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Re: Genetic Defect

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For my son it was a blood test.

He gets B12/Folinic Acid injections. Ideally he'd be taking betaine

(TMG), but he can't tolerate it.

Jane

On Mar 31, 2004, at 4:03 PM, JOSKAT95@... wrote:

> In a message dated 3/31/04 2:50:57 PM, jbjny@... writes:

>

> > I don't know the name, but the mutation is concerned specifically

> with

> > the body's ability to carry out DNA methyllation.  If you look up

> 'DNA

> > methyllation' on Google, you'll find a much better explanation than

> any

> > I could give.

>

> *******************************

>

> How is this diagnosed? What tests are done? How is it treated?

>

> Kathy -NNY

>

> ***********************************************

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Who actually ran the test? Also, do you know the formal name of the test so

that we could also have it run.

thanks

- New Jersey

genetic defect

> The test that was done on my two boys two weeks ago was called " genomics " .

> It was a cheek swab. I was shown the results from another child (without

> the child's name) to demonstrate what is being tested for and how the

> results might look in an " abnormal " result. One thing that is " missing "

> genetically is MTHFR. There are several other things being tested for,

but

> I cannot remember all of them. When I get my results in, I'll be happy to

> share all of the factors tested for. Before we went to that visit and had

> the test, I looked MTHFR up on a search, and I pulled up all kinds of info

> on this, but it mostly pertained to patients with heart disease. Having a

> lack of MTHFR can also be the cause of some early heart disease. It is

all

> very interesting.

> Trina

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----Original Message Follows----

From: Jane <jbjny@...>

The gene variant that my son has (I'm nearly positive that it's MTHFR--

it led his doctor to prescribe the B12/folinic acid/betaine protocol,

and inhibits his DNA methyllation) does not necessarily lead to autism.

He has NLD (nonverbal learning disability) and lymphoid nodular

hyperplasia. We just found out yesterday that his neurotypical sister

has the same mutation. She has allergies and chemical sensitivities.

Some people might feel that my son is on the spectrum, but no one would

argue that about my daughter. Nor does she have learning disabilities.

Jane

---------------------------------------------

Hi Jane,

It probably is the MTHRF. I wouldn't be surprised if we also have that

variant since the aura migraines are something that my mom and I both have.

My younger son used to be severely chemically sensitive. (ASD/OCD) It

turned out that his immune system was responding to all kinds of things.

Once we changed his diet and added the antivirals, antifungals, etc. it

became obvious they were the major stimulus that kept him so sensitive and

dysfunctional for most of his life.

My older son didn't have problems until Jr High when he developed CFS/CFIDS.

He had the same issues develop (diet,viral,yeast) after his immune system

was hit by something like EBV. He followed a similar treatment for about

two years and felt well enough to stop treatment.

You probably know this...but lymphoid nodular hyperplasia is found in

non-IgE food allergies.

Cheryl

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How did you find out that you had these gene defects?

What type of doctor did you see? Barb

--------------

> ----Original Message Follows----

> From: Jane <jbjny@...>

> The gene variant that my son has (I'm nearly

> positive that it's MTHFR--

> it led his doctor to prescribe the B12/folinic

> acid/betaine protocol,

> and inhibits his DNA methyllation) does not

> necessarily lead to autism.

> He has NLD (nonverbal learning disability) and

> lymphoid nodular

> hyperplasia. We just found out yesterday that his

> neurotypical sister

> has the same mutation. She has allergies and

> chemical sensitivities.

> Some people might feel that my son is on the

> spectrum, but no one would

> argue that about my daughter. Nor does she have

> learning disabilities.

> Jane

---------------------------------------------

--- Cheryl B <clbro66@...> wrote:

> Hi Jane,

>

> It probably is the MTHRF. I wouldn't be surprised

> if we also have that

> variant since the aura migraines are something that

> my mom and I both have.

> My younger son used to be severely chemically

> sensitive. (ASD/OCD) It

> turned out that his immune system was responding to

> all kinds of things.

> Once we changed his diet and added the antivirals,

> antifungals, etc. it

> became obvious they were the major stimulus that

> kept him so sensitive and

> dysfunctional for most of his life.

> My older son didn't have problems until Jr High when

> he developed CFS/CFIDS.

> He had the same issues develop (diet,viral,yeast)

> after his immune system

> was hit by something like EBV. He followed a

> similar treatment for about

> two years and felt well enough to stop treatment.

> You probably know this...but lymphoid nodular

> hyperplasia is found in

> non-IgE food allergies.

> Cheryl

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