Tay SachsTay Sachs

Rachel StangRachel Stang

Biology, 6Biology, 6thth

Ms. MartinsonMs. Martinson

Other NamesOther Names

B variant GM2 gangliosidosis B variant GM2 gangliosidosis GM2 gangliosidosis, type 1 GM2 gangliosidosis, type 1 HexA deficiency HexA deficiency Hexosaminidase A deficiency Hexosaminidase A deficiency Hexosaminidase alpha-subunit Hexosaminidase alpha-subunit

deficiency (variant B) deficiency (variant B) SphingolipidosisSphingolipidosis TSD TSD

Type of DisorderType of Disorder

Tay Sachs is an autosomal recessive Tay Sachs is an autosomal recessive disorder. You receive the gene from disorder. You receive the gene from your parents.your parents.

Hex A Gene

Where does the mutation happen?Where does the mutation happen?

SymptomsSymptoms

Tay Sachs affects the muscular system.Tay Sachs affects the muscular system. You cannot tell a child has the disorder by looking at You cannot tell a child has the disorder by looking at

them.them. The first symptoms show up around three to six The first symptoms show up around three to six

months of age. A baby will have low muscle tone and months of age. A baby will have low muscle tone and muscle contractions while sleeping.muscle contractions while sleeping.

At six to ten months, a baby will lose skills, such as At six to ten months, a baby will lose skills, such as sitting, that they previously had. Also, they will not sitting, that they previously had. Also, they will not meet milestones during that time.meet milestones during that time.

Between eight to ten months, a baby will lose their Between eight to ten months, a baby will lose their vision.vision.

A baby will have had a seizure by their first birthday.A baby will have had a seizure by their first birthday.

DiagnosisDiagnosis

Parents can test by having their blood drawn. Parents can test by having their blood drawn. This is recommended if you are of Ashkenazi This is recommended if you are of Ashkenazi Jewish descent and/or you have a family Jewish descent and/or you have a family history of Tay Sachs. history of Tay Sachs.

Children can also be tested if they are Children can also be tested if they are showing symptoms.showing symptoms.

The blood is tested for a The blood is tested for a

lack or mutation of the lack or mutation of the

hex A gene. hex A gene. This can be done at any age.This can be done at any age.

InheritanceInheritance

Carriers of the disorder are Carriers of the disorder are generally Ashkenazi (Eastern generally Ashkenazi (Eastern European) Jewish, but can also be European) Jewish, but can also be found from French-Canadian, Cajun, found from French-Canadian, Cajun, and Irish descent.and Irish descent.

Males and females have an equal Males and females have an equal chance of getting the disorder.chance of getting the disorder.

Inheritence of Tay SachsInheritence of Tay Sachs

ProbabilityProbability

One out of every 30 people with One out of every 30 people with Ashkenazi Jewish roots carry the Ashkenazi Jewish roots carry the disorder.disorder.

One out of every 300 individuals One out of every 300 individuals with roots in other places carry the with roots in other places carry the disorder.disorder.

PrognosisPrognosis

Tay Sachs is deadly.Tay Sachs is deadly. Children usually die by the age of Children usually die by the age of

four or five years old. four or five years old.

Treatment or Cure?Treatment or Cure?

Tay Sachs cannot be cured, but there are Tay Sachs cannot be cured, but there are some ways to ease the pain of the some ways to ease the pain of the patient.patient.

Patients can be given chest Patients can be given chest physiotherapy (CPT) to aid in respiratory physiotherapy (CPT) to aid in respiratory care. care.

Feeding tubes can be used for the child, Feeding tubes can be used for the child, as eating often aggravates respiratory as eating often aggravates respiratory issues. issues.

Physical therapy can be used to help Physical therapy can be used to help loosen the muscles and joints.loosen the muscles and joints.

Current ResearchCurrent Research

Right now, there is not very much Right now, there is not very much research on Tay Sachs. The research on Tay Sachs. The University of Minnesota is University of Minnesota is conducting a study on the conducting a study on the development of the disorder.development of the disorder.

Genetic CounselingGenetic Counseling

Genetic Counseling is the way to Genetic Counseling is the way to diagnose Tay Sachs. diagnose Tay Sachs.

Normally a DNA sample would find a Normally a DNA sample would find a disorder in an unborn child, but for disorder in an unborn child, but for Tay Sachs, a blood sample is Tay Sachs, a blood sample is necessary.necessary.

Support GroupsSupport Groups

National Tay Sachs & Allied National Tay Sachs & Allied Diseases Association, Inc. (NTSAD)Diseases Association, Inc. (NTSAD)

Harry’s StoryHarry’s Story

Sharon and Steven Hoffman were overjoyed with the Sharon and Steven Hoffman were overjoyed with the news that they were going to have a baby. This news that they were going to have a baby. This wonderful news came along with the bad news that wonderful news came along with the bad news that their son would have Tay Sach’s Disease. Sharon and their son would have Tay Sach’s Disease. Sharon and Steven decided to keep their pregnancy, even though Steven decided to keep their pregnancy, even though their doctor advised them to terminate it. June 7their doctor advised them to terminate it. June 7 thth, , 1998 Sharon gave birth to a beautiful little boy, Harry.1998 Sharon gave birth to a beautiful little boy, Harry.

While Harry was alive, his parents were determined to While Harry was alive, his parents were determined to give him as full of a life as they could. He was treated give him as full of a life as they could. He was treated as normal as possible. With the help of a nurse, Harry as normal as possible. With the help of a nurse, Harry had a life full of excitement and fun.had a life full of excitement and fun.

After his death on February 17After his death on February 17thth, 2001, the Hoffmans , 2001, the Hoffmans created the Harry Hoffman fund, an account with created the Harry Hoffman fund, an account with money specified not only towards finding a cure for money specified not only towards finding a cure for Tay Sach’s, but for the families who are going through Tay Sach’s, but for the families who are going through the struggle of raising a child with the disorder. Sharon the struggle of raising a child with the disorder. Sharon and Steven are trying to honor Harry’s memory by and Steven are trying to honor Harry’s memory by giving other children with Tay Sach’s as full of a life as giving other children with Tay Sach’s as full of a life as possible.possible.

BibliographyBibliography

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