Symptoms of Infantile Sandhoff
First signs - A baby with Classic Infantile Sandhoff appears normal at birth and typically develops normally for the first six months of age. As development slows, parents may notice a reduction in vision and tracking. The baby does not outgrow normal startle response.
Gradual loss of skills - Infantile Sandhoff children gradually regress, losing skills one by one and eventually 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.
Sandhoff disease is diagnosed through a blood test to check the levels of Hexosaminidase A (HexA) and Hexosaminidase B (HexB). 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 form of Sandhoff 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 Sandhoff disease is made.
Diagnosis can also be made by a neurologist or geneticists and the completion of a metabolic evaluation.
There is no treatment or cure for Sandhoff 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 Sandhoff.
For family resources and recommendations for managing the symptoms, visit Infantile & Juvenile 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.