Tay-Sachs disease

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I am a carrier of Tay-Sachs disease, will I develop symptoms?

Carriers of an altered HEXA gene that causes Tay-Sachs disease do not develop symptoms of the disorder. They are at risk of passing the disorder on to their children if their partner is also a carrier. A genetic counselor in your area can help you understand more about your risk and the testing options for carriers.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
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What can I do for siblings of kids with Tay-Sachs disease?

Is palliative care available for Tay-Sachs disease?

Where can caregivers of people with Tay-Sachs disease get support?

Are there early intervention programs for Tay-Sachs disease?

How do children with Tay-Sachs disease do in school?

What symptoms are present at birth in infants with Tay-Sachs disease?

How important is carrier screening in Tay-Sachs disease?

Is constipation a problem in Tay-Sachs disease?

What is a cherry red spot in Tay-Sachs disease?

What is the average life expectancy for someone with Tay-Sachs disease?

What kind of medical equipment will a child with Tay-Sachs disease need?

Are there alternative and complimentary treatments for Tay-Sachs disease?

Is Tay-Sachs disease a lysosomal storage disease?

Where can I get financial help for Tay-Sachs disease?

Does late onset Tay-Sachs disease caused swallowing problems?

Is Sandhoff disease related to Tay-Sachs disease?

What can I do if a person with late onset Tay-Sachs disease has behavioral problems, mood problems, or signs of depression?

What can I do for siblings of kids with Tay-Sachs disease?

When infants and children have a chronic disorder like Tay-Sachs disease, it demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

References
  • Houtzager BA, Oort FJ, Hoekstra-Weebers JE, et al. Coping and family functioning predict longitudinal psychological adaptation of siblings of childhood cancer patients. J Pediatr Psychol. 2004;29(8):591-605. http://jpepsy.oxfordjournals.org/content/29/8/591.long
  • Barrera M. Siblings of Children with Rare Diseases are Psychosocially Vulnerable. [PowerPoint]. Vancouver, BC: Sibling Appreciation Day Children's Organ Transplant Society & Rare Disease Foundation; 2012. https://s3.amazonaws.com/childrensots/Siblings-Vancouver-2012_final.pdf
Is palliative care available for Tay-Sachs disease?

Children with Tay-Sachs disease may need palliative care. Palliative care ensures that a dying child is as pain free as possible and that all of their physical, social, emotional, and spiritual needs are met. Palliative care requires a close cooperation among family members, immediate relatives, and physicians, and other medical personnel. A primary care physician or local hospital may be able to offer advice and local resources for palliative care.

The International Children's Palliative Care Network has specific information and support for families considering palliative care for their children. Additionally, the Global Genes Organization has information on rare genetic conditions and palliative care. This information can be found at the Pediatric Palliative Care link.

References
  • What is Palliative Care? American Academy of Pediatrics website. Accessed July 10, 2016. http://www2.aap.org/sections/palliative/whatispalliativecare.html
Where can caregivers of people with Tay-Sachs disease get support?

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with Tay-Sachs disease. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for Tay-Sachs disease include: National Tay-Sachs and Allied Diseases Association, Inc., the Canadian Society for Mucopolysaccharide and Related Diseases, and the Center for Jewish Genetics.

References
  • Caregiver Action Network website. http://caregiveraction.org/
Are there early intervention programs for Tay-Sachs disease?

Infants with Tay-Sachs show symptoms within the early stages of life. The first few years of a child's life are critically important to a child's development. States have federally-funded early intervention programs that support families that have concerns or issues with their children's development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) and the National Tay-Sachs & Allied Diseases Association also provide information about early intervention programs and assistance.

How do children with Tay-Sachs disease do in school?

While the symptoms of Tay-Sachs disease can vary, most children do not learn to walk or talk. Some children, such as those with the juvenile form of Tay-Sachs disease, may need special accommodations in school. They are eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on Tay-Sachs disease and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans.

References
What symptoms are present at birth in infants with Tay-Sachs disease?

