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Tay-Sachs Disease
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Tay Sachs disease is an inherited fatal disease that is classified among the lipid storage disorders. It causes a buildup of a fatty material called ganglioside G in the body's tissue and in the brain. It is caused by a lack of an enzyme known as beta-hexaminidase A that breaks up the fatty materials known as gangliosides. Gangliosides are normally created and biodegraded quickly in early fetal and infant life as the brain is developing. Without beta-hexaminidase A, the gangliosides keep building up.
Infants with Tay-Sachs disease appear normal as newborns and young infants. However, as the fatty substances build up within the brain cells, a progressive deterioration of the physical and mental abilities occurs. Shortly the child becomes deaf, blind and has the inability to swallow. The baby soon becomes paralyzed with brain atrophy. They develop seizures, dementia and an increase in the startle reflex, especially to noise.
The disease was named for by two doctors, Warren Tay and Bernard Sachs, who, in the middle to early 20th century. Dr. Tay defined the cherry red spot in the eye seen in retina of the eye and Dr. Sachs, a neurologist, whose work later showed the changes in the cells seen in Tay-Sachs disease. Dr. Sachs also defined the familial and genetic nature of the disorder.
There is more than one type of Tay-Sachs disease. Another type hits in the person's twenties and thirties and involves an unsteady gate and progressive deterioration of mental functions. They have interesting "cherry-red" spots in their eyes indicative of the disease. Those with Tay-Sachs disease are more commonly of Eastern European descent or are Ashkenazi Jews. In today's time, however, it is known that Tay-Sachs disease can be found in all sociological and genetic backgrounds.
There are three types of Tay-Sachs disease identified, including the classic infantile form, the juvenile form and the late onset or "Chronic" Tay-Sachs disease. They are all related to one another but the buildup of fatty substance to one degree or another occurs in all cases.
The cause of Tay-Sachs disease is the absence of hexaminidase A or Hex-A. In classical infantile disease, the destruction starts in the fetal age but doesn't show up until infancy. Such children die by the age of three to four years of age. In juvenile Tay Sachs disease, the incidence of symptoms begins around age 2-5 years of age and the disease resembles classic Tay-Sachs disease. The symptoms are less pronounced as in classic Tay Sachs disease and result in dysarthria, muscle atrophy, and ataxia. Cramps occur in the muscles, an unsteady gate and mental illness. It is not always fatal.
There is a blood test that can check for carrier status in an unaffected potential parent as this is an autosomal recessive disease. Both parents need to be carriers and have a 25 percent chance of passing along Tay-Sachs disease to the unborn child. The test measures the degree of hexaminidase activity in the parent, which will be diminished but won't be absent.
Testing is an important thing for those who are Ashkenazi Jews, Cajun, Pennsylvania Dutch and French Canadians. Persons of Italian descent or who came from the British Isles are at higher than average risk for Tay Sachs disease. Testing for carrier status should be done when a couple is planning on conceiving a child.
The treatment of Tay Sachs disease involves treating the symptoms rather than the disease. Seizure medications can initially control the seizures but they are difficult to treat. It's also important to keep the sufferer hydrated and well fed but feeding by mouth is often too difficult. This means that a gastrostomy tube must be placed in order to feed the baby and protect their airway from food and liquid aspiration. Active research is being undertaken to try and help people with this condition. A trial of medications is underway, including a drug that reduces the buildup of fatty substances in the body, known as miglustat. Enzyme replacement with hexaminidase A is difficult because enzymes easily break down. Enzymes do not easily pass through the blood-brain barrier. This means that, as of yet, no particular cure for the disease exists.