Genetic Counseling – Tay-Sachs Disease Discussion

Tay-Sachs Disease

Tay-Sachs disease is an uncommon and typically fatal genetic condition which results to progressive destruction to the nervous system. The disease symptoms normally start before a child is six months old. Some of these symptoms include slowing down in the child’s development. The children also steadily lose their aptitude to motor skills which include crawling, sitting, and turning over. The early most noticeable symptoms include a child being very startled by impulsive noises as well as red dots showing close to the middle of the child’s eyes. As the disease continues, children this condition experiences paralysis, intellectual disability, hearing loss, vision, and seizures. Children suffering severe Tay-Sachs infantile normally only live to early childhood (Ghr.nlm, 2012).

Information to Share with Parents

Tay-Sachs is a hereditary disease where children are born without one of the most essential enzymes known as hexosaminidase A (HEXA). Thus, when those fatty proteins accumulate in the brain, they impair the baby’s mental development, movement, hearing, and sight. A child can only acquire the disease by inheriting its gene from both parents. The genetic mutation which results to this disease is more popular in Ashkenazi people with Jewish heritage and among individual living in central and Eastern Europe. However, the disease is not common since it results from parents with recessive gene.  The parents also need to be informed that Tay-Sachs disease does not have a cure. Enzyme replacement or gene therapy research might ultimately result to a treatment to Tay-Sachs disease slow progression or cure. It is also important for parents to note that severe condition during infancy may result to the child’s death (Mayo Clinic, 2014).

 


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