Genetic Counselling

GENETIC COUNSELLING 1

GeneticCounselling

Children get affected by various diseases in their infantry periodand illnesses get acquired during growth while others get inherited.The Tay-Sachs disease entails a rare and fatal genetic disorder thatcauses progressive damage to the nervous system especially in thebrain and the spinal cord[ CITATION edi15 l 1033 ]. Parents withkids that get diagnosed with Tay-Sachs disease, when neither of themhas had previous experience with the illness, deserve a propercounselling for preparedness about future scenarios.

The symptoms of Tay-Sachs disease begin to show up before the infanthits six months of age. The development of the child starts to slowdown at the onset of Tay-Sachs and the associated muscles used formovement weaken. The motor skills of the baby get lost, and theinfant finds it hard turning over, sitting, and crawling[ CITATION edi15 l 1033 ].The noticeable symptoms for the disease include the appearance of reddots near the middle of the infant’s eyes and an exaggeratedstartle reaction to loud noise. The signs and symptoms of the illnesscan appear in the childhood, adolescence, or the adulthood phase andare usually milder compared to the infant forms.

Tay-Sachs disorder gets caused by a mutation in the HEXA gene. Themutation occurs when there is a permanent alteration in theDeoxyribonucleic acid (DNA) sequence that forms a gene. The mutationleading to Tay-Sachs causes the body processes not to work in aproper manner. To bear a child with the Tay-Sachs disease, bothparents have to be carriers of the HEXA mutation[ CITATION May14 l 1033 ].

The parents need to undergo a thorough screening for the Tay-Sachsdisease in the event they fall in the high-risk groups. The testingshould enable the parents to plan for their family, and it can takeplace before or after the baby is conceived. The diagnosis of thedisease in an unborn baby enables the parents to make a decision onwhether to terminate or go ahead with the pregnancy. There is no curein existence for individuals that suffer from Tay-Sachs disease. Thetreatment of the disorder involves making the child feel comfortableby only treating associated symptoms[ CITATION edi15 l 1033 ].

In summary, the symptoms, causes, diagnosis, and treatment of theTay-Sachs disease enables parents to prepare for the future of theirchildren. Scientists should use the available information about theillness to develop better ways of preventing and treating theTay-Sachs condition.

References

Editor. (2015, 2 13). Tay-Sachs disease. Retrieved from NHS choices: http://www.nhs.uk/conditions/tay-sachs-disease/pages/introduction.aspx

Mayo. (2014, 10 21). Tay-Sachs disease. Retrieved from Mayo Clinic : http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/basics/definition/con-20036799