Infants with Tay-Sachs disease usually do not have any obvious symptoms at birth. Initially, they may develop as would be expected. However, often between 3 and 6 months of age, symptoms will appear. Infants may lose previously acquired skills such as holding one's head up, have difficulties with motor functions, and have a cherry red spot in their eyes. The first sign is often an exaggerated startle response, which means when an infant is startled the reaction is disproportionate to whatever startled him or her.

References
  • Tay-Sachs disease. Genetics Home Reference website. Accessed September 20, 2016. https://ghr.nlm.nih.gov/condition/tay-sachs-disease
How important is carrier screening in Tay-Sachs disease?

Tay-Sachs disease occurs with greater frequency in people of Eastern European (Ashkenazi) Jewish descent. If both parents have a nonfunctioning copy of HEXA gene, there is a 25% for each pregnancy that a child with have the disorder. Doctors strongly recommend that people of Ashkenazi Jewish heritage undergo carrier screening for Tay-Sachs disease. This involves a simple blood test to detect one of the two alterations in the HEXA gene that cause Tay-Sachs disease in this particular population.

Carrier screening is usually done through a doctor's office or a hospital-based medical genetics program. The results generally take about 2 weeks. However, advances in technology are making such testing more accessible to families. JScreen is a program managed by the Emory School of Medicine's Department of Human Genetics, provides at-home genetic screening and private counseling for Jewish people to determine their risk.

Carrier screening is most effective before beginning to start a family. Family planning is an important step for people at risk for having a child with a genetic disorder. A consultation with a genetic counselor is important to learn potential risk to the child and reproductive options for the couple. Support groups like the National Tay-Sachs & Allied Diseases Association (NTSAD) provide information on options for carrier couples. The NTSAD can also help appeal insurance companies that will not cover this test.

References
  • Roman AS. Carrier screening for genetic disease in Ashkenazi Jewish population. UpToDate, Inc. website.
Is constipation a problem in Tay-Sachs disease?

As children with Tay-Sachs disease grow older, they become less responsive to their surroundings. As they become more disabled and less response, steps must be taken to maintain good bowel health. One concern is the development of severe constipation. Steps can be taken to avoid constipation including giving a child plenty of liquids so that they remain hydrated as well as specific food additives. Medications such as stool softners and laxatives may also be beneficial.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
What is a cherry red spot in Tay-Sachs disease?

Cherry red spots are a distinctive finding in infants and children with Tay-Sachs disease. These spots can occur in other disorders, but they are considered a main finding in Tay-Sachs disease. Cherry red spots occur when the cells of the macula of the eye break down. The macula is the yellowish area near the center of the retina. When these cells break down, they expose the choroid that lies underneath. The choroid is the middle layer of the eye. It is made up of connective tissue and many small blood vessels. The exposure of these blood vessels is what gives the eyes of infants and children the distinctive cherry red spot.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
  • Tay-Sachs disease. Genetics Home Reference website. Accessed September 20, 2016. https://ghr.nlm.nih.gov/condition/tay-sachs-disease
What is the average life expectancy for someone with Tay-Sachs disease?

The classic, infantile form of Tay-Sachs is a progressive disorder that often cause life-threating complications early in life. Most children pass away by the age of 4 or 5. However, research is ongoing to find treatments and, ultimately, a cure for this disorder. The National Tay-Sachs & Allied Diseases Association has information for parents and families on how to cope with this disorder and what to do when your family receives a diagnosis of Tay-Sachs disease.

The onset of the juvenile form is sometime between the ages of 2-6. The disorder gets worse more slowly than does the infantile form. Most children become unresponsive during their early teen-age years and pass away a few years later.

The late onset form is highly variable. This means that it affects people very differently. Sometimes symptoms begin in the teen-age years, while other times people aren't diagnosed until well into adulthood. Because of this variability, making statements about prognosis for late onset Tay-Sachs disease is difficult.

References
  • Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews website. Accessed September 20, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1218/
What kind of medical equipment will a child with Tay-Sachs disease need?

