Tay-Sachs disease is an inherited, fatal genetic condition affecting a child who inherits two abnormal genes from its parents. Tay-Sachs is a lipid storage disorder characterized by the accumulation of harmful quantities of a substance called gangliosides, especially in nerve cells. Gangliosides are accumulated in the cells because the body lacks an enzyme (protein) called hexosaminidase that helps break down the GM2 gangliosides in a normal manner. From the two versions of hexosaminidase, hex A and hex B, babies affected with Tay-Sachs do not produce hex A. A disease with similar symptoms to Tay-Sachs (although caused by a mutation in a different gene) is known as Sandhoff disease.
For a child to develop Tay-Sachs disease, he/she must inherit the defective gene from both parents. If the child receives only one defective gene, the child becomes a carrier for Tay-Sachs. Carriers of a Tay-Sachs abnormal gene can be identified by a blood test that measures the beta-hexosaminidase A activity. Although anyone can be a carrier of Tay-Sachs, the prevalence of defective genes is greater among people of Ashkenazi Jewish and Eastern European descent. Some non-Jewish people of French Canadian origin, the Old Order Amish in Pennsylvania and Cajun population in Louisiana are also at increased risk of developing Tay-Sachs disease. Recently, some research has shown that among Irish Americans the carrier risk is about 1 in 50 individuals.
Tay-Sachs has been classified into infantile, juvenile and adult forms depending on the age of onset and severity of symptoms. Babies with infantile Tay-Sachs appear healthy at birth and proceed to develop normally for a few months. As nerve cells accumulate gangliosides GM2 the baby starts to show a gradual and progressive deterioration of mental and physical abilities. Symptoms associated with Tay-Sachs disease include:
Baby stops smiling
inability to crawl, turn over and reach out
Increased startle reaction
Inability to swallow
Decreased eye contact and blindness
Babies affected with Infantile Tay-Sachs disease (the vast majority) usually succumb to the disease by age 5. Children with juvenile Tay-Sachs disease start developing symptoms between age 2 and 10 and the disease gradually progresses with symptoms that resemble the infantile type of the disease. While the disease appears to progress at a slower pace, death generally occurs by age 15. Patients affected with adult onset Tay-Sachs disease appear to have a milder form of the disease. Symptoms vary and they may live a normal length of time.
Carrier testing is used to identify individuals (not affected) who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. If both parents are carriers, genetic counseling is required. A detailed discussion must include the 1 in 4 chances (25%) of having a severely affected child and a 2 in 4 chances (50%) of having a child who is a carrier of Tay-Sachs. Screening of children and pregnant women is effective in identifying individuals at risk who require further testing. A simple blood test that measures the beta-hexosaminidase A activity is the aim of the screening process. A blood sample for DNA genetic testing for known hex A and hex B gene mutation is also available.
The ideal time for genetic counseling is before a woman gets pregnant. Ethnic origin and family history are indicators for the need for genetic counseling to avoid passing the disorder to their children. In a pregnant woman, screening may start by evaluating the child's father. If the father is negative, the child could become a carrier but will not suffer from Tay-Sachs disease. If the father is a Tay-Sachs carrier, the unborn child can be tested by means of chorionic villi sampling or by amniocentesis. When both parents are carriers of Tay-Sachs, assisted reproductive technologies that combine pre-implantation genetic diagnosis with in-vitro fertilization is now available to help parents prevent the transmission of this genetic disorder. Pre-implantation genetic testing is also available for couples using in-vitro fertilization as an alternative form of reproduction.
If your child suffers from Tay-Sachs disease and you were not given the option to undergo genetic counseling and/or genetic testing, Dr. Borten and the Boston area medical malpractice attorneys at Gorovitz & Borten can help you assert your rights and get the compensation you deserve.
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