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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Classic Infantile Tay-Sachs

Symptoms

The First Signs - A baby with classic Infantile Tay-Sachs appears normal at birth and typically continues to develop normally for the first six months of age. Around 6 months of age, development slows. Parents may notice a reduction in vision and tracking and the baby does not outgrow normal startle response.

A Gradual Loss of Skills - Infantile Tay-Sachs children gradually regress, losing skills one by one. Over time they are unable to crawl, turn over, sit or reach out. Other symptoms include loss of coordination, progressive inability to swallow and difficulty breathing.

By Age 2 and beyond - Most children experience recurrent seizures by age 2 and eventually lose muscle function, mental function and sight, becoming mostly non-responsive to their environment.

Diagnosis

Tay-Sachs disease is diagnosed through a blood test to check the level of Hexosaminidase A (HexA). A follow-up DNA test may be recommended.  Any doctor can order the Tay-Sachs HexA blood test. Often, diagnosis is made by a neurologist or geneticist.

Babies affected by the infantile forms of Tay-Sachs, Sandhoff, GM-1 and similar related allied diseases are frequently diagnosed by the cherry-red spot on the retina of the eye.  Initially many parents notice developmental delays but pediatricians often dismiss these concerns by stating "every baby develops differently" and "the baby will catch up." Often at about 10-14 months of age, children may start to exhibit trouble tracking and/or focusing with their eyes, so parents schedule an appointment for an eye exam.   The cherry-red spot is quickly seen and an initial diagnosis of Tay-Sachs or similar devastating disease is made.

Diagnosis can also be made by a neurologist or geneticists and the completion of a metabolic evaluation.

Management

There is no treatment or cure for Tay-Sachs disease but there are ways to manage symptoms. These range from life-extending interventions like a feeding tube to comfort measures like massage to promote relaxation.

Respiratory health and seizure management are the two main symptom management challenges in Infantile Tay-Sachs. Recommendations for managing the symptoms appear in Find Support.

Newly diagnosed families should read Finding Your Philosophy of Care, available through NTSAD. It will help parents develop a care plan and care goals to aid in major care choices.

 

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