Tay-Sachs Disease Tay-Sachs disease is a disorder where harmful amounts of fat substances build up in nerve cells and tissue.
Inheritance Tay-Sachs disease affects someone who inherits two copies of an altered gene from their carrier parents Carrier parents have a one in four chance of having an affected child, a one in two chance of having a child who is unaffected, and a one in four chance of having a child who doesn’t carry any of these altered genes.
Symptoms Seizures Behavior changes in infants, such as they stop smiling, crawling and rolling over and loses the ability to grasp and reach out Startle reaction increases Lose eye contact Lose the ability to listen Slow body growth with increasing head size Delayed mental and social skills
How is the disease tested for? A simple blood test can determine the difference between Tay -Sachs carriers from non-carriers. A blood test is usually done from a vein or from the umbilical cord right after birth.
Occurrence of disease Each year there are about 16 cases of Tay-Sachs disease diagnosed. In the general population, 1 in 250 people have Tay-Sachs. Getting this genetic trait is relatively common among certain ethnic groups, such as Ashkenazi Jews.
Treatment As of now, there is now known treatment. Some supportive treatments may include proper nutrition and hydration along with Anticonvulsant medicine to help control seizures. Children may eventually need a breathing tube because its important to keep the air way open.
Interesting Info Most children with Tay-Sachs disease only live to the age of five. Symptoms usually appear before the age of six months. The disease is named after British Ophthalmologist Warren Tay and the American neurologist Bernard Sachs.
Dj When Dj was 18 months old he was diagnosed with the disease. At 10 months old his parents started noticing a potential problem, Dj couldn’t support his own weight. By the time he was 16 months his motor skills got to the point were he could no longer go unassisted. When he was 18 months, doctors noticed “red cherry spots” in the back of his eyes. In 1998 they came to the conclusion that Dj had Tay-Sachs disease and his parents were both carriers. He is now three and a half years old.
Work Cited http://www.djhomepage.com/ http://www.ninds.nih.gov/disorder/taysachs/taysachs.htm http://www.mazomet.com/genetics/tay-sachs.htm http://children.webmd.com/tay-sachs-test