Archives for May 2011

We made it to physical therapy today.   We haven’t been there in 3 weeks because of the Disney trip and then the subsequent trachiitis that knocked her out.

When we got there, Hannah’s PT brought us into a side room and told us that their corporate office is becoming more strict on missed sessions.  Reality is that we only go to PT when Hannah is awake and up for it.  There is no reason to wake her up or go when she isn’t feeling well because she won’t do anything except cry and get upset.

Our PT’s office has been really understanding since day 1, understanding the fragile nature of Hannah’s condition and the reasons why she can’t always make it.   But apparently their corporate office is not so understanding.

Her PT suggested strongly that we go to “on call” status.   Basically, I call on Monday mornings and see what cancellations they have (which seems to be quite a few) and pick a time that would work for Hannah.  This actually would work well for us because it gives us the opportunity to get her speech, OT, and PT if there is availability instead of just PT.

It isn’t the most ideal situation because she doesn’t get a set therapy time, but the reality is that she can’t keep a set therapy time no matter how hard we try.  She will only do well in therapy when she is feeling well.  We can’t tell her to suck it up or make her do anything she doesn’t want to because she just can’t comprehend that.

We still have our twice monthly PT with early intervention which has been wonderful and we are hopefully going to get twice monthly OT through early intervention (now that they have hired more OTs).

It isn’t enough therapy for her.  But we only have so many options because of Hannah’s tolerance.

We have our school district evaluation next week which will include PT, OT, and speech.  It will help the school district, Daddy, and I come up with a good IEP plan for Hannah when the school district takes over her care in August.

Not thrilled with not being able to get her regular therapy services, but we are having an incredibly difficult time finding home therapists who will work with Hannah here.   Because we have primary private insurance and only secondary medicaid, we can’t find anyone who will take private insurance.   If she had primary medicaid, we would have quite a few possibilities.  But for now, it really is up to Daddy, Hannah’s nurses, and I to therapeutically work with her for the most part.

I have been emailing with a few families over the past couple of weeks who have children that have been newly diagnosed with neuronopathic Gaucher’s disease.

One mom asked me if she should “hold out for hope for a treatment to save” her child diagnosed with type 2.    Another dad I emailed with described one of the top experts he had seen as a supposed “savior” for his child when that person said there was really nothing that could be done.

As I watch Hannah’s condition deteriorate over the past few months, I am losing the idea of hope.  I am very realistic to know that it is very unlikely that there will be a treatment found to save Hannah.  As much as I wish I could change that, reality is that there is so little money going into neuronopathic Gaucher research and so few researchers working on this form of Gaucher’s.

What can I say?   How do I try to provide support for a family grasping for hope when I am watching this disease take away my daughter’s mobility, agility, and ability to do even the most basic of infant skills?  I don’t want to take away what hope any family may have but I also feel that families need to be realistic with the diagnosis, especially those with type 2.

This is a cruel disease.   We have to squeeze quality time out every moment that it becomes available because each month that passes we realize that this disease is taking more and more control over Hannah.    She is losing her ability to have fun, to play with her favorite toys, and even to interact with her iPad on special apps (thank goodness she can still watch her Wiggles).

I will not give up on trying to find something, anything to help Hannah and the other nGD kids.  But with the very real possibility that Hannah is going to need supplemental oxygen in the very near future, I honestly feel like we are losing this battle and are heading into even more complicated territory.

I find my heart breaking more and more these days.

Shortly after I posted my blog last night, we went into crisis mode with Hannah.

She was so congested in her trach all of a sudden that she would wake up choking and then go into a breath-holding spell out of panic.  Even if I was able to clear out her trach, she had problems relaxing right after so she would start to turn blue because of the breath-holding.  She was incredibly junky with her trach, and very quickly the aspirate was thick, gooey, and brownish-green.   She had three episodes like this within about 2 hours.

Infection.

She would fall back to sleep but still be breathing pretty shallow.  You could tell she was working harder than normal to breathe while she was sleeping.   She had no fever, but with such a rapid onset of infection coming from her trach, I started to worry about pneumonia.

After all, it was one year ago this week that Hannah developed the pneumonia that put her in the hospital for six weeks and put our lives in hell and changed her life forever.

Daddy and I contemplated from about 12:30 am until about 2:00 am whether or not we should take her to the ER.  We brought her downstairs where the oxygen concentrator and pulse ox were, and for about an hour, we concentrated on keeping her suctioned and giving her supplemental oxygen (5 liters pushed through a mask).   Before we gave her oxygen, her O2 sats were hovering between 88 and 91.   With the oxygen, she was at about 94 to 96 and much more comfortable.

So we made the decision to ride it out until the morning (a few hours later) to see how she was doing.   Deciding to go the ER around here is a delicate balance and not an easy one.   1]   We know that she could catch something else (like how she got rotovirus and cellulitis last time), 2]  We have Ethan and Abigail at home so we don’t want to unnecessarily scare them about her condition, and 3] We go through our heads “what could they do that we can’t”.

Daddy and I switched roles at around 5 am, and she seemed to be stable.  Definitely requiring oxygen and lots of suctioning (where we usually rarely ever have to suction her), but much more comfortable and no more breath-holding panic spells.   So I took a quick nap for a few hours since I had been up all night.

