How Genetic Testing Helped Our Family.
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My beautiful family is a family of Mutants. And if my daughter Temperance knew that she’d probably think that was awesome because one of her favorite things is the Teenage Mutant Ninja Turtles. Why do I call us Mutants? Because we all have MTHFR short for methylenetetrahydrofolate reductase, a gene mutation.
We have had unexplained health issues, non-stop until recently. After years of researching symptoms and having a pretty good idea what was wrong with us but not getting help from many, many doctors I finally made my husband and I an appointment at a Functional Doctor. Now I could preach Functional Medicine all day but I touch on that another day.
The first thing our Functional Doctor did was run genetic testing on both of us. Something I had asked for many times and the past Doctors seemed to think was unnecessary. Well, it was very necessary. We found out that we both have a genetic mutation that causes a long list of health issues. We had both been dealing with these issues since we were children and could have been treated.
Health issues we have faced:
- Chronic Fatigue
- Irritable Bowel Disease
- Blood Clots
- Night Terrors
- Sleep Walking
- Nocturnal Enuresis
As you can see we have faced many health issues. And most of them have been extremely difficult to deal with. We asked for help many times but many doctors do not try to diagnose, most will try and treat symptoms. It is very important to find out what you are treating.
Why is the diagnosis so important?
- It’s important for you to know what you have before you can treat it. You have to know what disease or process you have so you know what to expect, what to watch out for, and what you can do about it. Throwing medications at symptoms just mask them but doesn’t get at the root of the problem.
- Not knowing what diagnoses are being considered is equivalent to searching for a needle in the haystack: It’s aimless and dangerous. Tests should be done to narrow down diagnoses, or else results are going to be obtained that don’t make sense, and you still won’t know what you have or what to do about it. You will trade one symptom for another. Why would anyone want to throw pills at a problem without knowing what they are treating?
So, why are genes important and why should we get them tested?
Our gene structure dictates how our body grows and regulates. When genes are normal, they work properly. When genes are abnormal or damaged, they can lead to disease. These are called gene mutations, or changes. Some changes run in families (hereditary), and some happen by chance. A gene mutation can be the sole cause of disease. However, most diseases occur from a mix of genetic and environmental factors.
Genetic testing looks at your genes to check for any mutations.
- To diagnose a disease or a type of disease.
- To determine the cause of a disease.
- To determine treatment options for a disease.
- To find your risk of getting a certain disease that possibly can be prevented.
- To find your risk of passing a disease to your children.
Some benefits of genetic testing include:
- You might be less worried about getting a certain disease.
- You might be able to change your lifestyle to reduce your risk.
- You might know how to move forward with family planning.
- You might be able to get treatment to prevent the disease.
- Your doctor will know how often to check for the disease.
A gene mutation can be the sole cause of disease. However, most diseases occur from a mix of genetic and environmental factors. Genetic testing looks at your genes to check for any mutations. The test is done with a sample of blood, saliva, or tissue.
- Diagnostic testing. If you have symptoms of a disease that may be caused by genetic alterations, genetic testing can reveal if you have the suspected disorder. Examples of disorders for which genetic testing may be used to confirm a diagnosis include adult polycystic kidney disease, iron overload (hemochromatosis) and Charcot-Marie-Tooth disease.
- Presymptomatic and predictive testing. If you have a family history of a genetic condition, undergoing genetic testing before you have symptoms may show if you’re at risk of developing that condition.
- Carrier testing. If you have a family history of a genetic disorder — such as sickle cell anemia or cystic fibrosis — or you are in an ethnic group that has a high risk of a particular genetic disorder, you may choose to have genetic testing before you have children. An expanded carrier screening test can detect genes associated with a wide variety of genetic diseases and mutations.
- Pharmacogenetics. If you have a particular health condition or disease, this type of genetic testing may help determine what medication and dosage will be most effective and beneficial for you.
Genetic Testing pinpointed our mutation and gave us answers to what diseases we have and if we would pass them on to our children. This has been a huge help for our family. We have been able to start treating our illnesses and now have a clear understanding of what we can expect in our future. It takes a weight off my shoulders to know I can help my children live a healthier life. And I can better understand what my family is dealing with. In a way, it has brought us closer together. My husband and I had our testing done through our doctor. But if had I known about the 23andme option I would have gone that route. It would have saved us money. We do have insurance but the cost of 23andme is low considering all you get with it.
What do you think about genetic testing? Could you benefit from being tested?
I would love to hear from you.