Finally, some positive news!!

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.