Document 1: Tay-Sachs Disease
Name of Disorder: Tay-Sachs Disease
Causes:
Tay-Sachs Disease is caused by a change in a gene called HEXA, which is found on chromosome 15. This condition is inherited in an autosomal recessive manner, which means that both mom and dad need to carry the mutated gene for their child to be affected.
Mortality Rate:
Unfortunately, kids with Tay-Sachs usually do not live to see late childhood. About half of them pass away by the age of 4 or 5, and almost all do not survive past 5 or 6 years old.
Pictures:
(Include images that show where the HEXA gene is located and diagrams illustrating how Tay-Sachs affects the nervous system.)
Symptoms:
The symptoms of Tay-Sachs may include:
- Developmental delays
- Loss of motor skills
- An exaggerated startle response
- Seizures
- Loss of vision and hearing
- A "cherry-red spot" on the retina
Treatment:
There is currently no cure for Tay-Sachs Disease. Treatment mainly focuses on providing supportive care and managing symptoms. This may involve physical therapy and help with controlling seizures.
Treatment Centers:
Tay-Sachs Disease Testing and Support Center
Contact: 555-012-3456
Website: www.tay-sachssupport.org
Document 2: Down Syndrome
Name of Disorder: Down Syndrome
Causes:
Down syndrome happens because there is an extra copy of chromosome 21, which is called trisomy 21. This usually occurs randomly during the process of cell division, and scientists do not fully understand why this happens.
Mortality Rate:
Thanks to improvements in modern medicine, people with Down syndrome now live much longer lives. Many can live into their 50s or even longer!
Pictures:
(Include images showing the structure of chromosome 21 and photos of people with Down syndrome.)
Symptoms:
The symptoms of Down syndrome may include:
- Distinctive facial features (like a flat facial profile and slanted eyes)
- Hypotonia (which means low muscle tone)
- Short stature
- Developmental delays
- A higher risk of heart defects.