Tay-Sachs Testing – What You Need to Know
Tay-Sachs disease is a rare, neurodegenerative disorder in which the body does not produce necessary amounts of an enzyme (hexosaminidase-A) that helps to break down a naturally occurring fatty substances in the brain (called gangliosides). Without hexosaminidase-A, the brain continues to produce gangliosides that accumulate in the nerve cells of the brain, eventually causing damage to these cells.
Symptoms and Treatments for Tay-Sachs
In infants, symptoms of the disease begin to appear around 6 months. These usually include seizures, muscle weakness, loss of motor skills, and loss of cognitive abilities. Once symptoms have presented, a doctor can make a definitive Tay-Sachs diagnosis with a blood test. There is no cure for this disease, but constant care is necessary in order to maintain quality of life as patients often require a assistance with feeding, infection prevention, breathing assistance, and medication to prevent seizures.
Why Tay-Sachs Disease Occurs
Inherited by the child at conception, Tay Sachs is a genetic disease that is caused by a mutation in the HEXA gene, which instructs the body to make hexosaminidase-A. If both parents are carriers of the same HEXA gene mutation (causing Tay-Sachs), then the child has a 25% chance of inheriting the disease and a 50% chance of being born a carrier of the disease.
Tay-Sachs and Genetic Screening
Prospective parents can find out if they are carriers of Tay-Sachs by undergoing genetic carrier testing. The Inheritest carrier screen uses state-of-the-art sequencing technology to provide genetic risk information related to over 110 inherited genetic diseases (including Tay-Sachs) found among people all across the US. Requiring only a simple blood draw, this noninvasive procedure can help inform future parents if they are potentially at risk for having a child with a genetic abnormality. Results can be delivered in as little as two weeks.
It’s important to remember that most pregnancies result in healthy babies that are not affected by genetic diseases. However, if there is a problem, genetic carrier screening can provide parents with the valuable information necessary to make important decisions about alternative fertility options in the future and preparations for the care of their child.
Next Steps After Tay-Sachs Carrier Testing
While a positive screening result does not guarantee that a couple will have a child with a genetic disorder, there are several other fertility options for couples who test positive as carriers for Tay-Sachs, including egg/sperm donation, adoption, and even IVF with preimplantation genetic screening. If you would like to learn more about genetic abnormalities, genetic carrier screening, care for a loved one with an inherited genetic disease, or fertility options, please speak with your doctor or schedule an appointment with a genetic counselor.
SOURCES:
https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/
https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/diagnosis-treatment/drc-20378193
https://muhc.ca/med-genetics-ajprogram/page/we-are-both-carriers-tay-sachs-disease
