Tay-Sachs Disease - Medical Malpractice Lawyers

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Tay-Sachs Disease - Medical Malpractice

Tay-Sachs disease is a hereditary disease that has deadly consequences. It affects those with a defective gene found on chromosome 15. It is an autosomal recessive disease, meaning that both parents must be carriers of the disease in order to have a child who has the disease. Even then only twenty five percent of children born to such a couple will have the disease on average. Half of all children will become carriers of the disease and the remaining 25 percent will neither become carriers nor have the disease. Tay Sachs disease carrier status occurs in around one out of 27 people who are Ashkenazi Jews.

Tay Sachs disease happens because the body doesn't have hexosaminidase A, which is a protein that is used in the breakdown of nerve tissue gangliosides. Gangliosides begin to build up without the missing protein, particularly GM2. They build up in the nerve cells of the brain causing the symptoms seen in Tay Sachs disease.

There are three types of Tay Sachs disease. These include infantile form, juvenile form and adult form. Most people with the disease have the infantile form of the disease. Damage to the infant's nerves occurs while the fetus is still in the womb and symptoms occur beginning around age 3 to 6 months. The child often dies by age 4 to 5 years. It is rare to have the adult form of Tay Sachs disease.

The main symptoms of Tay Sachs disease include blindness and decreased eye contact ability, deafness, which is neural in origin, delayed mental skills, delayed social skills, true dementia, listlessness, irritability, increased startle reaction, loss of motor ability, paralysis, slow growth and seizures. The infant is often obviously affected early in life so that the diagnosis becomes easy to do.

Doctors diagnose Tay Sachs disease through a complete history and physical examination. The doctor notes the presence of the signs and symptoms noted above and asks the family whether or not they are Ashkenazi Jews. The disease can present itself in those who are not of this heritage but it is extremely rare. Other tests a doctor may do include checking for the level of hexosaminidase in the blood or body tissue and will look for the presence of a cherry red spot in the macula on an eye examination. Genetic tests can be done to look for the presence of a double chromosome 15 abnormality.

The treatment for Tay Sachs disease is solely based on controlling the symptoms. This can mean doing physical and occupational therapy to maximize function, taking anti seizure medication and maximizing hearing and vision. The goal is to make the patient more comfortable as this is always a terminal disease. Support groups can be offered to parents of patients with Tay Sachs disease which can be online or in person. The support groups can be very helpful in dealing with the obvious inevitability of a dying child. Tay Sachs support groups for those who have the adult form of the disease are rare because the disease is rare.

Preventing Tay Sachs disease is really not possible. The only thing that can be done is to do genetic testing on the parents to see if they have the gene for the disease and, in some cases, genetic testing can be done in utero, with the idea of aborting any fetus who is positive for the disease. Genetic counseling for carriers is a must.

Complications of Tay Sachs disease begin after about 3 months of age. The disease progresses to a loss of all voluntary movements, seizures which are intractable, and spasticity.

The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here