what causes midline defects? - Page 3

[Lissybug]

Ohh- interesting thread. I'll have to come back and read more once I have more time.

Personally I have two boys both with mild tongue ties. My second son also had a sacral dimple that's gone now. Both of them are dairy allergic.

My homocystien level when checked a couple months ago were a bit high.

I also thought it was a bit interesting (though possibly completely a fluke) that with both pregnancies I wound up at one point right at the beginning having a strong craving for not quite cooked egg yolks and at another point craving liverwurst.

[mombh]

subbing

o.k. so, my ds who has down syndrome is my 8th child and I just thought it was due to my age ...45 when he was born.
I tried to eat as much nutrient dense as I could stomach...and supplemented with clo and sublingual B12 + folate + biotin etc;
He was born healthy thank G-d, no heart problems or other health problems usually associated down syndrome, besides the usuall stuff like narrow airways , low tone etc;
He does have a high palate and had difficulty nursing in the begining.

This is all very interesting. I know I was for sure born with deficiencies, I wasn't breastfed, not even fed formula, my father told us once, that they used to get fresh milk, boil it, cool it and add water so we wouldn't get tummy aches we were probably on cereals by 3 months....
I grew up in another country, but I'm pretty sure it was similar experience for most at that time.
add to that a not so good teenage diet.... and here we are...
I have to add that some of my kids are allergy/problem free.
so much to learn..

what is mthfr???( it doesn't sound great LOL)
and what are homocysteine levels?
and how and why would I have them tested? what would it mean?

[mombh]

o.k so I just googled mthfr aaand there is a link between that and having a baby with down syndrome......I feel like I have been in a bubble....never heard of that from any of the mainstream stuff...

[WuWei]

Originally Posted by mombh

o.k so I just googled mthfr aaand there is a link between that and having a baby with down syndrome......I feel like I have been in a bubble....never heard of that from any of the mainstream stuff...

MTHFR is a fairly new gene they've identified since 1999, maybe. And another version of it only since 2003, iirc. The reproductive endocrinologists and some OBs seem to be aware of it due to a "seeming" association with repeated miscarriages. (here is a bunch more info and the links on the next page: http://www.mothering.com/discussions...n#post14539524 )

Pat

[tanyalynn]

Originally Posted by mombh

o.k so I just googled mthfr aaand there is a link between that and having a baby with down syndrome......I feel like I have been in a bubble....never heard of that from any of the mainstream stuff...

I wouldn't expect any doctor I deal with to understand MTHFR, unless they were involved in ASD biomedical treatments.

But what you wrote above, doesn't that imply that nutrition is involved in Down Syndrome? That one seems confusing, because it's a concrete genetic difference, and I thought traditionally it was believed to be simply a pre-existing anomaly in an egg, so it was created years ago. I don't understand how nutrition factors in for conditions like that--that implies that something more subtle is going on.

[mombh]

Iam also confused here....I also thought this was due to an egg anomaly.

I do believe though that, just as prenatal nutrition has an effect on regular babies it also has for babies born with chromosomal disorders too.

I need to research and learn more about mthfr. one thing doesn't make sense for me since I had a very easy time getting pregnant, never had any problems......unless somehow enough folate either from food or supplement kept everything on trac....

going back to read more

[Theloose]

When I was just learning this stuff, there was another mama of a kid with down syndrome posting, I think here?

And yeah, if you get enough of the right form of folate (food forms rather than folic acid supplements) then you can 'bypass' the MTHFR variations.

One possible nutrition connection is, if this is a genetic thing, then folate status would matter your whole life, including when eggs were developing. Isn't there also an age connection though? The older you are, the more likely to have a baby with downs? Or am I remembering that wrong?

[WuWei]

I have only a vague understanding of the relation between MTHFR and Downs. I imagine there are multiple variables.

I've pieced together that the availability of "adequate" folate affects the ability to carry a baby to term. When there is 'just enough', some eggs which would not have survived with (seasonally or environmentally) inadequate folate do survive. I believe the supplementation of synthetic folic acid in our food supply may improve the 'odds' of fetus survival (despite gene mutations), but with increasing midline defects presenting, as opposed to a lost fetus. (of course, we are noting 'lost fetus' at a much earlier stage of embryonic development; thus there are more "repeated miscarriages" recorded.)

