Tay-Sachs Syndrome

Signs and symptoms of the disease do not begin to surface until the child is around six months of age and it begins with gradual dysfunction of the motor skills. As the nervous system further degrades the symptoms become worse and the child loses sight, hearing, and mental functionality. Unfortunately there is no treatment for Tay-Sach’s except comfort measures and the life expectancy for a child with infantile Tay-Sach’s disease is typically four to five years (Ainsworth, 2011). The physician would need to emphasize that maternal age or lifestyle does not have any part in the cause of this diagnosis. The physician would then need to explain the options available at this time which are carrying the child to term or terminating the pregnancy via therapeutic abortion (Tay-sachs.org). Depending on the parent’s decision, should they choose to carry the child, they can also choose to care for the infant or place it for adoption. After the physician has spoken with the family, the RN would need to be there for the family, not only to listen, but again to answer any questions they may have.

The cell is the basic unit of life in eukaryotic organisms. The inside of the cell is comprised of multiple subunits called organelle that all function together to maintain homeostasis and function. Each individual organelle is assigned a specific task and purpose for the cell. These tasks and purposes can range from structural support all the way to the disposal of malfunctioning organelle.1 Similarity to a machine, if one part stops functioning to full potential, serious if not fatal consequences can be faced. A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome.1 Recent studies and research have been investigating the causes and pathways Tay-Sachs disease with great success, which is amazing news for the scientific community.

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

Warren Tay who was a British ophthalmologist physician, he noticed a cherry red spot in the retina of a one year old child who was suffering from mental and physical retardation. Bernard Sachs who was an American neurologist noticed an extreme swelling of neurons in autopsy tissue from affected children. He also founded that the disease comes from the families who is Jewish origin. Both physicians were describing the same disease, but it was not until the 1930s that the material causing the cherry-red spot and neuronal swelling was identified as a ganglioside lipid and the disease could be recognized as an "inborn error of metabolism." The term "ganglioside" was coined because of the high abundance of the brain lipid in normal ganglion cells

B) Differences between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

Since children lack the HEXA-A gene it causes progressive damage and eventually the nervous system will shut down because it can no longer produce vital neurons needed to function the nervous system and life. Beta-hexosamindinidase is located in the lysosomes, which are structures in cells that act as recycling centers and breaking down the toxic substance. Beta-hexosamidnidase role is toxic and fatty substances called GM2 ganglioside. If the gangliosides become overpowering or too much, can cause destruction of the neurons. The excessive storage of the gangliosides in lysosomes is another factor that causes Tay-Sachs. Tay-Sachs occurs usually when the individual lacks the protein hexosamindinidase A and defected and alterations on chromosome 15 (specifically 15q23-q24). More than 50 mutations having been discovered on chromosome 15 and HEXA-A enzyme. The mutation can vary as in deletion, insertion, and splitting in which each mutation alters the protein. The mutation and disorder cause a decrease in enzymes activity. The severity of the disorder depends on the degree of the enzyme activity and deficiency. For example, one mutation includes, the mutation includes a G-to-T substitution at the 3-inch end of intron 5, which makes a short mRNA. Then skipping exon 6 and the polypeptide lacking 34 amino acids. (Tanaka

Tay Sachs Disease, or TSD, is a fatal genetic disorder that result in the degeneration of the nervous system. TSD is presented in three forms, those being classic infantile, juvenile and adult late-onset. The most commonly seen form of TSD is that of classic infantile Tay Sachs Disease. In the classic infantile form, infants generally experience their first symptoms by 6 months of age. Death of infants with TSD is typically by age 5. The symptoms that TSD infants will experience prior to death include: an onset of retardation, paralysis, dementia, blindness and reoccurring seizures. The absence of hexosaminidase-A, or what we will refer to as Hex-A, is the cause

