By Karen A. Grinzaid
Fourteen years ago, the U.S. Senate designated September “Tay-Sachs Disease Awareness Month” in an effort to promote recognition of this fatal genetic disease as well as the genetic screening opportunities available.
Tay-Sachs is a disease that afflicts many families, particularly Ashkenazi Jews, with 1 in 30 Jews of East European descent carrying the recessive gene for the condition. It is crucial to spread awareness about this devastating disease while also providing information on the tools available today to help prevent it among Ashkenazi Jews and other affected populations.
Tay-Sachs is a rare, inherited genetic disease mainly affecting infants and young children. Babies born with Tay-Sachs usually develop normally during their first few months of life. But as the disease progresses, they begin to regress due to the absence of the enzyme HexA, which causes excessive accumulation of specific lipids in the brain and nerve cells, resulting in progressive neurological damage.
The children become blind and deaf, suffer from seizures and have respiratory issues. Children with Tay-Sachs often die before the age of 5.
There is no cure for Tay-Sachs, but genetic testing and counseling allows people to determine if they have an increased risk of having a child with the disease. One in 300 people in the general population are carriers. When both parents are carriers, there is a 25% chance with each pregnancy that a child will be affected with the disease.
For the small percentage of couples at risk, there are many options to help them have healthy children.
Who Should Be Screened?
While Tay-Sachs disease is more common in Ashkenazi Jews, anyone can have an affected child. Carrier screening for Tay-Sachs and other diseases is relevant to anyone planning to start or grow their family, whether they are Jewish, in an interfaith relationship, or non-Jewish.
Why is Tay-Sachs More Common Among Ashkenazi Jews?
The increased risk of Tay Sachs disease among Ashkenazi Jews is due to a higher frequency of three Tay Sachs disease mutations in this population. The Tay-Sachs gene is much less common in other populations and does not appear to be as strongly linked to those ethnic groups.
However, it isn’t clear exactly why some populations have higher frequencies of diseases such as Tay-Sachs. It may be due to environmental factors as well as genetic ones (such as differences in lifestyle).
Screening for Tay-Sachs — and other diseases common among Ashkenazi Jews such as Gaucher disease or Canavan disease — should be offered prior to pregnancy so prospective parents can acquire information on their carrier status before making decisions about family planning.
Screening for Tay-Sachs Disease
Genetic screening is important for couples planning to have children. If both partners are carriers of the Tay-Sachs gene, there’s a 25% chance they’ll have an affected child with the disease.
Because approximately 90% of Tay-Sachs carriers are unaware they have the gene mutation, genetic screening can help ensure an early diagnosis and treatment for both parents and their newborn baby. Genetic screening can help you make informed decisions about pregnancy and family planning.
Carrier screening prior to pregnancy is most advantageous since it enables a couple to do research, seek resources and make an informed decision while having the greatest number of reproductive options.
Genetic counseling is strongly recommended prior to carrier screening. A genetic counselor can explain testing options, interpret test results, facilitate decision-making and assist with insurance coverage.
The availability of nonprofits like the Atlanta-based JScreen make it more accessible than ever to get screened for Tay-Sachs disease, while simultaneously providing necessary genetic counseling so prospective families can discuss their results and the options available for family planning.
“A simple at-home saliva test can really help families avoid heartbreak,” says Karen Arnovitz Grinzaid, a genetic ounselor and JScreen’s executive director. “JScreen is there every step of the way to provide essential information about Tay-Sachs and other diseases, and to help prospective parents make decisions about the future of their families.”
A Brighter Future Ahead
JScreen testing prior to pregnancy helped Philadelphia residents Andrew and Molly Davies make informed decisions about their future children when they learned they were both carriers of Tay-Sachs.
“We relied on JScreen’s testing and counseling to make the most informed decision about building a healthy family,” they said. “Plus, having this knowledge and support even before we were ready for kids allowed us to mentally, emotionally and financially understand how we needed to prepare. Ultimately, we decided to pursue [in vitro fertilization] and screen our embryos for Tay-Sachs prior to implantation.
“The journey was a long one, but we finally welcomed a beautiful, healthy baby into our family. We are so grateful to the team at JScreen for their continued guidance and support.”
For information, visit jscreen.org.
Karen A. Grinzaid, MS, CGC, CCRC is the executive director of JScreen, a national online genetic disease screening program based out of the Emory University School of Medicine in Atlanta.
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