September welcomes a variety of milestones – the end of summer, the beginning of school, and the return of pumpkin flavored foods. While this month is celebrated for all that fall has to offer, September is also Tay-Sachs disease Awareness Month.
The National Tay-Sachs & Allied Diseases Association (NTSAD) defines Tay–Sachs disease as a “genetic disorder caused by the absence of beta-hexosaminidase (HexA). This missing enzyme causes cells to become damaged, resulting in progressive neurological disorders.”
There are three forms of Tay-Sachs disease. The most common form is the classic infantile form, where symptoms appear at approximately 3-6 months of age. Parents see their child losing motor skills, developing progressive weakness and having an abnormal startle response. Most children experience seizures by age 2 and gradually lose muscle function, mental function and sight until they become un-responsive. Lifespan is typically less than 4 years. The other two forms, juvenile and late onset, are less severe with slower progression and symptoms developing later in life.
When considering a pregnancy, this information can sound scary. However, there are steps you can take to find out if you are at risk for having a child affected with Tay-Sachs disease. Carrier screening is a simple blood or saliva test that can be done to see if you and your partner are carriers of Tay-Sachs disease (note that carriers typically show no symptoms of the disorder). Going through this process, it is important to know that both you and your partner need to be carriers of Tay-Sachs disease in order for you to be at risk of having a child with the disease.
Good Start Genetics utilizes next generation sequencing (NGS) technology to analyze DNA and specifically the HEXA gene, to see if there are mutations, or changes in that gene that would be expected to reduce HexA enzyme levels. Another blood test called enzyme-testing, looks at the amount of active HexA enzyme in the body. Decreased levels of HexA typically indicate that the person is a carrier.
Carrier couples have the most reproductive options when they are identified before a pregnancy occurs – those options can be reviewed with a genetic counselor and/or physician. Carrier screening for Tay-Sachs disease (and other hereditary conditions) can also be performed any time during pregnancy and couples at risk have the option for prenatal diagnosis during the first or second trimester.
Inherited conditions are seen more often in certain ethnicities. Tay-Sachs disease carriers are most commonly detected in the Ashkenazi Jewish population but can also occur at an increased rate in other ethnicities such as French-Canadians or Cajuns. In the Ashkenazi Jewish population, 1 in 27 individuals is a carrier. Carrier screening was initiated in this community in the 1970’s and has reduced the incidence of Tay-Sachs disease by an astounding 90%.
Carrier screening for anyone is a very personal choice but can provide reproductive options. While there is currently no cure for Tay-Sachs disease, there are ways to improve the quality of life for your child. If you’re searching for more information, visit NTSAD and Tay-Sachs.org.