Let’s put Type 1 back on the table! (Though it still could be type 3)

Email response from the expert back east — God love this man for giving us so much help and insight without even asking for a cent!

Type 3 is indeed pretty rare. Estimated frequencies are about 1:100,000 or perhaps less. Type 3 is also no more common among Ashkenazi Jews than in the general population. At this point, I don’t see a compelling reason to assume that Hannah has type 3 disease. The fact that the enzyme activity in the fibroblasts was zero is of concern, but, on the other hand, the activity in the white blood cells was not nearly so low. These discrepancies based on cell type tested have been previously reported and don’t necessarily correlate with the classification of Gaucher disease. The most sensitive test for detecting type 3 disease is an evaluation of certain eye movements called sacchades. Normally, when a person is asked to gaze from right to left, the eye ball tracks pretty quickly. In patients with type 3 disease, the speed of tracking is reduced or the movement is delayed. If the eye movements are normal, to my knowledge, type 3 disease is not present. I don’t know, however, how early in life this can be detected or whether if Hannah has normal movements now, whether it is possible that she could develop the abnormality when she gets older. Dr Schiffmann is particularly expert in these types of measurements. By the way, even type 3 disease is very heterogeneous. There are some patients whose neurologic abnormalities are confined solely to the eye movements and there are a few type 3 patients in the Gaucher Registry who are older than 50! Of course, it is true that the course is much less favorable in some others.

Look forward to learning of his opinion after Feb 12.