Diagnosis
To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam. Your child may need to see a neurologist and an ophthalmologist for nervous system and eye examinations.
Your health care provider may order the following tests:
- Diagnostic blood test. The blood test checks the levels of hexosaminidase A enzyme in the blood. The levels are low or absent in Tay-Sachs disease.
- Genetic testing. This test can examine the HEXA gene to identify whether there are changes that indicate Tay-Sachs disease.
- Eye exam. During an eye exam, the health care provider may see a cherry-red spot in the back of the eyes, which is a sign of the disease.
Prenatal testing for Tay-Sachs disease can be done during pregnancy by removing a tiny piece of the placenta (chorionic villi sampling) or by removing a small sample of the amniotic fluid around the baby (amniocentesis).
Treatment
There is no cure for Tay-Sachs disease, and no treatments are currently proved to slow progression of the disease. Some treatments can help in managing symptoms and preventing complications. The goal of treatment is support and comfort.
Supportive treatments include:
- Medication. A number of prescription medications are available to reduce symptoms and prevent complications: for example, anti-seizure medications or antibiotics for infection.
- Respiratory care. Accumulated mucus in the lungs is common and results in a high risk of lung infections that cause breathing problems. Chest physiotherapy (CPT), exercise and other techniques can help remove mucus from the lungs. Medications to reduce saliva production and positioning techniques are also options to reduce the risk of mucus accumulation and prevent aspiration pneumonia.
- Nutrition and hydration. Your child may have trouble swallowing or develop respiratory problems by inhaling food or liquid into the lungs while eating. To prevent those problems, your doctor may recommend an assistive feeding device such as a feeding tube. A feeding tube may be inserted through your child's nose and into the stomach, or a surgeon may surgically insert a feeding tube directly into the stomach (gastrostomy tube).
- Physical therapy. As the disease progresses, your child may benefit from physical therapy to help keep joints flexible and maintain as much ability to move (range of motion) as possible. Physical therapy may delay joint stiffness and reduce or delay the loss of function and pain that can result from affected muscles.
- Occupational therapy. These therapists can recommend activities and supportive devices to help with daily functioning.
- Speech and language therapy. Speech and language therapists can assist with swallowing problems.
Potential future treatments
Research on treatments such as gene therapy, stem cell transplantation, or enzyme replacement therapy may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease.
Coping and support
Ask your child's health care provider to suggest resources and information to help you and your family cope with your needs. Look for local support groups to connect you with other families who are sharing similar challenges.