The genes you get from each parent make up half of your genes. You may get a gene variation from one parent or both. Mutations are problems in the DNA that can cause rare genetic disorders. A genetic problem may be more likely to happen to you if you do this.
Some show signs at birth, while others appear over time. If your genes change in a way that is bad for you, then it is a mutation. If you have too little or too much genetic material, this is also called a genetic disease. DNA (deoxyribonucleic acid) makes up genes. Genes store directions for how cells work and the traits that make you unique.
Causes Of Rare Genetic Disorders
Chromosomal: This type changes the chromosomes, which are the parts of your cells that hold your genes and DNA. People with these diseases are missing or have extra copies of chromosome material.
Complex (multifactorial): These diseases are caused by gene changes and other things. Some of these are chemical exposure, diet, some medications, and using tobacco or booze.
Single Gene (Monogenic): Diseases caused by a single gene change are called single-gene (monogenic) diseases.
What are some common genetic diseases?
There are many kinds. Among them are:
1. Chromosomal Disorder
Ø Trisomy 21 causes Down syndrome.
Ø The FragileX disease.
Ø Having Klinefelter syndrome.
Ø The Triple-X disease.
Ø The Turner disease.
Ø 18 trisomies.
Ø 13 trisomies.
2. Complex (multifactorial) Disorders
Ø Early onset Alzheimer’s.
Ø Joint pain.
Ø Most of the time, autism spectrum disease.
Ø Most of the time, cancer.
Ø Heart and artery problems.
Ø Having diabetes.
Ø head pain from migraines.
Ø Having spina bifida.
Ø Isolated heart problems at birth.
3. Single Gene (Monogenic) Disorders
Ø With cystic fibrosis.
Ø being deaf from birth (congenital).
Ø Muscular dystrophy in Duchenne.
Ø This is a type of high-cholesterol disease called familial hypercholesterolemia.
Ø Iron buildup is known as hemochromatosis.
Ø There is one type of neurofibromatosis.
Ø Sickle cell disease.
Ø The Tay-Sachs disease.
Is There are other kinds of Genetic Rare Diseases?
Rare disorder can also be caused by problems with genes. Not more than 200,000 people in the U.S. have any of these diseases. Experts say that there could be up to 7,000 of these illnesses.
List of Rare Diseases Are:
Ø AA is amyloidosis.
Ø ALD stands for adrenoleukodystrophy.
Ø Having Ehlers-Danlos disease.
Ø Diseases of the mitochondria.
Ø The Usher disease.
Ø Signs and Reasons
In What Ways Do Rare Genetic Diseases Start?
To understand why genetic disorders, happen, it helps to know more about how DNA and genes work. A lot of the DNA in your genes tells your body how to make proteins. These proteins help your cells work together in ways that keep you healthy.
When a mutation happens, it changes the directions in the genes for making proteins. There might be proteins that are missing. Or the ones you already have don’t work right. Some environmental factors, also known as mutagens, that might cause a DNA mutation are:
Ø Exposure to chemicals.
Ø Radiation exposure.
Ø Using tobacco.
Ø UV light from the sun.
What Are the Signs Of Genetic Diseases?
Ø Changes or interruptions in behaviour.
Ø Having trouble breathing.
Ø Cognitive deficits happen when the mind can’t work the way it should.
Ø developmental setbacks that make it hard to talk or interact with other people.
Ø Problems with eating and digestion, like not being able to digest food or having trouble chewing.
Ø problems with the limbs or face, like missing fingers or a cleft lip and mouth.
Ø Problems with movement are caused by weak or stiff muscles.
Ø Problems with the brain, like seizures or strokes.
Ø Not growing well or being short.
Ø Loss of sight or hearing.
How to Diagnose and Test Rare Genetic Disorders
How Do Genetic Diseases Get Found?
If a genetic problem runs in your family, you might want to talk to a genetic counselor to find out if genetic testing is right for you. Most of the time, lab tests can tell you if you have gene mutations that cause that disease. A lot of the time, having the gene does not mean you will get it. Genealogists can tell you what your risk is and what you can do to stay healthy.
Ø It may be important to get a DNA test for genetic disorders before having a family if there is a history of them in the family. Some options are:
Ø This blood test checks to see if you or your partner have a trait that can cause genetic diseases. This is what everyone who is thinking about getting pregnant should do, even if there is no past in their family.
Ø People who are pregnant generally have blood tests done as part of prenatal screening. These tests tell the person how likely it is that their unborn child will have a common chromosome disorder.
Ø Tests that are done before birth can tell you if the growing baby has a higher chance of getting certain genetic diseases. For prenatal tests, a sample of fluid from your uterus is taken (called an amniocentesis).
Ø Newborn screening: All kids born in Ohio get this test, which takes a small amount of blood from your baby. Finding genetic diseases early in life can help your child get the care they need when they need it.
How to Manage and Cure Rare Genetic Disorders
What Does It Look Like To Treat Genetic Disorders?
There is no fix for most genetic diseases. Some diseases can be treated in ways that may slow their growth or make them less of a problem in your life. What kind of treatment you need depends on what kind of sickness you have and how bad it is. We may not be able to help others, but we can keep an eye on them medically to try to spot problems early.
You might need:
Ø Either medicines to control the symptoms or treatments to slow the growth of abnormal cells.
Ø You can get the nutrients your body needs through nutrition counseling or food products.
Ø Get physical, occupational, or speech training to help you do the best you can.
Ø blood transfer to get the number of healthy blood cells back to normal.
Ø Surgery is used to fix things that don’t work right or to treat problems.
Ø Different kinds of treatments, like radiation therapy for cancer.
Ø Transplanting an organ from a healthy giver to a body that doesn’t work right is called an organ transplant.
The outlook or prognosis
How do things look for people who have DNA disorders?
The outlook is not good for some illnesses, like some rare genetic disorder. Most babies born with anencephaly only live for a few days. Some diseases, like a single cleft lip, don’t change how long a person lives. But you might need regular, specialized care to feel good.
How Do Deal With Having a Rare Genetic Disorder?
With a genetic problem, you may need medical care a lot of the time. It’s important to see a doctor who specializes in the human disease. They have a better chance of knowing which methods will work best for you.
You might also gain from other people’s help. There are often neighborhood or national support groups for people with genetic condition. You can get help from these groups to find tools that will make your life easier. They might also have events where you can meet other families who are going through the rare genetic disorders.
A message from iLiOS Health Center
When a mutation happens in your genes or chromosomes, you get a rare genetic disorders. Some illnesses show signs at birth, while others show signs over time. Genetic testing can tell you more about how likely it is that you will have a genetic disease. If you or someone you care about has a genetic disorder, you should see an expert to help you. Support groups might be able to give you more knowledge and help.
