April 27, 1999
Doctors Urge Screening for Disorder

Doctors Urge Screening For Disorder
By STEVEN GREENHOUSE

The New York Times
April 27, 1999

The American College of Obstetricians and Gynecologists is now recommending that Jews of Central and Eastern European descent be offered screening to determine whether they are carriers of Canavan disease, an inherited neurological disorder that causes most children with the disease to die before age 10.

Symptoms usually appear when children are between 3 and 6 months of age and involve delays in development, poor head control and an enlarged head. As the disease progresses, it causes seizures, severe feeding problems, significant motor delays and often blindness. There is no effective therapy for the disease, which can occur only when both parents are carriers of the recessive Canavan gene.

Canavan disease is most prevalent among Ashkenazi Jews of Central and Eastern European descent, a group that includes 90 percent of the six million Jews in the United States. Medical experts estimate that 1 in 40 in this group are carriers of the disease. When two carriers have children, the risk that the child will have Canavan disease is about 1 in 6,400. Non-Jews can also be carriers of the disease, but screening tests are not as accurate for them, identifying only 40 to 50 percent of non-Jewish carriers.

Screening for Canavan disease requires evaluation of a blood sample. Testing in the Ashkenazi population will identify 97 percent of those who are carriers.

The Committee on Genetics of the College of Obstetricians and Gynecologists said that if one parent was high risk of an Ashkenazi background or with a family history of Canavan disease that partner should be screened first, ideally before conception. If that partner is a carrier, then the other partner should also be screened, whether or not he or she is of Ashkenazi background.

The genetics committee recommends that when both partners are carriers, prenatal testing through chorionic villus sampling or amniocentesis can accurately determine whether the fetus has the disease. For more information, call (212)316-6488 or visit the Canavan Foundation Web site (www.canavanfoundation.org)

This story appeared on p.F6 of The New York Times on April 27, 1999.

Copyright 1999 The New York Times Company



Letter to the Editor (Unpublished)


The Canavan Foundation President Responds

Dear Science and Health Editor,

I would like to applaud the New York Times for drawing the public's attention to Canavan disease in Steven Greenhouse's "Doctors Urge Screening for Disorder," Science Times, April 27, 1999. It is so vital that the public know about the availability of testing for Canavan disease.

To clarify a point of information: Readers should be aware that although the chances of a Canavan child are 1 in 6,400 in the Ashkenazi Jewish community (a somewhat remote statistic), every time a carrier couple actually conceives, there is a 1 in 4 (25%) chance, as there is with Tay-Sachs disease, that they will have a Canavan child. My husband and I had a Canavan daughter, and I know of more than 15 families nearby who have experienced a similar tragedy.

Please be tested!

Sincerely,
Orren Alperstein Gelblum
President
Canavan Foundation

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