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Letter to the Editor (Unpublished)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
