Where does tay Sachs get its name?
Tay-Sachs disease was discovered and named after by Warren Tay and
Bernard Sachs in the late 19th century. While they did not work
together, they both described the disease and how to diagnose it in the
same way, and they both reported their findings around the same time.
What does TAY Sachs do to the person?
Tay-Sachs disease occurs when fatty buildup in the brain prevents nerve cells from functioning properly. The fatty build up makes it difficult for the person to move, to show expression, to talk, or even to perform other basic functions. Because of the missing Hex-A( an enzyme, which is a type of protein, that people with Tay Sachs lack), nerve cells will be destroyed. Destruction of nerve cells begins before birth,
but an affected baby does not begin to lose nerve function until he or
she is about six months old. By age two, the child may have seizures
and begins to lose skills such as crawling, sitting, turning over, and
reaching for things.
WHAT ARE THE SYMPTOMS OF TAY SACHS?
Babies born with Tay-Sachs disease are typically healthy until about
four months of age. Around this time, symptoms of the disorder will
begin to appear.
As the disease continues, these symptoms become more dominant:
- Seizures
- Behavior changes, such as the infant stops smiling, crawling or rolling over and loses the ability to grasp or reach out
- Increased startle reaction
- Decreased eye contact
- Listlessness(lack of energy of enthusiasm)
- Increasing irritability
- Slow body growth with increasing head size
- Delayed mental and social skills
As the disease continues, these symptoms become more dominant:
- Feeding difficulties
- Abnormal body tone
- Disability to move
- Blindness
- Deafness
- Loss of intellectual skills
which part of the genetic code has the defect?
Tay-Sachs is caused by a defective gene. Genes are located on chromosomes and they give off codes for specific developments in the body. The genetic defect in Tay-Sachs disease results in the lack of an
enzyme called Hexosaminidase A(HEX A), which is found on chromosome 15. Without this enzyme, gangliosides(a fatty substance in the brain) cannot be broken down. They build up within the brain, interfering the nerve cells.
Is there a treatment or cure for Tay Sachs?
Unfortunately, there is no cure for Tay-Sachs disease and there is no way to prevent or slow the progression of the disorder. The disease is fatal, but children can be made to feel more comfortable through the use of certain medications and therapies. Most children diagnosed with Tay Sachs will die within the first five years of life.
How does a person cope with tay sachs?
Tay Sachs has no cure, but it does have treatments that can make the child feel more comfortable. Doctors may be
able to help a child cope with Tay-Sachs by giving medication to relieve pain, manage seizures, and
control muscle spasticity. Researchers are studying ways to improve treatment for Tay-Sachs disease and screening methods for the disease. Hopefully, one day, there might be a cure for Tay Sachs.
How can you help?
Click on picture for a link to their website.
If you know someone with Tay Sachs, show care towards them and don't judge. Best way to helping someone with a sickness is consideration. If you happen to see someone with Tay Sachs having a seizure or other discomforts, best to call a doctor or hospital straight away. If you're a family member of someone with Tay Sachs, you should always be around them in case of fatal situations concerning their health.
If you're a stranger, and you don't know anyone with Tay Sachs, but you still want to help then you can always donate in research projects(for a cure or treatment for Tay Sachs) or awareness program. Cure Tay-Sachs Foundation is a great awareness program for Tay Sachs. They help fund the on-going research needed to find treatments and a cure for Tay Sachs Disease. Visit their website for a donation or for more information! (Click on Cure Tay-Sachs Foundation image for a link to their website.)
If you're a stranger, and you don't know anyone with Tay Sachs, but you still want to help then you can always donate in research projects(for a cure or treatment for Tay Sachs) or awareness program. Cure Tay-Sachs Foundation is a great awareness program for Tay Sachs. They help fund the on-going research needed to find treatments and a cure for Tay Sachs Disease. Visit their website for a donation or for more information! (Click on Cure Tay-Sachs Foundation image for a link to their website.)
