Bonnie and Barry Davis were over the moon when they had their first child, Adam, a happy baby with an easy smile. “We thought we had a perfectly healthy newborn, and everything seemed fine,” Bonnie, who lives in Portland, Ore., told JNS.

Within a few months, however, it became clear that Adam was not meeting milestones associated with children his age. The family’s pediatrician assured the couple that Adam was just moving at his own pace. But Bonnie was convinced that something was wrong. That feeling intensified as she searched for answers to why her son couldn’t sit up and reach for the Cheerios she put out for him.

Bonnie and Barry didn’t know then that they were both carriers of the genetic disease Tay-Sachs, which is more prevalent among Ashkenazi Jews.

“A lot of Jewish people will hear about Tay-Sachs when they are growing up or in college, or their rabbis will advise couples to get tested, but we didn’t,” Bonnie said. “Even the American Gynecological & Obstetrical Society says that doctors are supposed to offer testing for Jewish couples, but we weren’t.”

Today, she serves on the board of the National Tay-Sachs and Allied Disease Foundation and spoke with JNS ahead of Tay-Sachs awareness month, which is held in September.

No Cure, No Treatment
At 15 months old, Adam was diagnosed with Tay-Sachs, for which there is no cure. He died on Aug. 28, 2001, when he was just 2½ years old.

One in 30 Jews of Ashkenazi and Eastern European descent is a Tay-Sachs carrier, and when both parents are carriers, the child has a 25% chance of developing the disease and a 50% chance of being a carrier. That’s according to Karen Grinzaid, executive director of JScreen, a genetic testing and counseling nonprofit based at Emory University in Atlanta.

Fewer than 5,000 Americans have Tay-Sachs, according to an estimate by the National Institutes of Health.

“People with Tay-Sachs disease do not have enough of an enzyme called beta-hexosaminidase A. The less enzyme a person has, the more severe the disease and the earlier that symptoms appear,” per the NIH.

Tay-Sachs symptoms can appear at any point in life, but the most common severe form appears in the first few months of a baby’s life. The symptoms include loss of learning skills, seizures, and muscle and mental function loss, as well as behavior problems and common respiratory infections, according to the NIH.

“There is no cure for Tay-Sachs disease, and no treatments are currently proved to slow progression of the disease,” per the Mayo Clinic. “Some treatments can help in managing symptoms and preventing complications. The goal of treatment is support and comfort.”

‘Knowledge Is Power’
Tay-Sachs incidence has been particularly high on average among those of Eastern European and Ashkenazi Jewish descent, as well as among certain French Canadians, Pennsylvania Amish, Louisiana Cajuns and those of Irish ancestry, according to the Cleveland Clinic.

But those of any background can have Tay-Sachs, of which about one in 300 people is a carrier. Grinzaid, of JScreen, told JNS that many babies with Tay-Sachs are born to interfaith couples or those with no known Jewish background.

The nonprofit, founded in 2013, raises awareness of the importance of genetic disease testing. JScreen tests people remotely for more than 200 diseases, including Canavan, cystic fibrosis and familial dysautonomia. The test, which formerly required a blood sample, can now be done with saliva.

“Carrier screening is important for everyone planning to have children,” Grinzaid told JNS. “If a carrier is healthy, they will have no idea what diseases they are a carrier for.”

Partners who both carry Tay-Sachs can choose in-vitro fertilization and test pre-implementation to see if either the sperm or egg is viable, or they might opt to use donor sperm or eggs, according to Grinzaid. Some also decide not to have children, while others take their chances and test the baby in utero before deciding whether to continue the pregnancy, she added.

Testing used to require invasive blood work. Now, a saliva sample can be mailed to JScreen, where it is analyzed, after which genetic counselors hold telehealth meetings with parents to discuss the results and plan their options.

“Screening is knowledge,” Bonnie Davis told JNS. “Knowing your carrier status is knowledge, and knowledge is power. You are entitled to have that knowledge.”