her down once she was cuddled up on me and in my lap.  Daddy drove VERY carefully since we were both worried about getting a ticket!  We stopped just a couple of blocks after that.

I’m so angry that I didn’t pack the oxygen.  That is what it was there for!  We will never make this mistake again, I can assure you.

The meeting with Dr. Schiffmann was good.  Being able to learn from him and his experience with other nGD kids is so incredibly valuable.  On top of that, he is such a sweet and caring man!  He spent about 90 minutes with us.

We talked about her new food choking and gagging, and he feels that this is (I’m probably saying it wrong) a “hypersensitive defensive reflex” due to continual brainstem dysfunction.  He says that quite a few nGD children have this.  He isn’t concerned about her progressing with her types of foods at this point (stage 2 and puree) as long as she gets her nutrition, as it is better than having a feeding tube.  I also feel that on top of this, she is being more aggressive with her snacking by hand (more willing to put snacks in her mouth) so this is also part of our increase in these spells.

He seemed concerned that she isn’t developing new skills as well as she was, but he also made it a point to say that he doesn’t see any regression as well.  But at least she is still gaining skills.

I made the mistake of asking him if he feels that she could be “typed” at this point, and he still feels that she is “more of a type 2 than type 3.”  Breath-holding spells are more common in type 2 children, and her feels that her abnormal eye movements are actually worse than when he saw her list (which I find strange since according to the neuroopthalmologst at the NIH, Hannah’s was the worst he had ever seen in a nGD child).

So that is what has been sitting in my brain since we left Dallas — “more of a type 2.”  I was up all night last night getting depressed about it.

I should have never asked…some things are better left not talked about.

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.