| How to Understand Tay Sachs Disease |
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Tay Sach Disease is a disease that progressively destroys the central nervous system. The way the disease progresses is that a fatty substance known as ganglioside GM2 accumulates in the nerve cells in the brain. In the majority of cases, the disease begins while the child is still in the womb but the symptoms are not seen until the infant turns around 6 months of age. Causes of Tay Sachs Disease The main reason that the fatty substance is able to accumulate is that the body lacks hexosaminidase A, which is a protein that helps break down gangliosides. The culprit is a defective gene found on chromosome 15. Children born with Tay Sach Disease have both of the parents carrying this deadly gene. If the child only receives one of the defective genes, he or she will only be a carrier as the parent. Any person can be a carrier of the disease; however, the rate of the disease is highest among the Ashkenazi Jewish population. Even though the first signs of Tay Sachs Disease are not seen until around the age of six months, they are more evident at different ages with different children. The progression is normally slow with the loss of peripheral vision at first when parents notice a startle response. By the age of two, most children will have seizures and diminished mental functions. The skills will regress slowly and one by one until the child will not be able to roll over, sit, crawl, or reach out. Symptoms of Tay Sachs Disease Loss of coordination Inability to swallow Breathing problems Blindness Mentally retarded Non-responsive to environment Deafness Decreased muscle tone Delayed mental and social skills Dementia Increased startle reaction Irritability Listlessness Loss of motor skills Paralysis or loss of muscle function Seizures Slow growth Diagnosis of Tay Sach Disease A family history will need to be provided to the physician along with a detailed physical exam. The doctor will ask pertinent questions regarding all family hereditary disorders including Tay Sach Disease. An eye exam, if the child has Tay Sach Disease will reveal a cherry red spot in the back of the eye. Along with the eye exam, a blood test will be taken to determine if the child has a hexosaminidase A deficiency. Treatment for Tay Sach Disease There is no cure for Tay Sach Disease and children with the disease do not live past the age of 5 in the majority of cases. Since, there is no known cure; the treatment used is to make the child more comfortable. The major treatments include respiratory care, physical therapy, medications, and support for the family. Children with Tay Sach Disease often accumulate mucus in their lungs and are at risk of developing respiratory infection, which causes breathing problems. The respiratory care is normally provided through physiotherapy along with training family members how to provide this care at home. When swallowing becomes a problem, a feeding device may be used. One option is with a tube that is inserted into the nose and goes into the stomach to provide nutrients to the child. The other option is a more permanent tubing. Medication will be given when the child begins to have seizures or other times to help relieve some of the problems associated with Tay Sach Disease including antibiotics for infection. Physical therapy is used to stimulate muscles and joints to help affected areas move more smoothly. This can help in delaying the stiffness and paralysis that is accompanied with Tay Sach Disease. Support for the family is very important which is given in the way of informative information, education, and support groups. 
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