genetics

May 9, 2001

They ran tests on one of ours and discovered a genetic factor. They say they

see it in only 2% of the NT population but more commonly among individuals w/

ASD and their parents. What they see is broken chromosomes...but no specific

ones more common than others...so they think its an enzyme issue. Chromosomes

can repair themselves with the right enzymes. When we actually talk to the

geneticist I'll ask if they've done or plan to do any research into the

connection between heavy metals and those/that enzyme! I'll also see if I can

get a specific enzyme name or names. Sounds to me they're still looking at the

symptoms rather than the cause...

S

October 24, 2003

His name is L. and here is their board for postings--

this would be the place to state your concern.

http://ithyroid.com/disc23_frm.htm

I'll read this as soon as I have some time--as always thanks for

posting info!

tina

> Tina,

>

> Not all hypothyroidism has the same etiology, but there is such a

thing

> as " familial congenital primary hypothyroidism. " It evidently

follows an

> autosomal recessive pattern of inheritance. Here's research from

1998:

>

> http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?

cmd=Retrieve & db=PubMed & list_uids=9588495 & dopt=Abstract

>

> If there is at least one genetic factor, there can be others that

> influence it. And, most diseases with a genetic component or

genetic

> basis DO tend to manifest in an age range characteristic for each

> disease. Jan is quite correct about the foolishness of the posted

> statement that initiation of a disease in mid-life rules out a

genetic

> predisposition.

>

> Chuck

February 11, 2005

Just a comment about genetics causing illness...I hear you about the

fact that genetics is a factor too but I feel the need to split the term

" genetics " into two categories. 1) the fact that you're blood relatives and you

may inherit the general constitution of your mother, grandmother, father etc.

Constitution being defined as how robust or strong your general health is and

any weak areas/tendencies. 2) We tend to replicate behavior and thought

patterns from our relatives just by being around them, i.e. my mother was a

worrier and I turned out just like her...and hence our physical body then

manifests a disease in the same area that corresponds to a particular thought

pattern. For example in the Louise Hay books such as " you can heal your life "

(which is a wonderful book by the way and I reccomend), it lists all the medical

conditions and what thought pattern tends to cause afflictions on those body

parts.

So my interjection is not to call anyone on an incorrect comment but rather to

add another perspective to the term genetics. I hear people say it all the time

and it's thrown out there as a blanket answer but if we really dissect it, I

think we can discover that genetics is not just a sentence we've been handed

that we can't do anything about, but perhaps a call to understand more about

what makes us tick and a pathway to overcome destructive thought patterns that

cause illness.

just a perspective...

Tracey

Date: Thu, 10 Feb 2005 - From:

Cheryl,

I know that most cancers are probably caused by diets and such but when you grow

up as I have as a health food vegetarian who never drank, smoked etc.. what

caused it then? My mom's side of the family all lived in different cities and

even countries so we were not exposed to the same environment. .......

C

Cheryl MacConnell wrote:

....I don't really believe in genetics causing cancer. Not in the common sense.

February 11, 2005

I think that all of us with cancer should volunteer blood samples for DNA

testing

for some cancers, the risk of getting it are higher further down generations if

a previous generation has had cancer - others they do not think so - but by

volunteering DNA - we can only help research - and maybe they might find a cure

which will save our children

Also on diet and health

so some people eat junk foods, smoke, drink in excess and live to a ripe old age

- somehow they do not go over that white line ....

but some of us with cancer have gone over that thin white line between health

and progression towards death. For many the disease can be beaten with drugs -

but for some, like me - they say drugs will not work - so I had to do something

that maybe might work

I have beaten hugely adverse odds to be here and alive today. I put it down to

-a natural and healthy diet with lots of fresh fruits, nuts and vegetables

-de-stressing and meditation

-really trying to be positive and HOPEful - and listening to others who have

beaten poor probabilities

-maybe religion and faith healing -maybe trying to be a better person and making

my life worthy of saving (but then I see little children afflicted!)

So I say do not dismiss the few tools we have in our toolkit to fight the beast

- use them

Love and Healing

Ian

March 8, 2010

Hi Everyone! I agree with that the world of genetics if so fascinating! I

met with Logan's genetic counselor last week and we went over his results. I

don't have a copy of the genetic report yet but his counselor will be mailing

one to me. She said that the 16th chromosome consists of at least 26 genes.

Several of Logan's genes on the 16th chromosome were affected. He had some that

were deletions and others that were duplications. The report from the lab stated

that he had abnormalities on 7 different chromosomes. The abnormalities on the

16th chromosome are the only ones that are clinically significant at this time.

