Homozygous A1298C (Husband is heterozygous A222V)

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This topic has 2 voices, contains 3 replies, and was last updated by  Dr Ben 79 days ago.

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February 10, 2012 at 12:18 am #776

LindaP

I am a seemingly healthy 35 year old woman battling infertility the last 7 years. My blood type is A+ and my husband is B+. I found out a year ago that I am homozygous A1298C and was put on two Folgards per day and two baby aspirin per day. That is what my fertility specialist says is “standard) with double mutations. (Some background: I got pregnant on my own with my son with no fertility treatments after suffering a miscarriage at 6 weeks-slow fetal development-this pregnancy was the result from invitro fertilization). I had no problems with my pregnancy with my son and carried him to 41 weeks.-Did not know I had MTHFR mutation at the time. However, I was monitoring my blood sugar levels throughout the pregnancy after I read an article that women with PCOS appearing ovaries tend to have sluggish insulin or insulin issues. I even asked my obgyn to test my sugar levels early at 15 weeks and they saw I had developed gestational diabetes. So I just monitored it and had no spikes and issues as I controlled my diet strictly with sugar intake at the bare minimum.) Well, after my son was born we tried to get pregnant when he was a year and a half on our own and I wasn’t cycling normal. My cycles went from 33 days pre pregnancy to 45+ days post pregnancy. I also was unable to produce milk and wasn’t able to breastfeed him so my period returned four months after giving birth. Then I would cycle every 45+ days. So I decided to see a nutritionist who found me to be healthy, just low in B2 riboflavin vitamin at 53%-which is considered border-and B12 cobalamin at 14% also considered on the cusp. My antioxidant function also was found deficient at 59% considering that 65% was normal. So I was told to take B2 20 mg and 300 mcg of B12 per day. They also found a I had a fructose sensitivity (which I figured since I developed the gestational diabete.) I was also told to take CoQ10-30 mg per day. After a few months of detoxing and still taking my citrical prenatal with DHA my periods resumed to 33 days cycles. However I was still not getting pregnant. So I decided to try taking medical nutrional shakes prescribed by my nutrionist and added a scoop of inflammation control to my one shake per day. It brought my cycle to 31 days and I ovulated on cycle day 16 instead of my usual 17-25 cycle day. (I got pregnant on my own with only taking citrical prenatal vitamins with DHA but I figured I better use the nutrional shake everyday to increase my chances. I also got pregnant with my son on cycle day 17.) Anyway, I ended up getting pregnant that month I started using the inflammation control part of my shake. I got pregnant with a baby boy and lost him at 7 weeks. I had him tested and his DNA came out normal…no abnormalities. That is when my doctor tested my for MTHFR since it was my second (non consecutive pregnancy loss.) They found through genetic testing I was cleared of any diseases, thyroid function was good, but the homozygous A1298C mutation prompted my doctor to encourage me to try lovenox injections next time I get pregnant. I have NOT taken injections with my son, so I decided against her theory. I then got pregnant 9 months later with a blighted ovum and then 6 months later I had a chemical pregnancy. Both months that I got pregnant I adhered to a gluten free diet. I then got tested for food allergies and found them to be abundant. I am severely allergic to gluten, shellfish, all dairy/cheeses, and countless beans, soy, pineapple, cherries, pistachios. Nearly all the things I am allergic to have HIGH amounts of B2 and B12…the things that I was deficient in a year and a half ago. I have NEVER had a high homocystein level in tests. Now, I found out my husband has the heterozygous A222V. Can you tell me what you would recommend for him to take and what you would recommend for me to take? I have stopped all the folgard (since November before my chemical pregnancy that I lost in January (4th miscarriage). I also stopped the baby aspirin and have been taking my citricalnatal and DHA supplement, L-arganine, 1 fish oil, and COQ10. What else should I take or can you give me an idea how much I should be taking. Also I want to ask my fertility doctor to do further testing on my with the nitric oxide you told another inquirer about in Novemeber posting. But what is the name of that test? Do you recommend to me any specific test I should have my husband take? Thank you so much for reading this and your input ahead of time. I don’t think I can endure another miscarriage and I am trying to help myself without being treated with “blanket” regimines by my fertility doctor such as the blood thinners.

February 14, 2012 at 7:30 am #829

Dr Ben

Linda –

Thorough – I appreciate it! :)

My time is so limited though that in order to help you with such a history and questions, a consult is required in order to hear your story more properly and allow me time to digest it and provide thoughts and recommendations.

Please call 800-547-9812 to schedule a consult. Jatone, Meg or Brandon will set you up. You may also obtain your consult online here.

Look forward to working with you and getting you where you want to be!

  • This reply was modified 95 days ago by  Dr Ben.
February 15, 2012 at 3:06 am #850

LindaP

Will do! I have an appointment with my fertility dr. tomorrow…tired of blanket treatments and being a guinea pig. Need your insight.

February 29, 2012 at 11:40 pm #1138

Dr Ben

Linda –

To let you and all know, the heterozygous A222V is synonymous with the heterozygous C677T MTHFR mutation.

Good talking with you and your husband today. I will send your follow up notes later today – had to reschedule my other consult so I have time now.

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