Let's learn exactly about genetic disorders

We all inherit things from our parents, right? Things like skin color, hair texture, eye color. These are things we get from our parents' genes. But along with these good things, some diseases can also be inherited from our descendants. We simply call such diseases that come through genes 'Genetic Disorders'. It is very important to know about this, because it will help us make decisions about ourselves and our children's future.

What exactly is a genetic disorder?

To understand this, let's first talk a little about genes and DNA. Imagine that our body is a big building. There is a complete blueprint for building that building, a big book that includes every little detail. Similarly, inside every cell in our body, there is a set of instructions that contain information about how that cell should work, what we look like, and all our characteristics. This set of instructions is what we call DNA (Deoxyribonucleic acid) .

We call 'genes' the parts of this long chain of DNA that give specific instructions. For example, there is a gene that determines the color of your eyes, a gene that determines the texture of your hair, etc.

Now, what happens if there is a change, damage, or error in the instructions in these genes? Then it affects the normal functioning of the body. Such a harmful change in a gene is called a mutation . We call diseases caused by such a mutation or by a change in the size of the structures (chromosomes) that contain our genes 'genetic diseases'.

What are the main types of genetic diseases?

Genetic diseases can be divided into three main types. These classifications are based on how they occur.

What are the most common genetic diseases?

There are thousands of genetic diseases. Some are very common, some are very rare. Let's look at some of the more common diseases that fall into the three categories we discussed earlier.

What are the causes of genetic diseases?

As we discussed earlier, the primary cause is a mutation in the genes. Let's understand this a little more simply.

Our genes are like a set of instructions for making the proteins our bodies need. These proteins control almost every process in our bodies. When a gene has a mutation, these instructions go wrong. Then two things can happen:

1. Either the necessary proteins are not produced at all.

2. Or there is a defect in the proteins that are produced, so they do not work properly.

Both of these factors disrupt the body's normal processes and cause disease. Some mutations are inherited from generation to generation. But sometimes, without any family history, a person can develop a new gene mutation during their lifetime. There are several environmental factors (mutagens) that affect this.

• Exposure to chemicals: Things like some pesticides and chemicals released from factories.
• Exposure to radiation: Excessive exposure to radiation such as X-rays.
• Smoking: Chemicals in tobacco can damage DNA.
• Harmful ultraviolet rays from the sun (UV exposure): These can cause conditions such as skin cancer.

What are the symptoms of these diseases?

The symptoms of a genetic disease vary greatly. They depend on which gene is affected, which part of the body is affected, and the severity of the disease. Some symptoms are visible at birth. Others may appear in childhood, adolescence, or even adulthood.

These are some of the common symptoms:

• Behavioral changes or problems.
• Difficulty breathing.
• Cognitive deficits, such as the brain's inability to process information correctly.
• Developmental problems, such as delays in speech or social skills.
• Difficulty swallowing food or inability to absorb nutrients properly.
• Any abnormalities in the limbs or face, such as missing fingers or cleft lip and palate.
• Difficulty moving due to muscle stiffness or weakness.
• Neurological problems such as seizures or stroke.
• Reduced body growth or short stature.
• Vision or hearing impairment.

How do you find out if you have a genetic disease?

If someone in your family has a genetic disease and you suspect you have it, it's best to see a doctor and seek genetic counseling . Genetic testing can often confirm whether you have a genetic mutation related to a particular disease.

There are several tests that can be done by someone who is starting a family, or a pregnant mother.

Carrier testing

This is a blood test. It can determine whether you or your partner are carrying a defective gene for a genetic disease without showing any symptoms (are carriers). This test is a great option for anyone planning to have a child, even if there is no family history of the disease.

Prenatal screening

This test can determine the risk of a baby in the womb having a common chromosomal disorder like Down syndrome by examining a blood sample taken from the pregnant mother.

Prenatal diagnostic testing

This can help determine more precisely whether the baby has a genetic disease. For this, a small amount of amniotic fluid is taken and tested. This test is called amniocentesis .

Newborn screening

This test is performed on a small blood sample taken from the heel of every newborn baby. It is also routinely performed in hospitals in Sri Lanka. This allows for the early detection of some treatable genetic diseases and allows the child to receive the necessary treatment as soon as possible.

What are the treatments for genetic diseases?

This is what we all want to know. But the truth is, most genetic diseases cannot be completely cured. But, don't worry. While the disease cannot be completely cured, there are many treatments that can help control symptoms, prevent the disease from getting worse, and make life easier.

The type of treatment you need will depend on the nature and severity of the condition.

• Chemotherapy treatments, such as medications to control symptoms or to control abnormal cell growth in conditions such as cancer.
• Nutritional counseling or dietary supplements to help your body get the nutrition it needs.
• Physical therapy, occupational therapy, or speech therapy may be needed to maintain maximum ability.
• Blood transfusion to restore healthy blood cell levels.
• Surgery to correct abnormal structures or treat complications.
• Specialized treatments such as radiation therapy for cancer.
• Organ transplant : Replacing a dysfunctional organ with a healthy one.

What is the future like for someone living with this kind of disease?

It's hard to give a single answer to this question, because it varies greatly from disease to disease. A child with some very rare and severe congenital diseases, such as anencephaly, may only live a few days.

But a condition like an isolated cleft lip does not affect life expectancy. However, they may still need regular specialist medical treatment and care to live a normal life. The important thing is that, with proper medical advice and management, many people with genetic diseases can live meaningful, good lives.

Can a genetic disease be prevented?

There are very few things we can do to prevent genetic diseases, because they are in our DNA. However, through genetic counseling and testing, you can learn about your risk. You can also find out how likely it is that your children will inherit certain diseases. This knowledge can help you make important decisions, such as planning a family.