DEAR DR. GOTT: My granddaughter has been diagnosed with Gaucher’s disease. She is a 20-year-old college student and has been able to keep up with work and travel opportunities so far. Has anything new been discovered about this illness? What treatment is available? Both her father and mother are carriers, and I found that I am, too. On my side, I realized that my grandfather must have been a carrier, since both his sisters died as young women. My own doctor knows very little about this illness. I know it is rare. Please let me know if, and where, it is being studied. Thank you.

DEAR READER: Gaucher’s (pronounced go-shayz) disease is genetic, meaning it is caused by an inherited malformation. This causes a deficiency of the enzyme glucocerebrosidase, which is responsible for metabolizing the fatty substance glucocerebroside. It most commonly occurs in those of Eastern European (Ashkenazi) Jewish descent.
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