Tay-Sachs Disease

Tay-Sachs disease cannot be prevented but genetic testing can help detect if the unborn child is carrier of the disease. Learn more about this disease right here.Tay-Sachs affects the central nervous system and is known to be a neurodegenerative disorder. It is very essential that you stay in touch with your doctor at every stage of your pregnancy if you have Tay-Sachs in your pregnancy. Here we have offered you details about Tay-Sachs that shall help you deal with it better. In this articleWhat is Tay- Sachs Disease?How Is It Diagnosed?Causes Behind Tay-Sachs DiseaseRisk Factors InvolvedSymptoms Associated with Tay-SachsDiagnosis for Tay-SachsTay-Sachs TreatmentWhat is Tay- Sachs Disease?Tay-Sachs disease is a genetic disorder that affects Ashkenazic Jews, i.e. Jews of East European descent. It results in fatal brain damage. The manifestation of this disorder will require a matching gene from both parents. A random marriage of any two individuals from this ethnic group has a 1 in 900 chance of uniting two carriers. Thus while the parents may not be affected by the disorder, every child born of such a marriage has a 25% chance of having the disorder.How Is It Diagnosed?The disease can be diagnosed in the early stages of pregnancy through either blood tests or amniocentesis.Causes Behind Tay-Sachs DiseaseChromosome 15 is known to cause Tay-Sachs. This is a defective gene that holds back the body from making sufficient protein known as hexosaminidase A. gangliosides are some chemicals that build up in the brain cells in absence of this protein. This disease destroys all brain cells.Tay-Sachs is known to be a hereditary disease that is passed on through other members. You need to get 2 copies of this defective gene from each of the parents. Your child becomes a carrier of the disease if only one of you pass this defective gene. While he or she may not be affected by it, he or she might pass it down to her children.Risk Factors InvolvedYou can actually can do very little to prevent this disease. You need to go for genetic testing to know if your unborn child is a carrier of the same. If your spouse is a carrier of the disease, you can decide whether to have children at all with the help of genetic testing.Symptoms Associated with Tay-SachsChildren suffering from this disease generally have their central nervous system damaged in the uterus. The symptoms may appear in the 12 to 24th week of pregnancy. Even though the progression is very fast, it tends to pass out by the time he or she is 5 years old. Some of the symptoms are stated below:Decrease in muscle toneBlindnessDeafnessRed spot on the retinaDevelopment delays like socialisationSeizuresLoss of a muscle function or paralysisSlow growth and developmentSome of the emergency symptoms that you need to look for are as follows:Difficulty in breathingSeizuresIn these above two cases you need to call the emergency or get in touch with your doctor at the earliest.Diagnosis for Tay-SachsChorionic Villus Sampling (CVS) and other prenatal tests like amniocentesis can help in the diagnosis. Genetic testing is carried out when one or both the parents are carrier of the disease.Chorionic Villus Sampling (CVS) is performed between 10-12 weeks. Cell samples are taken from the placenta through the abdomen or vagina. Amniocentesis is performed from the 15-20 weeks. In this test, samples of fluid are extracted from around the foetus with the help of a needle from the abdomen.Your doctor shall suggest physical examinations and ask for your family history, if he thinks your unborn child too has contracted the same. Tissue samples and blood tests help confirming the reports.Tay-Sachs TreatmentUnfortunately, there are no cures available for Tay-Sachs. It is very essential that you stay calm and comfortable all through your pregnancy in this case. Treatment procedures known as “palliative care" is also aimed at helping you stay calm. Medical procedures are performed to reduce your pain or control seizures. Respiratory care offered, helps in reducing the build up of mucus in your lungs.It is very important that a woman with Tay-Sachs receives immense emotional support from her family in pregnancy. Group supports shall also help you cope with your ailments better in this case. Taking care of a child, who is sick can be extremely challenging. Family support is extremely crucial in such cases.What is Tay-Sachs disease? How can Tay-Sachs be prevented? How to detect Tay - Sachs disease? Discuss here.