Hannah is finally napping right now. 

She is so terribly congested that consistent sleep has been elusive these past few nights.  After her first rough night, we have had two more of them.  So we have an appointment to see our pediatrician this afternoon. 

I am so fearful that this is the beginning of something terrible, like needing to go ahead with a trach, or laryngospasms, which are pretty common in nGD children, especially type 2 kids.   I keep hoping that it is something simple like just really bad reflux mixing with the congestion or something. 

I honestly have no idea.  All I do know is that she will wake up suddenly, panicked, as if she can’t breathe.  I hear her upper stomach or lower chest grumbling a bit on occasion when it happens.  The episodes only last anywhere from a few seconds to last night’s episode at 2 am that lasted almost a minute and freaked the hell out of my husband and I.  As I was holding Hannah in her room during that episode, I was thinking “do we call 911 now?” 

We are all exhausted.  I could have crashed at 6:30 pm last night, but with three kids, that didn’t happen.  I’m on incredible slow motion today.  I can’t even imagine how my husband is functioning at work right now, as he has been up all night too.

I have no idea what to expect after this afternoon’s appt with Dr. B, our pediatrician.  Hopefully, it will just be something simple and “normal” (in terms of baby stuff).  But then there is another part of me that says, “this disease is progressive, it is going to happen at some point, this may be the point.”  I just don’t know.

I’m so hoping that last night was just a fluke and not an indication of things to come.

Hannah has been just a bit congested since yesterday morning.  Nothing dramatic, just a slightly runny nose here and there.

During her morning nap yesterday, she would only sleep about 20 minutes in her PackNPlay before waking up.  I’d pick her up, and she’d fall back asleep on me immediately.  I’d let her sleep on me for about 10 minutes, and then I would put her back in her PackNPlay.  Again, 10 to 15 minutes later, she would wake right up.  So I picked her up and let her sleep on me again.  On me, she slept another 90 minutes long.

Then during her afternoon nap, she was pretty uncomfortable as she was trying to sleep.  As I was letting her fall asleep on me, I could hear the congestion in her chest somewhat.  It wasn’t like a normal congestion, but it sounded up a bit higher than what I have heard in the past with me and the other kids.  Twice, she woke up really startled, panicking, and acting as if she couldn’t breathe for just a second and then she would start swallowing really loudly.  This lasted for about 30 seconds each within a 90-minute period when she slept on me (while Ethan and Abigail were watching TV).

Last night, she didn’t fall asleep until almost 11 pm (usually, she falls asleep around 9:30 pm).  She seemed really uncomfortable, and she had another slightly runny nose, which was clear.  My husband fell asleep, so I let Hannah just sleep next to me while I was working on my laptop in bed.  Around 11:30 pm, she started with those panicking, startled, swallowing spells.  She would be completely asleep, wake up and sit straight up, and then when it would pass about a minute or so later, she would fall right back asleep. 

About midnight, I put her into her crib.

They started happening every 10 to 15 minutes for a while, and I was really starting to get nervous.  I couldn’t figure out what was going on.  She was breathing fine during them, as I could feel her breathing when I had my hand on her chest (plus she just got the “all clear” from the pulmonologist just two days earlier), but she acted like she couldn’t breathe.  Then I was thinking it must be related to her laryngomalacia and her cold perhaps?  You know how you swallow when you have mucus in your throat to get it down?  Maybe that combined with her reflex made it really sting or cause pain?  The humidifier in her room wasn’t working for some reason. I had no clue.  I kept thinking during the middle of it, “is this the beginning of the end?” and freaking myself out.  Do I need to take her to the ER?  Would they have any clue what to do or would they just go for the obvious on a child where the obvious is wrong?

Finally, around 1:30 am, I brought Hannah back in my room, and I sat there with her in bed.  She slept against me in a sitting position, and sure enough, she didn’t have any more of these episodes.  My husband woke up, which I was glad, because I wasn’t sure what to do.   Obviously, sleeping upright made her more comfortable.

