About one in 20,000 children is born with a form of Gaucher’s disease, a genetic condition in which the body is unable to remove a type of lipid from cells. It affects the bones and organs. It is the most common genetic illness affecting Ashkenazi Jews; one in 450 Ashkenazi infants is born with the disease. Overall, one percent of Americans are carriers of Gaucher’s disease. That means one percent of people have one copy of the flawed gene that causes the condition. If two carriers have children, each of those children has a one in four chance of getting two copies of the gene—one from each parent—and having the disease, and a one in two chance of inheriting one copy and being a carrier.
Gaucher’s disease can be spotted in advance by genetic testing. Testing to look for the genes associated with the condition is about 70 percent accurate in the general population, higher in Ashkenazi Jews. This testing can determine help whether someone with a family history is a carrier of the disease. Carriers have reduced levels of the enzyme affected by the genetic mutation, but show no symptoms. Blood tests can also detect these reduced levels and identify carriers, particularly in conjunction with genetic testing. Couples who are both at risk are advised to get tested so they have some awareness and can know what their options are. Amniocentesis can determine whether a mother who is a carrier is going to have a child with the disease.
Though carriers of Gaucher’s disease do not have symptoms of the disease itself, there is some evidence that carriers and patients alike are at increased risk of Parkinson’s disease. The cellular mechanisms work overtime to both compensate for the damaged enzyme and get rid of the accumulated lipids and to deal wit the actual broken enzyme, which accumulates in cells as well. This extra effort leads to cell death and causes neurological damage of the sort that leads to Parkinson’s disease. There are a number of genetic mutations that can result in Parkinson’s, and very few patients with Gaucher’s disease will go on to develop Parkinson’s, but experts say it noticeably raises the risk.