Gorovitz & Borten, P.C.
Attorneys at Law

550 Cochituate Road, SUite 25
Framingham, Massachusetts
Tel: (781) 890-9095
Tay-Sachs Disease
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
  • Seizures
  • Dementia

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.
Contact Information
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possible), please contact us by phone, fax or e-mail with your question or concern.

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