When we tried lying her down again, she had one more episode.  So we got out the carafate (reflux med) and gave her some just in case it was reflux related.  We also found this plug-in vapor treatment in the kid’s bathroom and plugged it in her room.  We tried a couple of pillows in her crib, but ended up just using a couple of blankets wrapped together because that height was perfect. 

About 2:30 am, she had finally been asleep for more than 15 minutes in her crib.  My husband went back to sleep, but I had to stay up and make sure she was okay.  I finally drifted off around 3:00 am.  She had a couple of more episodes during the night that I woke up hearing on the monitor (and going into her room), not anywhere as intense as they had been earlier, before my husband woke up with her at 7:00 am.

She has been a bit more exhausted than normal today, for good reason.  She is on her second nap right now.  She hasn’t had anymore episodes at all today and has been acting like her old happy self.   I’m anxiously nervous about tonight.  We’ll see what happens.

It has been so incredibly busy for the past two days, and the next two days are just as busy!  Taking care of Hannah and her appointments/therapies really has become a full-time job lately.  Leaving the house in the morning and getting home MINUTES before Ethan and Abigail’s bus gets here from school.

Anyway, we met with the pulmonologist, Dr. Timothy Vece, regarding Hannah’s breathing situation.  He agrees with Dr. Roy (ENT) and the NIH team that her breathing issues is caused by a combination of her vocal cord paresis and her laryngomalacia.  Her pulse ox was at 100%.  She had a crying episode during this visit, and he was able to listen to her lungs during it.  Her lungs sounded clear. 

He wants to take a look at the CT Chest scan done at the NIH that documented interstitial lung disease with no clinical findings and follow up on that end of things. 

But other than that, he just wants to follow up with us in 6 months — sooner if something should come up.  But her lungs look clear for now!  No clinical Gaucher disease involvement, which is great news, because some neuronopathic Gaucher kids can have moderate to severe involvement of Gaucher disease in the lungs.

Finally, something (the lungs) we can just not worry about for now

As many of you know, Genzyme (the company that makes Hannah’s biweekly infusion of Cerezyme) had to shut down production of Cerezyme back in mid-June.   At the time, it was determined that the children with neuronopathic Gaucher’s disease and other type 1 children under 18 years old (as well as those with type 1 in a life-threatening siutation) would continue to receive infusions.  Unfortunately, this left thousands of patients without infusions for what we thought was going to be just a few months.

The situation seems to be more severe than originally thought, and it could be 6 months before there is enough production for all the Gaucher patients in the world.  On a side note, this has led two other companies to be able to fast-track their Gaucher type 1 drugs through the FDA.

There is a “rumor,” and I stress again, it is JUST A RUMOR, that now there may not be enough drug for nGD and type 1 kids.  Until I hear from my contact at Genzyme, I am not going to believe it.  There have been so many rumors since this whole thing began that I just have to hear it “from the source.”

But what does scare me is the backlash and snowball effect from this Cerezyme shortage.

I had been working with the National Gaucher Foundation to see if we can start pushing type 2 and type 3 research.  Things were going great for a few months, and the NGF was incredibly receptive and gung-ho with this idea.  A plan was starting to really come together. 

This Cerezyme shortage has changed everything.

The NGF is going to be unable to focus on this type 2 and type 3 research plan until, possibly, the end of the year.  I completely understand why, as they are incredibly overloaded with not only thousands of patients who are up-in-arms about not receiving their treatment, dealing with media regarding this, but they are now thrown into the middle of all this fast-tracking of the new Gaucher type 1 drugs through the FDA.   I don’t blame them at all — just trying to understand this craziness from a patient’s point-of-view is terribly confusing – I can’t imagine dealing with thousands of people like me looking for answers.

But where does this leave Hannah and the other neuronopathic Gaucher kids, the type 2 and type 3 kids?  There is hardly anything out there for us, and what is out there is so scattered and hard-to-find.  What we were coming up with could have made a difference in the organization and advancement of the research. 

But now we just have to wait… wait for this Cerezyme shortage fiasco to come under control, which could be many months from now.

I just hope that we have the time to be able to wait.