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

What to Expect with Infantile

Tay-Sachs, Sandhoff and GM-1

First Year

During the first year of life development slows and starts to regress. Fine and gross motor skills decline and muscle tone decreases.

Second Year

Muscle tone continues to decline, and the head and limbs require more support. Frequent turning and range of motion exercises help to reduce skin breakdown. Congestion becomes an issue because of immobility and loss of gag and cough reflexes. Seizures typically start; types vary but usually the child stiffens and trembles, and the eyes roll back. Swallowing begins to deteriorate. A speech language pathologist can demonstrate techniques to promote the suck / swallow action and provide guidance on adjusting consistency of liquids to encourage safe swallowing. A feeding tube is an option. Please see Philosophy of Care to learn more about making the right care choices for your child and your family.

Third Year

Muscle tone has completely diminished leaving the children paralyzed. The"text books" say the children are deaf and blind but parents often state their children retain some hearing and sight. We prefer to believe the true experts – the parents! Seizures, congestion and respiratory health are primary symptom management issues.

Fourth Year and Beyond

There is little visible change but management becomes more complicated.

 

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