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  • I just noticed I have DIO1 homozygous variant. When I looked it up it indicates thyroid issue. Coincidently, I just recently asked my doctor to refer me to an Endocrinologist because I have been on a supervised diet for about a year and have not lost one pound. My weight will fluctuate up and down as much as 20 lbs. in a month. I generally refer to it as swelling. Does anyone on have this gene, or insight? Does anyone know how much it costs to have a genetic counselor to interpret my data? My dad has C282Y homozygous Hemochromatosis, I am a carrier. I am concerned now, my fatigue, and inability to lose weight may be linked with these genetic components. Any advice would be helpful.

    - 9 years, 5 months ago

    • BD6889    1

      I am seeing a genetics MD now. She is testing me for mitochondrial DNA issue due to long standing fatigue issues in me and other family members. I will find out the results in a few weeks.

      - 8 years, 7 months ago.  

    • BD6889  

      I am seeing a genetics MD now. She is testing me for mitochondrial DNA issue due to long standing fatigue issues in me and other family members. I will find out the results in a few weeks.

      - 8 years, 7 months ago.  

    • BD6889  

      My genotype for DIO1 rs2235544 is AA. I have many symptoms of low thyroid, my mom has been on thyroid supplements for 50 years and my sister has Hashimoto's thyroiditis. My labs of all of the thyroid tests here are all in the "normal' range but all of us have overweight issues, and fatigue, etc. I will review my results in reference to @VE6992's suggestions.

      Does anyone know where to get a consult in Maryland? This is so confusing but exciting that I may figure out what is going on with me.

      Thanks for everyone who contributes their knowledge and insights here.

      - 9 years, 2 months ago.  

    • TT3563  

      Please look into your microbiome as well.
      Www.SevenStreamsToWellness.com

      - 9 years, 3 months ago.  

    • FX4611    2

      Your swelling is most likely inflammation and edema. The inflammation and edema could be coming from another problem, but it could exacerbate your thyroid issue. Some people have great success in addressing thyroid issues by eliminating wheat, barley, rye, and all dairy except for butter, and other foods. You might learn more by going to the Paleo Mom website and seeking thyroid information. The person on the site is a PhD with a lot of personal experience with problems that led her away from her career plans to become a physician. Just reading about how she went about discovering the source of her very serious problem is fascinating. She went on to become an expert. The Autoimmune Protocol is on this page. https://www.thepaleomom.com/start-here/the-autoimmune-protocol/. Go there, bookmark it for later reference, then search thyroid. Having the gene is one thing. Environmental factors may play in a role in whether or not it is expressed, and the extent of the expression.

      - 9 years, 4 months ago.  

    • VE6992    4

      @VD7457,
      Please do your research as ZQ recommended. Post thyroid cancer, I have fired endocrinologists and I refuse to ever see another one. In my world:
      ENDO = Everything Not Done Optimally!
      It was my first endo who made me VERY ill and his answer to everything was see a specialist! I hit my ins catastrophic cap 2 years in a row thanks to all the specialists and tests. Found nada.

      My illness was all do to the DIO1 & DIO2 mutations. With those mutations, you cannot do synthroid.
      Please do not put the drs in charge of your health. You already feel crummy enough and are mudding out on life.
      Do your due diligence and STUDY and LEARN from what we shared with you. Sadly, no dr is going to give you your health back when it comes to hypothyroidism. Hundreds of thousands of us all over the world found out the hard way.
      Many of us order our own labwork and rx's overseas. We have worked it butts off ( ) to get our lives back and we are back to the land of living, new and improved!
      It's going to be all up to you.
      Good luck!

      - 9 years, 4 months ago.  

    • VD7457    1

      I hope this response finds you both well. I am very new at trying to read my data. I will respond to how I found the mutation under variants on my report, I went in and googled different variant homo and heterozygous to see what they all meant. To be completely honest I wasn't sure it was accurate until the cy282y showed up and I knew for sure I am an asymptomatic heyerozygous carrier of this gene. So then I went back and began reviewing all of my variants. I have been having this issue with my weight since I had my second child. I am a very active person that consumes very little food, so not losing weight is very frustrating to me, however I can even cope with being fluffy if I wasn't so tired and drained with aching shoulder and neck. My doctor always wants to do a new diet but I told him I have been on a perpetual diet for 9 years and I am more interested in why I feel like crap rather than chunking pills at it. I am looking through my lab and he did a comprehensive metabolic panel but ... More

      - 9 years, 4 months ago.  

    • VE6992    2

      Totally agree with the ZQ's comment below. And very few drs, let alone endos understand the thyroid let alone do the proper bloodwork or interept them correctly. Free t4, Free t3, AND REVERSE T3 are crucial!
      The DIO1 & DIO2 SNPs (among others) refer to your body's ability to convert the STORAGE thyroid hormone (T4) into the ACTIVE thyroid hormones (T3, T2, and T1) that do all the work in your body. Currently there are no tests for free t2 or free t1.
      Having mutated DIO2 and DIO1 SNPS means you do NOT convert the T4 storage hormone into the usable thyroid hormones. That leaves you with all sorts of hypothyroid symptoms. Commonly the weight issues you referred to. If you check hypothyroidism you'll find plenty more symptoms you will have now or in the future.
      Wish I could say changing your diet solves it. It helps but you need the Right thyroid hormones in the cells to solve it. Most of us find no grains or dairy HELPS immensely as well as high quality selenium and zinc to help the T4 conversion into T3 but that does not solve the thyroid hormones shortage issue. With hashimotos disease ... More

      - 9 years, 4 months ago.  

    • ZQ3506    1

      Hi, where did you find this snp on the report - I ask because I've looked and can't find it.
      If you have a thyroid disorder you will need to be well read. For a good place to start is the site and book stop the thyroid madness. You will need to have the full range of thyroid bloods taken. This includes free T3 and antibodies. You want your results to be optimal not just in range FT3 especially needs to be high in the range.

      - 9 years, 4 months ago.