Nursing diagnoses

There are several issues that occur in the body of a patient with tay sachs disease. Here are 4 nursing diagnoses that are the priority when caring for a patient with tay sachs:


https://www.google.com/search?q=nursing+diagnosis&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiZvuTk483LAhUQ_mMKHcDMCcUQ_AUIBygC#imgrc=JMQtENPYAMjbxM%3A


1. Ineffective breathing pattern RT minimal chest expansion secondary to decreased motor function AEB needing ventilator to breathe.

2. Altered nutrition: less than body requirements RT decreased oral intake secondary to impaired physical mobility AEB decreased weight

3. Activity intolerance RT decreased muscle tone secondary to tay sachs AEB being confined to wheelchair


https://www.google.com/search?q=tay+sachs+disease+support+groups+list&espv=2&biw=1366&bih=667&site=webhp&source=lnms&tbm=isch&sa=X&ved=0ahUKEwjysZeM5M3LAhVG-GMKHXsADLUQ_AUIBigB#tbm=isch&q=tay+sachs+&imgrc=cpOXLBvcjfxynM%3A

4. Altered thought processes RT seizures secondary to tay sachs AEB loss of memory and difficult time speaking

Support groups

Here are a list of resources for support groups:

1. http://www.ntsad.org/index.php/find-support/late-onset
-This support group provides materials to better understand tay-sachs disease
-Explains symptom management
-Provides research updates
-Encourages how to cope with a loved one suffering from this disease

2. http://www.cats-foundation.org/family-support/
-This website offers family contact information to get in touch with families going through tay sachs as well. 
-This is to ensure that when a new patient is diagnosed, the family is not isolated and can get the resources they need to provide the best care to their loved one.


http://www.cats-foundation.org/family-support/

3. http://www.mdjunction.com/tay-sachs-disease
-This website is a forum to allow parents and family members to ask each other questions regarding tay sachs disease. 
-It is a community where family members, friends, and patients can support one another through the internet 
-Several people have posted on this forum asking for advice regarding care, symptoms, and how to help their child succeed as much as possible 


https://www.google.com/search?q=band+back+together&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiw_IfX3s3LAhVX5mMKHfU8DZQQ_AUIBygB&biw=1366&bih=667#tbm=isch&q=support&imgrc=siYdE6rsuM68FM%3A

4. http://www.bandbacktogether.com/terminal-illness-resources/
- This website provides support groups for family members of terminally ill patients.
- Having this resource to see coping mechanisms for parents is very helpful
- Since most tay sachs patients die within the first couple years, having other people experiencing the same is beneficial. 

App Resources

Here are some apps that can be of help when discovering your child has tay-sachs disease:

1. Racing Towards a Cure
    This app invites participants to run in a 5K race to raise money for a tay sachs cure. The name of the app includes an acronym that describes what the purpose of the app is. The Cure and Action for Tay Sachs foundation (CATS). This app allows people to participate in training for the race, provides health tips, and contact information for learning more about tay sachs. 
https://play.google.com/store/apps/details?id=com.app.p8934AJ&hl=en


https://www.google.com/search?q=the+cure+and+action+for+tay-sachs+foundation&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwj8-63d5b7LAhVT1mMKHRPtDnwQ_AUIBigB

2. Genetics & Birth Defects: Medical Dictionary and Terminology of Human Genetic Code and Evolution
    This app summarizes the various genetic disorders, including tay-sachs disease. This app gives information regarding the disease, and common symptoms that the patient will experience. The app can be a great tool to parents who want to learn more. 
https://itunes.apple.com/us/app/genetics-birth-defects-medical/id335520894?mt=8

https://www.google.com/search?q=dna+cartoon&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiXpKqR577LAhVE2mMKHcVXB1AQ_AUIBigB#imgrc=phCmQzWXrF-YmM%3A

3. Proloquo2Go
    This app assists communication with a disabled person. It is designed for autistic children, but can very helpful in children with tay sachs. It provides text to speech voices, symbols, large vocabulary, and is easy to navigate. If a child with tay sachs lives past two years of age, this app will allow that child to still have a way to communicate. 
http://www.friendshipcircle.org/blog/2011/02/07/7-assistive-communication-apps-in-the-ipad-app-store

https://www.google.com/search?q=proloquo2go&espv=2&biw=1366&bih=667&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiW_J2L6b7LAhVCKGMKHUWKD0UQ_AUICCgD#imgrc=pWN3WuQ0sxaEGM%3A

4. Talkitt
   This app is made to help create communication in people with motor and speech disorders. The app translates unclear pronunciation into understandable speech. This allows the child with tay sachs to talk in their own voice and still be heard. The app recognizes the person's vocal patterns and uses it to translate into a coherent manner. This app also works in every language. 
http://www.goodnet.org/articles/7-best-apps-for-people-disabilities-list#

https://www.google.com/search?q=talkitt&source=lnms&tbm=isch&sa=X&ved=0ahUKEwjbma_F6r7LAhUM4mMKHYNyBZgQ_AUICigE&biw=1366&bih=667#imgrc=QH1qNOdv6awliM%3A

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

So, you ask what is Tay-sachs? Many people have no idea what disease this is. Here... I'll tell ya.

Tay-Sachs is rare and passed from parent to baby. We have thousands of enyzmes in our body. In tay-sachs disease, there is a lack of a specific enzyme that breaks down fatty acids in the brain.

Missing this enzyme (which I'll describe in detail later) leads to a build up of toxic levels. This build up consists of fatty acids. Due to the body not being able to rid itself of certain fatty acids, the nerve cells are impaired.

This leads to blindness, paralysis, and death. A baby with tay-sachs will start showing symptoms at about 6 months old. Sadly, there is no cure.

Scientists are working on transferring the needed enzymes to these affected infants, however it is still being studied. At this point in time, there is only one method of prevention: to NOT have babies if both parents carry the gene. This is extremely challenging to ask of parents, so teaching must be a priority to them.

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

This is an image of a child with tay-sachs disease. Found via google images.

I have become curious to what Tay-Sachs disease is really like. And as a future parent someday, it would scare me to death to not know what my child has. So let's go deeper shall we?