Children with Tay-Sachs disease may need lots of different medical equipment. Parents may need to get a pediatric wheelchair, strollers, feeding pump and supplies, adaptive chairs, and bath chairs to name just a few. These devices can be expensive. Parents may need to get foam supports, feeder seats, and specialized strollers. Children who have problems breathing may need oxygen tanks and concentrators. Certain support groups and nonprofits including the National Tay-Sachs & Allied Diseases Association and the Cure & Action for Tay-Sachs (CATS) Foundation provide information on medical equipment. A doctor or other medical specialist can work with families to get or advocate for medical equipment.

Are there alternative and complimentary treatments for Tay-Sachs disease?

Various complimentary treatment options have been explored for children with Tay-Sachs disease. Complementary medicine are treatment methods that can be used along with standard medical practices. Complimentary medicine includes massage therapy, acupuncture and acupressure, music therapy, water (aquatic) therapy, and hippotherapy. Hippotherapy involves using horses to help enhance neurological and physical functioning. Hippotherapy uses the movement of the horse to improve a child's balance, trunk strength and control and other abilities.

References
  • The National Tay-Sachs & Allied Diseases Association website. https://www.ntsad.org/index.php/infantile-a-juvenile-support/complementary-medicine
Is Tay-Sachs disease a lysosomal storage disease?

Tay-Sachs disease is classified as a lysosomal storage disease. Lysosomal storage diseases are those in which there is a buildup of toxic material in lysosomes. Lysosomes are found in almost every type of cell in the body and are the primary digestive unit of a cell. They break down different substances within the cell and recycle them. In these diseases, there is an enzyme deficiency that causes the toxic material to build up in the lysosomes destroying the cells and damaging the surrounding tissues and organs. There are more than 50 different lysosomal storage diseases that have been identified by researchers. For more information on these disorders, visit the Hide & Seek Foundation for Lysosomal Disease Research or the Canadian Society for Mucopolysaccharide and Related Diseases, Inc.

References
  • Lysosomal storage diseases. The National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/lysosomal-storage-disorders/
Where can I get financial help for Tay-Sachs disease?

The medical cost of Tay-Sachs disease can be significant. Some families lack the resources necessary to provide for a chronically or terminally ill child. There are several organizations that provide financial assistance.

The Social Security Administration has a Compassionate Allowances Initiative. This program speeds up the processing of disability claims for people with specific medical conditions that cause severe disability. The classic, infantile form of Tay-Sachs disease is eligible for assistance under this program.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

References
  • The Social Security Administration website. https://www.ssa.gov/
  • The National Organization for Rare Disorders website. https://rarediseases.org/
  • National Human Genome Research Institute website. https://www.genome.gov/
Does late onset Tay-Sachs disease caused swallowing problems?

Adults with late onset Tay-Sachs disease can develop swallowing difficulties. This occurs because the muscles and nerves that are used for swallowing become damaged and weakened. Some people may have problems eating or drinking. Food may travel down the wrong tube and end up in the lungs where it causes infection. This is called aspiration pneumonia. Swallowing issues are a significant problem and require medical intervention. The National Tay-Sachs & Allied Diseases Association has information on how to deal with swallowing problems.

References
Is Sandhoff disease related to Tay-Sachs disease?

Sandhoff disease is a different disorder from Tay-Sachs disease. People with Tay-Sachs disease do not have enough of the enzyme hexosaminidase A. People with Sandhoff disease do not have enough of the enzymes hexosaminidase A and B. These two disorders are caused by alterations in different genes. Because they partly involve the same enzyme they are sometimes grouped or talked about together.

References
  • Tay-Sachs and Sandhoff diseases. March of Dimes website. http://www.marchofdimes.org/complications/tay-sachs-and-sandhoff-diseases.aspx
What can I do if a person with late onset Tay-Sachs disease has behavioral problems, mood problems, or signs of depression?

Psychiatric symptoms are possible in individuals with late onset Tay-Sachs disease. If someone is exhibiting behavioral problems, signs of depression, or other signs of a mental illness, there are a few different resources that may be helpful for them. For behavioral problems, counseling or behavioral therapy may be useful. For depression or other mental illnesses, counseling by a psychologist or being treated by a psychiatrist may be helpful for them as well.

The National Alliance On Mental Illness and the National Institute on Mental Health (NIMH) provide resources, information and support for people experience mental illness.

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