To confirm that your baby has Tay-Sachs disease, your Mayo Clinic doctor will ask you about the child's symptoms and any hereditary family disorders and will order a diagnostic blood test. While performing a complete physical exam of your child, the doctor may see a "cherry-red" spot in the back of the child's eyes, which is a sign of the disease.
Because there's no cure for Tay-Sachs disease, the goal of treatment is support and comfort. Some ways that your child's Mayo Clinic treatment team works toward that goal include:
- Medication. To reduce your child's symptoms, a number of prescription medications are available, including seizure medications.
- Respiratory care. Children who have Tay-Sachs disease are at high risk of lung infections that cause breathing problems and frequently accumulate mucus in their lungs. Respiratory therapists at Mayo Clinic have extensive experience in reducing the mucus using chest physiotherapy (CPT) and in training family members to provide CPT to your child at home.
- Feeding tubes. Your child may 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 nasogastric tube, which is inserted through your child's nose and goes to your child's stomach. Or, a doctor trained in stomach surgery may surgically insert an esophagogastrostomy 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 can delay joint stiffness and reduce or delay the loss of function and pain that can result from shortened muscles.
- Family support. Your child's Mayo Clinic treatment team can provide resources and information to help you and your family cope with your child's needs. Your team can help connect you to local support groups.
- Follow-up care and coordination. Your Mayo Clinic doctor will provide treatment and follow-up care for your child and will coordinate the treatment and support plan with your child's primary care doctor or pediatrician.