"Meet JUDY

By efrata2001 | Updated: Sept. 4, 2024, 6:12 a.m.

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UNITL...
Meet
Judy
SHE IS LIVING HER LIFE 
SHE GETS DIAGNOSED WITH TAY SACHS DISEASE...
JUDY 
For a while,
PSYCHIATRIC DISORDERS
Clumsiness
MUSCLE WEAKNESS
LOSS OF SKILL
has struggled with
THE SYMPTOMS
TAY SACHS DISEASE
DIAGNOSED IN...
1
3
2
INFANCY
CHILDHOOD
ADULTHOOD
INFANCY
Most commonly diagnosed and the most severe

Symptoms appear in the first few months
Children with this form do not survive past early childhood
CHILDHOOD
Appears within ages 2-5 and throughout childhood
Most don't survive past teenage years
Behavioral problems, loss of skill & seizures are common
Wide range of severity
ADULTHOOD
The least severe form
Symptoms often lead to a need for assistance
Lifespan varies from short to unaffected

JUDY 
has late onset Tay Sachs disease

She got diagnosed as an adult!
WHAT CAUSES TAY SACHS DISEASE?
TAY SACHS
DISEASE
A rare recessive autosomal disease passed down genetically. 
Caused by mutations in the HEXA gene
This gene tells the body to make beta-hexosaminidase which is used to break down GM2 ganglioside
The build up of GM2 ganglioside in the neurons of the brain and spinal cord cause the symptoms of Tay Sachs

INHERITANCE
Inherited Autosomally
A
In order to have Tay sachs, the mutation must be in both cell copies
PREVENTION
No way to prevent the inheritance of the genes
B
Carriers
Parents are carriers but are usually unaffected and don't show symptoms
C
WHERE IS IT FOUND?
Typically found in certain ancestries such as Eastern European Jews
...
TREATMENT
Currently no cure available 
GENE THERAPY MIGHT HELP DEVELOP A CURE  
TREATMENT OPTIONS
3
1
2
4
MEDICATION
RESPIRATORY CARE
FEEDING TUBES
PHYSICAL THERAPY
Since there is no cure, doctors prescribe these methods to reduce the symptoms  
Hopefully soon scientists will be able to develop an effective cure to Tay Sachs Disease and help Judy!
http://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease
BIBLIOGRAPHY
http://ghr.nlm.nih.gov/condition/tay-sachs-disease
http://www.ntsad.org/the-diseases/tay-sachs

"Meet JUDY

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