Tay Sachs Disease Case Study

1873 Words8 Pages
Genetic Disease Decision Contemporary Nursing Issues April 21, 2012 Tay-Sachs disease is a rare neurological disorder that progressively destroys nerve cells in the brain and spinal cord. Signs and symptoms of Tay-Sachs become apparent during infancy, the infant may appear to be developing normal, about three to six months old the infant begins to show common symptoms slowing development, weakening muscles, and loss of motor skills. As the disease progresses the infant may develop increased startle reflex, loss of hearing and vision, inability to swallow, and paralysis. The infant also develops an eye abnormality called cherry-red spots discovered during eye examination and is a characteristic of Tay-Sachs disease.” Children with…show more content…
The Trosack’s need to know what they should and should not do. Also be emotionally and mentally prepared for the progression of the disease and be able to have the support needed to get through it. Rita and Peter need to understand at this time there is no treatment for Tay-Sachs, there are only ways to keep them comfortable. The child will be need proper nutrition, hydration, medication management, and physical therapy. The medication will include anticonvulsants and antispasmodics that will help control seizures and muscle spasms which will make the child comfortable. Children with Tay-Sachs usually die by age four to six and the Trosack’s also need to be made aware of this. Finding the proper support group and referrals in place will give the Trosack’s the proper tools to get through their ordeal. By talking and hearing other families who have gone or are going through this experience will help the Trosack’s…show more content…
The outcome of the child’s life and disease process is not a guarantee and the child may not be affected. To end a life of a fetus is regardless of outcome is immoral and ultimately no one can make that choice for them. The Trosack’s are the ones that will care, provide, and get to enjoy that child when it is healthy as well as when and if does get sick. The Trosack’s have been wanting a child for a long time and this may be there only opportunity to have a child. To know that the child will suffer and eventually die is difficult to accept but that is when religion and faith is important. Then the question comes is this God wanted for these parents and why. It is not for anyone to decide but the Lord who gets to live or die and when. Faith and trust in God will not provide all the answers but will ease the loss of the child and the parents will have the joy of being parents for a short

More about Tay Sachs Disease Case Study

Open Document