Additionally, food folate alters biochemistry differently than synthetic folic acid. But, I don't believe there is a perceived correlation of inadequate folate causing mutated genes. Although, that sounds like it could be a generational effect perhaps due to impaired detox pathways and toxin overload? (I'm totally guessing on that.)


Not sure that helps. But, we do know that children with Downs have increased benefits of food folate.

Here are some more links about Downs and folate. It appears that there is some concern that the elevated homocysteine may in fact damage the genes.

"Findings of significantly higher levels of plasma homocysteine and increased sensitivity of lymphocytes to methotrexate cytotocity in the women with Down syndrome babies supported their hypothesis that abnormal folate and methyl metabolism might contribute to the risk for trisomy 21."
http://www.healthline.com/blogs/preg...etabolism.html

Another theory, is more complex (and I don't completely follow, lol):
http://www.ds-health.com/abst/a0108.htm

Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome This study suggests that factors involving both genotype and nutrition may underlie susceptibility to nondisjunction and therefore trisomy 21.

This Jan 2000 Study Suggests Folate Deficiency-Down Syndrome Link. "Altered maternal folate status and homozygous mutation in the methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes can promote chromosomal instability and non-dysjunction resulting in fetal trisomy 21." http://linkinghub.elsevier.com/retri...01211505004203


But, please don't buy the Guilt Card. We can't know what we don't know. And as you mentioned, mainstream docs aren't even aware of the correlation. The issue is *increased* FOOD folate needs in women with MTHFR above "normal" RDA recommendations and NOT synthetic folic acid supplementation. But, "we" add folic acid to the food supply!

If you google "down's syndrome folate", you'll find thousands of articles and research studies. Share the info on to other Down's resource groups. We are all learning all the time.


Pat

[mombh]

thanks for all the info
I actually just bookmarked 2 of those links....I need to read and process this all.

Iam really curious about the mthfr and folate and down syndtome connection and I need to learn so much more about the detox pathways and midline stuff.

I have got bits here and there that I thought were relavent to us, some of my kids have allergies, some not, 5 of us are gluten intolerent(that's a lot for one family, I know).
If I have mthfr why did I have 7 healthy kids and then the last one with down syndrome? It just seems to me more like due to my age, being 45 when he was born. who knows....don't worry, I am not going down guilt road here, I just know that the more I figure out the more I can keep him healthy and have him reach his max potential and live a full functioning life. It can also help me to connect the dots between all these seemingly little things here and there.

Also interesting is how certain nutrients can switchon/off certain genes....
it's all connected, I know.

you mamas are awesome

[lil_miss_understood]

Originally Posted by mombh

If I have mthfr why did I have 7 healthy kids and then the last one with down syndrome? It just seems to me more like due to my age, being 45 when he was born. who knows....don't worry, I am not going down guilt road here, I just know that the more I figure out the more I can keep him healthy and have him reach his max potential and live a full functioning life. It can also help me to connect the dots between all these seemingly little things here and there.

Also interesting is how certain nutrients can switchon/off certain genes....
it's all connected, I know.

you mamas are awesome

I've often wondered if the increased risk due to age thing is really due to nutritional deficiencies exacerbated or more pronounced by age..

[WuWei]

Originally Posted by JacquelineR

I've often wondered if the increased risk due to age thing is really due to nutritional deficiencies exacerbated or more pronounced by age..

And more toxin load accumulated and harder to process/detox due to those nutrient deficiencies. We've often said that the 1st baby gets the most toxins from mama. We "chelate" into the fetus and breastmilk. And the last baby receives the least nutrients.

Food has power ~the power to harm and the power to heal.


Pat

[WuWei]

mombh, found this about MTHFR and Down's.


Pat

[mombh]

thanks wuwei!!! I am trying to read up as much as I can, process it all and make a plan. I need to start supplementing my lo and all this info is so appreciated.
I would love to test myself for mthrfr but since I don't have ins, right now I will wait and supplement folate anyway.
Is there such a thing as taking to much folate??

