Health

Genetic Testing. What is it? Why should you do it? What are the benefits?

How Genetic Testing Helped Our Family.

Thrift Family, Moma Thrift

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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.

 

Functional Medicine

 

Health issues we have faced:

  • Lupus
  • Rheumatism
  • Endometriosis
  • FIbromyalja
  • Hypothyroidism
  • Chronic Fatigue
  • Irritable Bowel Disease
  • Miscarriage
  • Eclampsia
  • Blood Clots
  • Night Terrors
  • Sleep Walking
  • Seizures
  • Asthma
  • Eczema
  • Allergies
  • Nocturnal Enuresis
  • Migraines
  • Depression
  • Anxiety
  • Neuropathy

 

 

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?

  1. 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.
  2. 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.

Genetic Testing, Mutation, Disease

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.
Moma♥Thrift

 

12 thoughts on “Genetic Testing. What is it? Why should you do it? What are the benefits?

    1. While it seems expensive up front. It has literally saved us thousands. So many years of doctor bills that would not have been necessary. And prescriptions were written out of thin air because they did not take the time to test us. This is what many people deal with because we have many uneducated doctors. And we find ourselves haveing to do their job for them. Our medical industry needs to get back to the basics. It’s really very simple. They have just been taught to do and think one way. We are all so different. We cannot be treated as a group. But really all they need to do is some simple testing. And most of the time this is covered by insurance. And really, what is $79 when you easily spend that a month on prescriptions, over the counter medication, different diets and doctor appointments that wouldn’t be necessary if we knew how our body worked. Whew, anyway lol. I just hate seeing people in pain, and treatable. ♥

  1. Wow, I never knew genetic testing can do so much for your health. It IS quite expensive, but I believe it’s worth a shot when it can save your life. Thanks for this detailed post, momathrift!

  2. I have always wanted to do genetic testing- my father was adopted so we don’t know much about his family and conditions- plus I had a friend growing up that had Cystic Fibrosis and loved learning about how kids get Cystic Fibrosis and I have had many friends that have had children with disabilities. I honestly want to do genetic testing.

    1. Thankfully it’s very simple to do now. Let me know if you have any questions. I would love to help you out. Also, the 23andme is on sale for Father’s day. You really only need the cheaper version to get all the info.

      Thanks for stopping by and commenting 🙂

  3. WOW, moved! I have never heard of MTHFR and appreciate the info. Most people never give thought to genetic testing, bet they will now. Life changing indeed! I admire you your courage for sharing your family’s story.

    1. Thank you 🙂
      We have been through a lot. And I have seen so many struggle. I would love to be able to help others so that they do not have to go through what we have.
      There are many things we could have done differently. But I am so glad we know now.

      Thanks for stopping by!

  4. Wow, I haven’t done a genetic test but I remember getting scared when I had to speak to the doctor (normal check up) about any genetic defects that might run in the family. This is partly due to the fact that I was 38 when I was pregnant with my daughter and my husband was in his 40s. So, because of our age they had to screen us. Luckily nothing came back positive and my daughter is healthy. I feel so blessed that I have a healthy child. It is so hard being a mom, I can’t imagine having to also deal with special needs.

  5. Genetic testing is so important, though I never actually had to do it until I was pregnant with my daughter. She’s now 2 years old but I had her when I was 38 years old and my husband was in his 40s. We both had to get screened and tested because of our late age. Needless to say, we did not experience any issues with her. I deal with depression and I worried that she might get this from me. But, she is great and super happy….like over the top. It blows me away. I am just so thankful that she came out okay. It’s so hard being a mom as it is. I just can’t imagine having to also deal with the stress and worry that special needs tends to bring.

    Great post and this is my second comment by the way. The first one disappeared. I hope this goes through! <3

    1. Thank you for stopping by and commenting.
      I’m glad you’re daughter is healthy and happy 🙂
      It’s great that Doctors take the time to screen. You just never know what you may deal with and it’s good to have as much information as possible.
      I hope that in the future the medical community gets smart and starts screening babies right away. It’s really very simple and noninvasive. That way we know from the beginning what affects our children and how to better treat them.

      Thanks again for your comment 🙂

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