The term ganglioside lipid was thought of because of the high abundance of the brain lipid in normal ganglion cell, a type of brain cell. Other names Tay Sachs disease is known by are B variant GM2 gangliosidosis, GM2 gangliosidosis, type 1, HexA deficiency, Hexosaminidase alpha-subunit deficiency, (variant B), Sphingolipidosis (Genetics Home Reference, 2017). Tay Sachs disease is diagnosed by prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can diagnose Tay Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease. CVS is performed between 10 and 12 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen. Amniocentesis is done between 15 and 20 weeks of pregnancy and involves extracting a sample of the fluid surrounding the fetus using a needle through the mother’s abdomen (Herndon, 2016). If a child is displaying symptoms of Tay Sachs disease, doctors and get a family history, do blood work, tissue sample or do an eye exam to see if the child has a red spot near the

Tay-sachs disease is a rare hereditary disease that progressively destroys nerve cells in the brain and spinal cord, caused by an absence of an enzyme which leads to a buildup of fats in the nerve and brain cells. Which ultimately slowly destroys nerve and brain leading to the loss of mental and physical abilities such as speech, movement, sight and can lead to death (Freedman, 2009, p.8). Unfortunately there’s no cure but there is treatment but this treatment does not consist with preventing anything it's more for support and comfort. This treatments are: Medication can be used to reduce your child's symptoms. Respiratory care because children with Tay-Sachs disease are at high risk for lung infections accumulated mucus in the lungs that can cause breathing problems, but there is therapy called chest physiotherapy (CPT) that reduces the mucus and with our trained therapist we can train family members to perform CPT at home. Feeding tubes because of respiratory issues by inhaling food or liquids into their

The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper human conduct, behavior and decisions in dealing with Tay-Sachs. The lawyer or legal practitioner informs the involved parties about the current laws and court decisions concerning or affecting the management of genetic disorders, such as Tay-Sachs. And the nurse carries out the detailed instructions of the geneticist and pediatrician as well as incorporates the guidelines inputted by the lawyer.

Tay Sachs Disease is one of the most deadly and rarest disease known. This disease is shown in adults and infants but it starts as a new born(Cure Tay Sachs Fundation). How does this disease happen you may ask? According to The National Human Genone Institute, it explains the following. Tay Sachs is a genetic disorder that develops because the hexosaminidase enzyme doesn’t exist in the victim’s blood cycle ( Michael Pusaeri 2007) .This enzyme is a fatty substance (Cure Tay Sach Foundaion) that has a very big job in the human cycle. Without this enzyme, the lipids tend to go to the nervous system. Next, then it causes damaged cells in the blood stream. When the lipids store in the brain it cause’s serious neurological and spinal cord problems .The nervous system is taking on too much pressure that doesn’t let the body function correctly.

The rate of Tay – Sachs disease is high amongst Ashkenazi Jews. In United States, 1 in 27 Ashkenazi Jews is a recessive carrier. French Canadians and the Cajun community of Louisiana have an occurrence similar to the Ashkenazi Jews. Also Irish Americans have 1 in 50 chance of being a carrier. In general population of the United States the incidence is approximately 1 in 320000. (Frisch,

Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell.

In 1981 Weissbluth et al. reported the first case of extensive MS associated with GM1 ganglio sidosis 9. Since then some other cases have been reported linking other IEM with MS and GM1 gangliosidosis. There are 54 reported cases of extensive MS with various IEM, in which 25 cases are associated with Hurler syndrome, 17 with GM1G, 9 in Hunter syndrome, 2 in ᶐ-mannosidosis, and 1 with Niemann-Pick disease6. Of these 25 cases of Hurler syndrome, 19 have been reported in a single study by Gonzalez et al8,10. However in recent years reporting of extensive MS in GM1G is more frequent in comparison to Hurler syndrome. By 2006, only 39 cases LySD associated with MS was reported, of these 24 patients had Hurler disease, and 11 patients had type 1

They may develop alone or in combination, but as the disease progresses, all are usually present. There is no true paralysis. The symptoms are always bilateral but usually involve one side early in the illness. Because the onset is insidious, the beginning of symptoms is difficult to document. Early in the disease, reflex status, sensory status, and mental status usually are normal. Postural abnormalities (flexed, forward leaning), difficulty walking, and weakness develop. Speech may be slurred. Autonomic-neuroendocrine symptoms include inappropriate diaphoresis, orthostatic hypotension, drooling, gastric retention, constipation, and urinary retention. Depression is also prevalent.