Scientists are running many tests and experiments to try and find a cure for Tay Sachs Disease. It is likely that a cure will be found sometime in the future. Some experiments involve bone marrow transplants and gene therapy, while others have to do with molecular chaperones and stem cells. Molecular chaperones could increase enzyme activity and a dose of substrate inhibition each day could slow down the disease progression. Although these methods of possible treatment will not cure the disease, they help allow a parent to spend more time with their child.
Sunday, November 13, 2011
What is everyday life like? What is the quality of life?
Everyday life is hard when you have any form of Tay Sachs Disease. DJ, a little boy with Infantile Tay Sachs Disease, could not sit on his own when he was fifteen months old. After DJ played with his toys, he became exhausted and fatigued. When DJ was seventeen months old he couldn’t hold his head up anymore; his muscles were slowly becoming weaker. DJ would not read anymore because he was too weak to turn the pages of the book. When DJ was twenty months old, he experienced his first seizure; these seizures scared him, but did not cause him any pain. Near the end of his life, his ability to see was almost gone, but he could still hear. DJ died three days before his sixth birthday on March 9, 2003.
DJ is almost two years old in this picture. 
This picture was taken approximately one year before his death.
All images and information about DJ from: http://www.djhomepage.com/
How can the disease be treated?
Currently there is no treatment for Tay Sachs disease that has been effective. There are many studies occurring to try and find a way to help people with this disease.
What is the life expectancy of someone with the disease?
If a child has the classic or infantile form of Tay Sachs disease, he or she will develop severe symptoms around the age of one and die shortly afterwards. Rarely do children with this type of the disease live past the age of four. If a child has Juvenile Tay Sachs Disease, he or she usually develops symptoms between the ages of two and ten. These children normally die between the ages of five and fifteen. If an adult has Late Onset Tay Sachs Disease, he or she can develop symptoms from adolescence to their mid-thirties. This form of the disease is non-fatal and the patient will live until they die of natural causes.
Rosebush PI, MacQueen GM, Clarke JT, Callahan JW, Strasberg PM, Mazurek MF. (1995). "Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues". Journal of Clinical Psychiatry 56 (8): 347–53.
Saturday, November 12, 2011
What are the physical symptoms of the disease?
Physical symptoms of Tay Sachs Disease are seizures, paralysis, deafness, and loss of motor skills. Other symptoms may include decreased eye contact, decreased muscle tone, and slow growth.
How is the disease diagnosed?
Image from: http://en.wikipedia.org/wiki/File:Tay-sachsUMich.jpg
The doctor may also take other tests such as an enzyme examination to check hexosaminidase levels.
What are the chances of a person with this disease passing the disease to their offspring (include possible scenarios)?
A child with infantile or juvenile Tay Sachs Disease does not normally pass it on because they die between the ages of two and ten. Adults with late onset Tay Sachs could potentially pass it onto their children because they die between the ages of twenty and thirty. If the person with Tay Sachs Disease had a child with someone who also had it, the child would be guaranteed to have some form of the disease as well (see punnett square 1). If the person with Tay Sachs had a child with a carrier, there is a 50% chance that the child will have the disease and a 50% chance that the child will be a carrier (see punnett square 2). If the person with Tay Sachs had a child with a normal person, the child would be guaranteed to be a carrier (see punnett square 3).
Punnett square 1
Punnett square 2
Punnett square 3
All punnett squares made by me
http://www.genetics.edu.au/pdf/factsheets/fs35.pdf
http://www.ntsad.org/index.php/tay-sachs
Punnett square 1
| | t | t |
| t | tt | tt |
| t | tt | tt |
Punnett square 2
| | t | t |
| T | Tt | Tt |
| t | tt | tt |
Punnett square 3
| | t | t |
| T | Tt | Tt |
| T | Tt | Tt |
All punnett squares made by me
http://www.genetics.edu.au/pdf/factsheets/fs35.pdf
http://www.ntsad.org/index.php/tay-sachs
How prevalent is the disease in the population (include statistics)?
About one in every 27 Ashkenazi Jewish people in the United States United States
http://www.who.int/genomics/public/geneticdiseases/en/index2.html#ts
http://kidshealth.org/parent/medical/genetic/tay_sachs.html
http://www.who.int/genomics/public/geneticdiseases/en/index2.html#ts
http://kidshealth.org/parent/medical/genetic/tay_sachs.html
If this disease is genetic--what are the possible genotypes of the parents? If the disease is a chromosomal abnormality, describe the abnormality.
This disease is genetic, so the possible genotypes of the parents are Tt and Tt. This is the only way a child can get this genetic disease. It is also possible that this child could be a carrier. These outcomes are shown in the punnett square below. If the outcome is tt that means that the child has Tay Sachs disease, Tt means that the child is a carrier of this disease, and TT means that the child does not have this disease and cannot pass it on to his or her children.
punnett square created by me
http://nervous-system.emedtv.com/tay-sachs-disease/inheriting-tay-sachs.html
| T | t | |
| T | TT | Tt |
| t | Tt | tt |
http://nervous-system.emedtv.com/tay-sachs-disease/inheriting-tay-sachs.html
How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?
Tay Sachs Disease is an autosomal recessive disease and it is genetic. The disease is caused by a mutation in the fifteenth chromosome. The only way a child can inherit Tay Sachs is if both parents are carriers of this disease, meaning that they each have one mutated gene.
What is a Genetic Counselor-- Qualifications, Education, Job details
A genetic counselor is a person who helps others figure out whether they have or are at risk of having a genetic disorder. They can also help determine whether there is the possibility of passing a certain disease onto someone's children. A genetic counselor can help a family understand a certain genetic disorder. Most genetic counselors are certified by the American Board of Genetic Counseling. Qualifications for this certification include having a graduate degree in genetic counseling, clinical experience, and 50 supervised cases.
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