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  1. #11
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    Quote Originally Posted by covered in blue View Post
    Wow this is really interesting. All my boys have sacral defects. One has a dimple, one has a double crease, the other has a double cleft and I was taking the folic acid each time. Also lip and tongue ties in all. My third sons was very severe. Plus I'm not sure what is up with DS2 - he's not been diagnosed with anything but he exhibits some minor ASD behaviours. Others seem normal. Thank you. I will do some more reading
    only 50% of sacral defects are caused by folic/folate stuff. def. check into it but it can also be genetic or caused by things that we haven't figured out yet.
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  2. #12
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    ps - another thing to look out for is green tea - it can block folic/folate absorption and it can cause issues even at a pretty low intake. With my 3rd son I was drinking it just one per day, no one mentioned a word about it being dangerous in any way. He has a very deep sacral dimple and probably no tailbone (spina bifida occulta) and is constipated all the time because of that. My other kids were all normal even the ones I wasn't taking folic prior to conception!!
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  3. #13
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    Covered in blue and Dana-Alicia, I was amazed to find out how common the MTHFR mutations are and how little the general MD community knows about it. I am lucky in that we have a naturopath as our primary care doctor and she was the one who urged us to look into it before we conceived DS2. She looked at my health history and DS1's. He has a tongue tie that really made BFing difficult early on. It took us months to get BFing going well. He also has what we think is a small fistula right at base of his nose between his nostrils (looks like a tiny hole). And he has a thyroglossal duct cyst in his neck and a slightly tethered penis. And then the autism.

    I think it is a good idea for everyone to get tested and spouses too. We never would've thought DH had a mutation (he has no obvious health stuff going on right now) but he does and his mutation can impact a pregnancy as well if the baby ends up inheriting the mutation. This is a great article from MTHFR.net about how a dad's MTHFR status is important too: Heterozygous A1298C OR Heterozygous C677T MTHFR Mutation and Recurrent Pregnancy Loss? Consider This - MTHFR.Net
    Adoring our gorgeous (2007) and (2013)

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    *Might* be TTC a 3rd baby in mid-2015. If so, planning to sway but would welcome another sweet

  4. #14
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    What is a scaral dimple?
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    Hoping for a in 2015 to complete our family

  5. #15
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    Looks like a little hole on the buttocks. If you Google image it you will see heaps of examples
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    Due 24th March 2016

  6. #16
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    What's a tethered penis? My son with autism had mild hypospadias (an extra little hole right under the normal hole which needed to be closed), he had surgery when he was 1 and is fine now, but it's been a bumpy road for him. I will get tested as soon as we organized our move, it's been hectic :s I saw they treat it during pregnancy with bloodthinners? I'm already on those fortunately. I wasn't when I lost my little girl though I wonder if they can pick up on this gene defect with PGD? If I or DH have this I wonder if I'll have a healthy embryo to put back.
    Mummy to a girl, born sleeping & two gorgeous & loud little boys

  7. #17
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    You & your dh could get tested? It's just a standard blood test, I believe.
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  8. #18
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    Dana-Alicia, a penis tether is sort of like a tongue tie but on a penis, so there is just and extra bit of skin under his penis that slightly restricts movement. It's not bad and is not affecting it is anyway. But it is considered a midline defect.

    With the MTHFR mutation, yes some people need blood thinners but not all. I did not need blood thinners. I think it does depend on how it affects your body. I am not sure if they can test an embryo. I do not know anything about IVF. But if you are on blood thinners and get the right folic acid it should help even if the embryo has the mutation.
    Adoring our gorgeous (2007) and (2013)

    Missing (2006) and (2012)

    *Might* be TTC a 3rd baby in mid-2015. If so, planning to sway but would welcome another sweet

  9. #19
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    Ok thanks, I think Ds1 also had a tether but like your son he outgrew it. I went to see my rheumatologist this morning and she said she never heard of it. She responded like I expected her too, like I was one of those patients who know better so quickly dismiss it I took 5 mg of folic acid with my boys because my DD* had anencephaly. But that's the common folic acid, so which one would I need next time? Would I need prescription for it? If an embryo has the gene and I take my bloodthinners and folic acid, is autism and other probs less likely to occur?
    Mummy to a girl, born sleeping & two gorgeous & loud little boys

  10. #20
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    It can't hurt to take the methyl form even if you don't need it so if you feel you might have the mutation but your doctor won't test you, it would be fine to take the 5-MTHF. Really high doses of it require a prescription but if you just want it for conceiving you can buy it. Thorne makes a good one. Thorne Research - 5-MTHF 1 mg - B129 You also need to take the methyl form of B12, methylcobalamin. If you have the mutation band the embryo does as well, these things can help you and them process folic acid most effectively and hopefully avoid some issues.
    Adoring our gorgeous (2007) and (2013)

    Missing (2006) and (2012)

    *Might* be TTC a 3rd baby in mid-2015. If so, planning to sway but would welcome another sweet

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