Archives for June 2009

Hannah has had a really, really rough last few days.  She has been incredibly congested to the point where our last two nights were filled with her choking on her congestion, coughing, and rivers running out of her nose.  Last night, I ended up having her sleep against me sitting straight up.  Needless to say, we are both exhausted.   We also cancelled PT today, because I just couldn’t see putting her through that when she was feeling so horrible.

I took her to the pediatrician today, and she has a pretty “nasty” ear infection in the left ear and a viral infection.   He checked her lungs, every quadrant, nook, and cranny because of the fear of pneumonia.  Her lungs and chest are clear.  Thank goodness!  I asked about ear tapping for her but because she is so suseptible to infections, he wanted her on antibiotics for her ears.

I basically BEGGED him for use of a decongestant as well.  I don’t understand why it was removed for babies, but we couldn’t keep up with the nose bulb last night.  Honestly, it would have required an automatic suction machine to keep up with her last night. 

So she got her decongestant tonight, and WHAT A DIFFERENCE!  OMG, I can see her upper lip, and it isn’t a roaring river!  Hopefully she will sleep better tonight.

We go back next week for our monthly followup with our pediatrician anyway, so it will work out great to make sure she is getting rid of these infections.

We got the results from Hannah’s gaucher markers bloodwork.  These are the three levels that are incredibly raised when the patient has Gaucher’s Disease.  I’m waiting to hear back from Dr. Schiffmann on whether this is what he had hoped/expected, but they do look significantly down in just three months!

From 2/9/09 to 5/4/09:
Angiotensin converting enzyme (ACE) – 205 IU/L down to 102 IU/L  (normal 26 to 106)
Chitotriosidase (CHITO) – 636 nmoles/hr/ml down to 215 nmoles/hr/ml  (normal 4 to 120)
Tartrate resistant acid phosphatase (TRAP) – 52.1 IU/L down to 20.2 (normal 3 to 10)

During Hannah’s Cerezyme infusion treatment today, Hannah’s genetics doctor, Dr. Christine Eng, came to visit Hannah to do an evaluation.  It had been 4 months since she had last seen her.

I can honestly say that she was very surprised at Hannah’s condition.  She made the comment that (and I quote) “Hannah really looks wonderful” and that “these past four months were critical towards learning the progression of her disease.”  She made the comments that Hannah looks very nourished (not “emaciated”), her overall tone is good (except for her legs), and that she is still hitting milestones (even if they are at a delayed pace.).  She may have her “issues,” but she is still doing really good considering what the expected alternative was.

Lastly, she made the comment basically that “Hannah is going to teach us a few things.”   She wants her to get an echocardiogram because she thinks she may have heard a slight murmur, and she wants us to meet with a doctor of physical medicine.

Hannah is definitely not the typical neuronopathic Gaucher’s child.  Here we have a child who presented with symptoms in utero (which is unheard of) yet the progression is so much slower than the average nGD child who presents with symptoms early in life.