Since our pediatrician’s office is not open on Sunday (which also happened to be Mother’s day), we decided to take her to the ER on a non-emergent basis.   We weren’t sure if we were dealing with pneumonia or just trachiitis or even possibly a UTI.  We wanted to get her a chest xray, blood work, and get her some antibiotics.  We didn’t want to wait until Monday, so we went to the ER.

Because we did it later that morning and in a more relaxed setting (not an emergency), we were able to explain to the kids why we were taking Hannah in (mostly that we would do it at her pediatrician’s office if they were open, but since they aren’t, we just wanted to get her checked out and get some medicine).  We don’t want them to worry unless there is something to worry about.

Even though we were taken back immediately when we got to the ER, we were there for almost 7 hours because they were so busy.   Her chest x-ray was clear, and since there was no fever, there is likely no pneumonia.   Her bloodwork came back with an elevation in her white blood cells at about 17,400 so there was definitely an infection.   Her urinalysis came back clean, no UTI or anything else worrisome.

The ER doc wanted to admit Hannah because of everything going on (we talked about the last few weeks), but we decided to bring her home and let her pediatrician follow up tomorrow and her neuro to follow up on Tuesday.   After explaining to the ER doc (who was very interested in Hannah) that we have a mini-hospital at home (oxygen, pulse ox, home nursing), she also agreed that since there isn’t anything they would do different in the hospital that it would be okay to take her home since it is presumed we are dealing with a bad trachiitis at this point.

They gave her some IV Cipro before we left, and we  have a prescription to continue with the Cipro for another 10 to 14 days.

We came home, and she has been doing much better tonight already.   She and I are downstairs tonight because we still have her on supplemental oxygen until we can get through this thick gook.   I have been doing a lot of suctioning, but not as much as last night, and no more panic-breathing attacks from her.   I really think the IV Cipro definitely kick started the recovery process because she is just so much more comfortable tonight.

So I ended up spending my mother’s day at the ER (since we left at almost 7 pm).   But you know what, that is okay.   Because at the end of the night tonight, I had all three of my babies at home with me.    That makes today a Happy Mother’s Day.

I remember taking this picture back in January.  Hannah was sick, just not feeling well.  If I had taken a picture of her today, it would look very much the same as this one.

It started a couple of months ago.  We noticed she wasn’t herself, but it was not very noticeable.   Then a week before our trip to Florida, we noticed that she was really “under the weather.”   Now that we have returned, she still is not herself, but she is getting worse.

She has stopped crawling.  She has developed significant ataxia (balance problems) to the point where she can’t even sit up unassisted without falling over.  Worst of all, her movement disorder is the worst we have ever seen it, even with the increase in Klonopin.

She doesn’t want to play.  She only wants to be held and cuddled.  On the rare occasion, she will sit and watch her Wiggles on the iPad, but even then you can see her struggle (and sometimes fail) with her balance.

Something is going on.

We had one of our favorite backup nurses who we haven’t seen in a few months today.   She commented on how much different Hannah’s disposition is between the last time she saw her and today.  “She is like a totally different child.”  And not in a good way.  She reminded us that just since her last visit in early March, Hannah was crawling from one side of the room to another and that she “had to chase her around the room.”

Her trach gook has been clear this entire time up until tonight when it started getting cloudy.

So what is causing this rapid deterioration?

An infection?   Progression of the disease (but this fast?)?  Could the increase in Klonopin over the past couple of months be causing these ataxia problems (which is a possibility)?  Combination of any of the above?

We got an emergency appointment with her neuro for Tuesday, but I think we may even check in with her pediatrician on Monday.   Something just isn’t right, and I just don’t know what it is.

I knew this trip was going to be hard on Hannah. After all, she isn’t used to having such jam-packed days in a row like we did in Florida.

But I didn’t expect her to catch a bug of some sort.   She has been running a low-grade fever for a couple of days (today being the first fever-free day) plus she just isn’t her playful self just yet.  She really just wants to lie down and be cuddled all day (with the exception of sitting up to watch her Wiggles on her iPad).  She is just really exhausted.

Her Tuesday thru Thursday nurse has been absolutely wonderful with trying to slowly get her back into a routine.   She has been putting on her DAFO braces twice a day for 30 minutes, and Hannah has done really well in tolerating it even if she isn’t bearing any weight these past couple of days.   Hannah has no interest in the stander at all and very little interest in sitting in her chair.

I got an email from the guy who ordered our stander, and it is ready!  They just have to make sure it fits Hannah’s size requirements, and then they will bring it out to us.  You know, I can’t even remember what color we ordered…that is how long it has been!

Tomorrow and Friday are more easy days for Hannah.  No appointments except for her Early Intervention specialist whom Hannah just loves so it will be more like playtime than work.  Also, thanks to a wonderful generous donation by my friend Julie, we are able to order Hannah some of the therapy items we have been longing for this past year including a special needs swing and therapy bench!

We got the keys to our new house, and we went by after school with the first of many loads of boxes to deliver.  We figure the more boxes we move ourself, the less money we will have to pay movers if they just do the big furniture-type stuff.

As for me, I think I’m coming down with something too.  I have had the beginnings of a sore throat all day, and I’m starting to feel like ick.   Great timing, no?

I am hopeful that with this week of Hannah just resting and slowly getting back into a routine that she will want to be more active next week!