Archives for September 2009

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!

I never realized how much of an impact the NIH trip had on me until recently.  

I went from feeling like her condition was so serious that we would only have a few months left with her (type 2-ish) to feeling like maybe this disease isn’t progressing as fast as I had originally feared.  Maybe, just maybe, we would have a couple or even a few years with her instead of a few months.   Maybe being so unique, not fitting the “classic acute or chronic neuronopathic Gaucher disease” child (from the NIH report) will give us more time than the average child who presents with symptoms of nGD at birth.

Last week, I was waiting with Ethan and Abigail at the bus stop in the morning.  I remember thinking to myself, “I wonder if Hannah is ever going to be able to ride the bus, or will we have to do a car-rider for her because of her disabilities.”   Walking back to the house after they got on the bus, I realized how HUGE this was in terms of my change in attitude towards her prognosis.

There have been so many times that I have not even let myself think of Hannah being here to go to Kindergarten and going to the same neighborhood school that her big brother and sister are going to now.   It would always stab at my heart because, then, I just felt she wouldn’t make it a few years, let alone a few months.

But I realize now that I am planning for Hannah’s future, albeit a few years not a lifetime.  I’m slowly trying to wean her away from needing me every single second, and I am slowly trying to help her gain more independence.  Well, as much as I feel comfortable with (which is still probably nowhere near I did when Abby and Ethan were this age).  She still needs me for so many things that a on-track 13-month-old wouldn’t need.

But I am planning for her to get to Kindergarten.  Somehow.  I have hope now.  Real hope.