Genetic disorders typically affect your little one when he is born. However, the effects of such conditions aren’t noticeable until he is a bit older. Usually, such conditions occur when you or your partner are carrying a particular gene. Tay -Sachs disease is one such fatal disorder that passes from one generation to the other. Here, we look at the causes, symptoms and treatment options for children with Tay-Sachs disease. So, read on and learn more about this condition and how it affects your child below.
What Is Tay-Sachs Disease?
Tay-Sachs disease is a genetic disorder that causes gradual degradation or degeneration of the nervous system. It usually occurs in children. A baby born with this disease initially develops in a healthy manner. However, as the child reaches the age of six months or above, the symptoms of the disease begin to show themselves.
If you and your partner both have the genes for this disease then your child will suffer from Tay-Sachs disorder. The reason is that your child will get one gene each from both you.
However, if any one of you is a carrier, then your child will be healthy. But, he might become the carrier of this disease (1).
Causes Of Tay-Sachs Disease:Sponsored
- Tay-Sachs disease is a genetic disorder. It occurs due to the mutation of a gene called HEXA gene. Mutation is a permanent change in the sequence of DNA that forms a gene. Therefore, the mutation of any gene causes changes in the proper functioning of that gene resulting in the disorder.
- The mutation of the HEXA gene causes non-production of an enzyme called Beta- Hexosaminidase-A which breaks down GM2 Ganglioside (a fatty substance). As a result, GM2 Ganglioside accumulates in the body cells, particularly in the brain and nerve cells that gradually destroys these neurons.
- Beta-Hexosaminidase A enzyme is located in Lysosomes, and thus Tay-Sachs disease is also called Lysosomal storage disorder or GM2-Gangliosidosis.
Symptoms Of Children With Tay-Sachs Disease:
The symptoms of Tay-Sachs disease occur after the child reaches the age of 5-6 months. Here, we list some of the most common symptoms of the condition:
- Low muscle tone
- Muscle weakness
- Sudden contraction of large muscles of the body while the child is asleep
- By the time the child is 8-10 months of age, he or she finds difficulty in performing motor skills viz. Sitting etc.
- Diminished attentiveness
- Slow growth
- Increased startle reaction
- Delayed eye contact
- Eye movement is also less
- When the child reaches the age of one year, he might start getting seizures
Children with Tay-Sachs disease have a short life span of just 2-4 years. The child does not survive more than this age and dies mainly due to Pneumonia.
Diagnosing Tay-Sachs Disease:
Tay-Sachs disease is diagnosed at two stages. You can either go for a test at the time of your pregnancy itself, to avoid the birth of an affected child. People who are carrier couples go for a test during pregnancy.
Also, if you do not know whether you are a carrier parent, but your child is showing severe symptoms of this disease, then also you can take your kid for a Tay-Sachs test.
[ Read: Growth Disorders In Children ]
1. Pre-natal Tests:
The doctor suggests a blood test to identify Tay-Sachs disease in patients or possible carriers. The blood test is called the carrier screening test. It is quite essential to go for this blood or carrier screening test. Otherwise, the genes carrying this disease remain in the family history for generations, and no one comes to know about it till a child is born with the disease.
2. Tests After Child-Birth:
If your child is showing strong symptoms of this disease, then immediately take him for a blood test to diagnose Tay-Sachs disease.
Therefore, if you and your husband are carriers of the Tay-Sachs genes, then you should immediately consult an expert in the field of genetics. The doctor will guide you about the probability of the conception of a Tay-Sachs disease child.
Any such couple can go for a test in pre-natal stages itself, to avoid child.
Following are the two common tests for the same:
You can go for this test during the sixteenth week of your pregnancy. In this test, the pathologist will take some amount of amniotic fluid from your body and will test for any genetic disorder in the growing foetus during pregnancy.
[ Read: Genetic Disorders In Children ]
- Chorionic Villus Sampling (CVC):
You can go for this test in the 10th Or 13th week of your pregnancy. In this test the expert will take some cells from the placenta and test them for detecting the disease.Also, if your fetus is detected with this deadly disease in the early months of pregnancy, then the doctor might suggest you to terminate the pregnancy as a part of healthy family planning process. The doctor will also suggest you how likely it is for the subsequent pregnancies to have this disorder.
Your health care provider will ask you about your family history in detail and later on examine your baby and conduct the following blood tests:
- Blood test to examine the levels of enzyme Hexosaminidase
- The Eye test to examine a cherry-red spot in the macula reason of eyes.
So, if you are pregnant and are a carrier of this disease, then please consult your doctor for further advice and a healthy family planning. Also, do go for the Tay-Sachs disease tests to avoid any future complications for yourself and for your baby.
[ Read: Marfan Syndrome In Children ]
Treating Tay-Sachs Disease:
Unfortunately, there is no treatment for Tay-Sachs disease. However, there are many support groups that work to comfort the children suffering from this fatal disease.
Are you or your husband a Tay-Sachs carrier? How did you plan your baby? What did your expert suggest ? How did he help you to have a healthy family planning? Do share your story with other mommies. Also, if you find this post useful, please share your thoughts and drop a comment below.
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