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.

Since Hannah was diagnosed, there have been six children who have lost their fight against neuronopathic Gaucher disease. 

On facebook this morning, I got a message from a dad that we have come to know really well, and he told me that their toddler child passed away just a few hours earlier.  This is a family that both my husband and I have really connected with.  We knew the child was in the end stages of the disease, but when he told me, I felt my heart being ripped out.  (I’m going to wait until after the funeral to give more details).  I just didn’t know what to say.

I haven’t been able to stop thinking about it all day.  I’ve talked with other family members who have lost their children to this disease, but I felt like I really developed a connection to this family moreso than the others.  We shared pictures of our kids, opened up our feelings to what this disease has done, etc. 

I keep catching myself starting to cry.  I’ve been very distracted all day.  I haven’t been able to let go of Hannah until now, when she finally fell asleep in my arms.

Then I got another reality check.  This disease is real.  This disease is ruthless.  This disease is painful.  It is killing our children.  There has to be a way to stop it.  I don’t want Hannah to be another victim of this disease.

One of the things that we are starting to feel is necessary is for Hannah to start socializing with other children around her age.  We don’t have any friends with young infants, so the only real experience she has had are friends of her brother and sister, who are obviously older than she is.

We can’t send her to daycare.  She has too many “issues” that would not make it safe for her to be there nor would we probably be able to have her in a regular daycare.  There are no “special needs” daycares near us, as we found out the nearest two are 2 hours and almost 4 hours away from us. 

So we are limited in our options. 

I took advantage of trying out a free MyGym class Monday afternoon to see how she would do in it.  The class was for the 7mo to 13mo babies.  There were only two little boys in there, about 7mo and 10mo.  They were so incredibly active — one was crawling all over the place, the other was waddling around.   They were throwing things, crawling up on things, going in and out of tubes. 

Hannah just sat there, holding a little ball in her hand.

As I was sitting there trying to help Hannah get to her knees just to get into a crawling position, I saw the other two moms look at me with that look of confusion on their faces.  They were very sympathetic, but it seemed to me they were looking for an explanation (I probably would too).  So I shared that she has some delays.  From that moment on, you could see the friendly pity in their faces, which even though they were incredibly sweet, it just made me uncomfortable since Hannah couldn’t do most of what the two boys were doing.

It just wasn’t right for Hannah.

After talking to my neighbor, we are going to check out Kindermusic.  Perhaps something not so focused on the physical would be a better social situation for Hannah to start with.   We are going to try out their free class on Thursday morning.  This class is geared for newborns to 18 months, so I think this larger age range would give us more flexibility as well. 

We will see how that works out!