Cerezyme is the enzyme replacement therapy that Hannah is going to start hopefully soon. I’ve been doing some research on it, and I have found quite a few opinions on blogs and the news about it. Pretty disheartening knowing that she is going to have to be on this for the rest of her life. […]

This was the test result from the fibroblast… HETEROZYGOUS 84_85insG MUTATION This is the fibroblast results Beta-D-Glucosidase/Gaucher Disease SAMPLE ACTIVITY mmol/min/mg protein PATIENT RESULTS 0 Normal Control 1 4.1 Normal Control 2 3.5 Affected Control 0 Control Range 3.0-10.0 N/A=not available Source: SFC INTERPRETATION: DEFICIENT: This is diagnostic for Gaucher Disease in this patient. According […]

I’ve done so much this morning, but I have so many other things in my head that need to be done too. My head is just spinning! I don’t think this has all soaked in yet, which is probably a good thing. 1] Talk to Aetna, our insurance company this morning. They are going to […]