First signs - Early symptoms of Late Onset Tay-Sachs (LOTS) include clumsiness and muscle weakness in the legs. Once diagnosed, adults often reflect back to their childhood and may notice experiencing symptoms much earlier such as not being athletic and/or speech difficulties or a stutter as a child or teenager.
The mental health symptoms may present first which can lead to an especially long road to diagnosis. About 40% of affected adults experience mental health symptoms such as bi-polar or
psychotic episodes.
Gradual Loss of skills - Over time adults with Late Onset Tay-Sachs slowly decline. Adults frequently require more mobility assistance, i.e. cane to walker to wheelchair. Many experience speech and swallowing difficulties but few require a feeding tube.
Late Onset Tay-Sachs may be hard to diagnosis. Some adults go 5 or more years before learning their true diagnosis. It may sometimes be misdiagnosed as Multiple Sclerosis or ALS.
Adults affected by the adult form of Tay-Sachs do not exhibit the
tell-tale cherry-red spot. This can make the road to diagnosis long and
challenging. Unfortunately many healthcare providers are not aware of
the rare adult forms of these diseases and dismiss the initial diagnosis
due to the age of the patient.
Adults that display mental health symptoms before physical symptoms often experience the longest road to diagnosis.
Tay-Sachs disease is diagnosed through a blood test to check the level of
Hexosaminidase A (Hex-A). A follow-up DNA test may be recommended. Any doctor can order the Tay-Sachs Hex-A blood test. Often, diagnosis is made by a neurologist or geneticist. Diagnosis can also be made by a neurologist or geneticists and the completion of a metabolic evaluation.
Many affected adults express mixed emotions when finally receiving their diagnosis. After years of not knowing the cause of their progressive symptoms, they may experience a certain amount of relief when an accurate diagnosis is determined. At the same time, Tay-Sachs is a difficult diagnosis to receive and there can be a sense of regret and frustration.
There is no treatment or cure for Tay-Sachs disease but there are ways to manage.
Mobility, speech and mental health are the primary symptom management issues of Late Onset Tay-Sachs. These symptoms frequently lead to other challenges related to employment, housing and communication.
Late Onset Tay-Sachs is a
challenging and debilitating disorder but doesn’t always shorten life span like the childhood forms of Tay-Sachs. Visit Living with LOTS to learn more about living a full and empowered life with Late Onset Tay-Sachs.
