Transcript Tay Sach`s Disease PPT

TAY-SACH’S
DISEASE
(ALSO KNOWN AS TSDANDGM2GANGLIOSIDOSIS)
BY: SKARLET BRITO, ASHLEE KEARNEY, CRISTOPHER OLIVERA
THE HISTORY BEHIND THE NAME
• Warren Tay and Bernard Sachs discovered the Tay-Sachs disease.
• The disease’s name was a combination of both of their last name.
•
Bernard Sachs was a neurologist who first described the changes in the brain and the prevalence
among Ashkenazi Jews.
• Discovered in 1880
• Mainly discovered in European countries
• This disease was discovered through a lot of observations from families who have witnessed their children being
born with Tay-Sachs. In 1970 there was no way really to test for the disease. In order to know who had it you
had to be the parent of the baby who was born with it. Today, there are safe and reliable testing that is available to
identify Tay Sachs disease.
WHAT IS TAY-SACHS
• Tay-Sachs is a rare inherited disease that can destroy nerve cells in the brain and spinal
cord.
• This disease mostly takes place in infants.They appear normal until the age of 3 to 6
month when their muscles and use of movements start to weaken.
• This disorder is very rare and are more common in people of Ashkenazi Jewish heritage.
• TSD is recessive genetic disorder.
HOW IS THE DISORDER INHERITED
• Some people carry the genetic mutation that causes Tay-Sachs, but do not fully develop
the disease. A child can only have Tay-Sachs disease if both parent are carriers of the
disease. There is 50% chance that the child will be a carrier but may not have the disease.
There is also an 25% chance that they will not be a carrier and not have the disease and
another 25% chance that the child will indeed have the disease.
• Parents can get a screened by having a simply blood test.
SYMPTOMS
Symptoms of Tay-Sachs can start from 3 to 6 month from birth.
• Deafness
• Hard time breathing
• Seizure
• Blindness
• Slow growth
• The nerve damage caused by TSD may also lead to seizures, which may result in choking or
physical injury.
DIAGNOSIS
• A doctor or a nurse will exam the baby and ask question about the family’s history of
both the parents.
• Some of the test that can be done are eye and blood exam.
• Babies with TSD lack of Hexosaminidase which is an diagnostic indicator of the disease.
PROGNOSIS
• A infants living with TSD will only survive from age 4 to 5.
• A baby may lose the ability to see or hear and they can also lose muscle function.
• There is no chance of the baby surviving. Currently there is nothing to keep the baby
alive.
• Death is cause by pneumonia because of the child's weakened state.
• For the child’s family it is very hard for them to know that the child will only live a short
amount of time.
TREATMENT/MEDICATION
• There is no cure for the disease but there are ways to make the infant feel more comfortable.
• Most of the treatment to make a baby feel better is focused on problems with lungs and
airways, helping the baby eat better and problems with swallowing.
• Some hospital that have more experience are Birmingham Children's Hospital, Great Ormond
Street Children's Hospital, London, St Mary's Hospital, Manchester.
• Some team that work with Tay-Sach are called multidisciplinary teams, short for MDTs.
• There was no past treatment that could help a infant with Tay-Sachs.
CURRENT RESEARCH
• There is a foundation called The Cure Tay-Sachs Foundation which is helping find a cure
for Tay-Sach.
• So far the foundation has not found anything but they say that they are “sure they will
find a cure very soon”.
A GREAT STORY
This story is about Molly Grace. Molly Grace was born on September 26, 2003. She was born
two month early and she weighted only 4lbs 0oz. Molly was a very healthy child in till her
mother notice she was very behind on her milestone. When Molly’s mother ask their doctor,
the doctor told them it was because she was born premature. At 9 month old Molly could not
crawl or sit up the right way. She started getting worse and the more medicine they give her the
worse she seem to get. At 17 month Molly’s mother called her neurologist and they set up a
time to meet. A few weeks later they found out that Molly had Tay-Sach. At 20 months old Molly
needed a g-tube to be able to eat. Molly at age 4 was not able to see. On October 2007 Molly
died of Tay-Sachs. Her mother is now helping the foundation find a cure, she says that she owed
it to molly.
RESEARCH
http://www.news-medical.net/health/What-is-Tay-Sachs-Disease.aspx
Website title: News-medical. net Article title: What is Tay-Sachs disease? Published date: November 23, 2009 Dated Accessed: April 4, 2016
http://kidshealth.org/en/parents/tay-sachs.html
Website Title: KidsHealth Article Title: Tay-Sachs Disease Publisher: The Nemours Foundation Date Accessed: April 04, 2016
http://www.taysachsdisease.com/
Website Title: Tay Sachs Disease Article Title: Tay Sachs Disease Date Accessed: April 05, 2016
https://ghr.nlm.nih.gov/condition/tay-sachs-disease
Website Title: Genetics Home Reference Article Title: Tay-Sachs disease Date Accessed: April 1, 2016