[Theloose]

Originally Posted by mombh

thanks wuwei!!! I am trying to read up as much as I can, process it all and make a plan. I need to start supplementing my lo and all this info is so appreciated.
I would love to test myself for mthrfr but since I don't have ins, right now I will wait and supplement folate anyway.
Is there such a thing as taking to much folate??

You can definitely get too much folic acid, but my jury's still out on too much folate/folinic acid. It's possible to overmethylate DNA, but I don't know if that just applies when pg?

[quelindo]

Do you think if the father has a MTHFR mutation that could contribute to Down syndrome, or is it just the mother?

My DH's daughter from his first marriage (the third of his first three kids, born when he was 28 and his then-wife was 29) has DS. I know that *I* have a MTHFR mutation (and our son was born with a sacral dimple) but I couldn't get DH's doctor to test him for it. I know his ex-wife has a lot of low-level health issues & I wouldn't be surprised if she had a mutation, too, though.

[mombh]

Is a sacral dimple something your dr. or midwife would look for or point out to you? is it something you could miss if you are not looking for it??

howabout folate through breastmilk? If the mama supplements does the baby get enough? or due to the defective pathways it is best to supplement both?

wouldn't a sublingual make more sense if their are absorbtion/conversion issues??

[mombh]

new mama, I was also wondering about the father and mthfr. Since the father could have gotten it from his mama.......wondering how this all comes into play.

[WuWei]

Originally Posted by New Mama

Do you think if the father has a MTHFR mutation that could contribute to Down syndrome, or is it just the mother?

Only reference I've seen is that high homocysteine in the father could alter the health of the sperm development. So, theoretically *some* mutation could evolve, not sure if Down syndrome is correlated with paternal hyperhomocysteine/MTHFR yet.

This article is a bit too technical, but it sounds like the father's genes could be a variable in Down syndrome? http://findarticles.com/p/articles/m.../ai_n32230587/

This study explanation is comprehensive, but it is too early in the morning to decipher it all. http://www.ijhg.com/article.asp?issn...4;aulast=Cyril

Paternal age is often sited as relevant to Down syndrome, but only in mothers 35 years old and older.


Pat

[WuWei]

Originally Posted by mombh

Is a sacral dimple something your dr. or midwife would look for or point out to you? is it something you could miss if you are not looking for it??

how about folate through breastmilk? If the mama supplements does the baby get enough? or due to the defective pathways it is best to supplement both?

wouldn't a sublingual make more sense if their are absorbtion/conversion issues??

The sacral dimple is easy to miss. Ds's is more pronounced and was probed as a newborn. It is a 1/4 inch indentation. I have one also, didn't know it though.

Found this great study!! "The aim of the present study was to investigate the effect of 3 treatments (placebo, folic acid, and [6S]-5-methylTHF) on milk folate and folate-binding protein (FBP) concentrations and to determine whether unmetabolized folic acid is present in milk."

Conclusion: Maternal intake of synthetic folic acid leads to the appearance of unmetabolized folic acid in milk and, seemingly, a down-regulation of milk FBP synthesis. The impact of these changes on the bioavailability of folate in infants requires further exploration.
http://www.ajcn.org/cgi/content/full/89/1/216


I don't know of a sublingual folate.


Pat

[Theloose]

Wow, cool article Pat!

Originally Posted by mombh

howabout folate through breastmilk? If the mama supplements does the baby get enough? or due to the defective pathways it is best to supplement both?

wouldn't a sublingual make more sense if their are absorbtion/conversion issues??

Dd definitely benefited by my own increased folate. The big absorption issues seem to be b12 and zinc, but there's not a lot out there since folic acid doesn't require b12, and I forget if folic acid needs zinc or not. The conversion between folate forms happens in cells rather than in the gut, so sublingual wouldn't make much of a difference for that.

Originally Posted by mombh

new mama, I was also wondering about the father and mthfr. Since the father could have gotten it from his mama.......wondering how this all comes into play.

I have no idea about the connection to Downs, but if the father passes his folate sensitivity (MTHFR) to the fetus, then that would be one pathway. And it would explain some part of the difference between siblings.