Resources

Resources may be hard to come by when a parent is going through the initial shock of discovering their child has tay-sachs disease.

Here is a list of websites that can help guide a parent to learn more about the disease and the ways to cope with it:

    1 http://www.tay-sachs.org/taysachs_disease.php

• Provides information on what the disease is
• Discusses why a child is born with it
• Gives insight into who is at risk for developing the disease
• Provides the diagnosis process
• Talks about family planning options for those carrying babies with the disease

      2. https://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/hic-Tay-             Sachs

• Discusses the causes of tay-sachs disease
• The symptoms in the various stages of the disease as it progresses
• Provides the diagnosis process
• Gives information on the fact that it is untreatable 

https://www.google.com/search?q=tay+sachs+information&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwjXotzivJvLAhVHymMKHQdLBXsQ_AUIBigB#imgrc=NBZar5WX3n8kUM%3A

     

      3. http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm

• This website provides great information on the research being conducted to find a cure for tay sachs disease. Parents can use this website to learn about clinical trials and be educated on patient recruitment for those trials. 
• This site also lists organizations that help fund the research process and their contact information

      4. https://www.ntsad.org/index.php/the-diseases/tay-sachs

• Provides information on the various forms of tay-sachs disease and how the symptoms present
• Gives the links to causes of tay sachs, the ongoing research being conducted, and the history of the disease 
• It also provides a resource for genetic counseling. This can help guide parents when making decisions about having a child

Treatment

It is heartbreaking to say that there is no cure for this terrible disease.

Children affected by this disease have such a rough road ahead of them... and research is continuously being conducted on whether a cure can be found.

For now, the best treatment is to contain the symptoms and promote comfort.... as best as a person can.

These include:

• Anti-convulsant medication to control seizures

• Proper nutrition and hydration (via nasogastric or esophagogastrostomy tube)

• Providing respiratory care

                 * Children are at a higher risk for developing lung infections, which can lead to breathing                       problems. Therefore, respiratory therapists should get involved in their care. 

                 * Chest physiotherapy helps to reduce the amount of mucus in the patient's lungs. 

• Physical therapy

                 * This helps with joint flexibility and maintaining range of motion as much as possible. 

                 * Delays joint stiffness and reduces pain from the shortening of muscles. 

• Family support

                 * Therapy, resources, and support groups are offered to families suffering from this disease

Reference: http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/care-at-mayo-clinic/treatment/con-20036799

https://www.google.com/search?q=coping+with+tay+sachs&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwi7kPm2opvLAhUW1WMKHUeFANQQ_AUIBigB#imgrc=_FE4oxx2uaRgIM%3A

Symptoms

Symptoms vary in the progression of tay-sachs disease.

3-6 months old:

• low muscle tone
• muscle weakness
• sudden contractions of large muscles
• increased startle response

6-10 months old:

• lose ability to perform tasks (ex: sitting)
• decreased eye movement 
• decreased attentiveness
• "cherry red spot" in eye; seen during eye exam

https://www.google.com/search?q=tay+sachs+symptoms&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwjMxqHznJvLAhVO3mMKHRUaDqUQ_AUIBigB#tbm=isch&q=red+cherry+spot&imgrc=IUQrfu7tfsCbFM%3A

8-10 months old:

• moves less 
• becomes less responsive 
• vision is lost
• seizures occur
• growing head size

Above 2 years:

• trouble swallowing
• progress to vegetative state
• death usually occurs between 2-4 years old; mostly due to pneumonia 

Reference: https://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/hic-Tay-Sachs

https://www.google.com/search?q=tay+sachs+symptoms&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwjMxqHznJvLAhVO3mMKHRUaDqUQ_AUIBigB#imgrc=-9zu0t53AI3K9M%3A

Reading these symptoms makes my stomach turn. 

No parent should ever watch their child go through this. 

Diagnose Me

The diagnosis for Tay- Sachs disease can be made through a blood test. The key is to focus on the Hex A enzyme. This is usually measured in the serum or white blood cells. Screenings for carriers within high-risk populations have significantly reduced the number of children born with TSD in these groups.Since screenings have been helpful to reduce the frequency of TSD, it is in the "unknown population" that we are seeing diagnoses of TSD. 

Prenatal tests that can diagnose Tay-Sachs are available. These procedures are referred to as Amniocentesis and Chorionic Villus Sampling. Amniocentes sampling is performed between the 15th and 16th week of pregnancy. The procedure involves inserting a needle into the mother's abdomen and obtaining a sample of the fluid that surrounds the baby. In Chorionic Villus Sampling a sample of cells from the placenta is retrieved by the doctor during the 10th and 12th week of pregnancy, and tested for the presence of Hex A.

Information found at:

http://www.who.int/genomics/public/geneticdiseases/en/index2.html

https://www.google.com/search?
q=hex+a+gene&espv=2&biw=1366&bih=623&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiM8M6mjPbKAhVN_mMKHZR5BaUQ_AUIBigB#tbm=isch&q=tay+sachs+diagnosis&imgrc=-iqk_QkL3yCJ_M%3A

Etiology

The way to test to see if the tay-sachs gene is present is by getting a blood test done. Everyone has two copies of the tay-sachs gene. This gene is HexA. The tay-sachs disease occurs when a person gene is not working properly and there is a mutation. One working gene and another working gene mean that the person is a carrier for tay-sachs. This still results in asymptomatic carriers, but when two people that are both carriers make a baby, there is an increased risk of the baby developing the disease.


https://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/hic-Tay-Sachs

This image describes how tay-sachs is passed down.


https://www.google.com/search?q=etiology+of+tay-sachs+disease&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwj7j8GuhOLKAhUJwmMKHd5pAFAQ_AUIBigB#imgrc=bTb28nnOjadurM%3A

Epidemiology

Tay-sachs is most prevalent in the Jewish population in Eastern Europe. A whopping 1 in 27 Jews in the United States carry the tay-sachs gene. In the non-Jewish population, the rate is 1 in 250 people affected with the tay-sachs gene. Interesting enough, if you are an ancestor of Ireland, you are at risk for the tay-sachs gene. In the Irish American population the rate is 1 in 50.

Below is the prevalence of the tay-sachs gene in the Jewish population. These are a few examples of high schools that surveyed for the frequency of tay-sachs gene.



http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802001000400007