Cures and Treaments

Unfortunately, there are no known cures for Tay-Sachs disease. As for treatments, the only treatment available is called “palliative care.” The goal of this treatment is to make living conditions as comfortable as possible for victims suffering from Tay-Sachs disease.

Medication:

Palliative care may include the use of medication to reduce symptoms of Tay-Sachs disease. Anticonvulsant medication may be used to control seizures and antiepileptic drugs such as benzodiazepines, phenytoins, and barbituates may be used to control epilepsy. Epilepsy and seizures usually go hand in hand as 70% of people with epilepsy usually experience seizures.

An example of anticonvuslant medication

Respiratory Care:

Respiratory care is another important part of palliative care. Children who have Tay-Sachs disease are at a high risk of lung infections because mucus frequently accumulates in the lungs of these children. This causes breathing problems. Fortunately, chest physical therapy (CPT) can be administered by respiratory therapist or trained family members to reduce the levels of mucus in the lungs. Chest physical therapy is an airway clearance technique (ACT) used to drain the lungs of mucus. This may include percussion (clapping), vibration, deep breathing and huffing or coughing. The most common method is to drain mucus using gravity. This is known as postural drainage. Tay-Sachs disease patients may get into different positions as to drain mucus from the the five lobes of the lungs. Each position is designed so that each lobe of the lung is facing downward where gravity can help pull the mucus out. Another method is postural drainage and percussion (PD&D). Postural drainage is combined with percussion or clapping. A caregiver can clap the patient’s chest to help dislodge the mucus where it can move further to the airways where it can be coughed out of the body.

Chest physical therapy being performed by Mary Cray’s mother

Feeding Tubes:

Feeding tubes may also be used to prevent respiratory problems which are created by inhaling food and liquid into the lungs while eating. A feeding device such as a nasogastric tube may inserted through the child’s nose and into the the child’s stomach. A esophagogastronomy tube may also be surgically inserted.

Physical Therapy:

Children affected by Tay-Sachs disease may also benefit from physical therapy. Physical therapy helps keep joints flexible and allow for a wider ranger of movement. It may also delay joint stiffness and reduce the loss of function that can result from muscle weakness.The following video provides an example of physical therapy.

Real Life Cases of Tay-Sachs Disease:

Here are some videos of children affected by Tay-Sachs disease.