The other abnormalities either haven't been studied or they have been studied

and were found not to cause any problems in people. Genetics is so complex! We

are focusing on the 16th chromosome abnormality which is the Chromosome 16p11.2

Deletion Syndrome. We were told that many people can have the Chromosome 16p11.2

Deletion Syndrome

and not even know it! Some people just don't have any symptoms. It isn't fully

understood why some people have issues and others don't.

Logan's case is more unique because of the affected genes within the chromosome.

Some of the genes have been studied and others have not. When I receive the

genetic report I will post more specific results. The genes that have been

studied are linked to severe speech delay and autism. The lab we used was

Signature Genomics. The counselor said that they are a large genetics lab so we

were surprised to find out that Logan is only the 4th known person to have this

particular karotype makeup. Many people can have 16p11.2 Deletion Syndrome but

Logan's affected genes make his case different. Maybe as technology and research

advances, Logan's genetic results will have a name all its own. His results were

compared to others from the lab that had the 16p11.2 deletion. The results found

that more than half of the people tested had abnormal MRI's. Some people had 1

missing kidney. Several had Autism or AD/HD. I think the counselor stated that

severe

speech/language delay was found in EVERY case. Some had hypotonia. People with

the 16p11.2 deletion syndrome are also at an increased risk for obesity later in

life. His counselor said that the treatment recommendation for the syndrome is

therapy for the symptoms. He is already receiving speech, physical and

occupational therapy though. He has been receiving help for many years.

The genetic testing results haven't changed anything in regards to his treatment

except that we will monitor his diet more closely to make sure that he

doesn't become overweight. The results just helped us to understand why he has

so many problems in so many different areas. He has Apraxia, Hypotonia and

Sensory Integration Disorder. He has symptoms of AD/HD and Autism. We deal with

aggression and potty training issues on a daily basis. He fits under all these

labels but there has never been one single label to explain all of his symptoms.

We have never known a cause for his delays until now. The next step for us is

more genetic testing. My husband and I need to know if either of us are

carriers. I highly recommend genetic testing. I am the Mom of a special needs

child. I am constantly looking for answers so that I can help my son. His

academic delays are so severe. I keep searching for ways to help him because

things are not getting better. He keeps

falling behind more and more. The genetic test results were a piece of the

puzzle that I had been looking for.

I joined the CDO - Chromsome Disorder Outreach. They have put me in contact with

other parents whose children have the same syndrome. The genetic testing has

opened more doors to us. We can talk to other parents who are going through the

same things. We can learn more about therapy options and teaching methods that

are working for the other children. We can stay up to date on the lastest

research that can help Logan and other children like him.We can participate in

clinical studies to further the research in this area of genetics.

....thanks so much for the information regarding the Genetic Research

Study. I definitely want Logan to be a part of it. Hopefully Mr. Hyung-Goo Kim

can shed some more light on Logan's test results.

Have a great day everyone! -Jennie

March 8, 2010

Jeannie, I'm so glad this has provided so much information for you. But have

you at any point considered that there may be metabolic processing disorders

that are causing a lot of the problems associated with these

deletions/inversions etc? . In other words--just because a genetic condition is

associated with XYZ --or correlates with XYZ--like speech disorders, obesity etc

etc---this really does NOT mean it has to be this way---there could be other

factors that mainstream medicine is not investigating--such as environmental

factors and special diets/missing nutrients supplemented appropriately might

help prevent those problems. You see the same mechanisms are in place as for

everyone else ---- but the genetic mutations can make them more vulnerable to

environmental factors to the point where those become the real problem for them.

This is the case with many metabolic disorders--but mainstream medicine only

chooses to look at the classic text book

examples and ignores any in betweens--where the proteins that cannot be

digested do not cause organ damage and death in a year or less the way they do

in galactosemic individuals--who BTW--often have verbal apraxia among other

problems and it is now known that the sooner their galactose intolerance is

identified--the healthier they will be--the more they eat the milk--even their

own mother's milk--the more brain and organ damage suffered.

And there are other metabolic disorders that cause problems and require dietary

interventions---which once implemented enable the patients to live more or less

normal lives--just avoiding the things their bodies cannot tolerate.

Kids with neurological disorders will very often have autoimmune and metabolic

problems as well--regardless of their genetic issues--those are present maybe

for many for most--though some genes may not have been identified yet as causing

problems--it takes a long time and the problems are sometimes too subtle or

manifest differently in different individuals and it takes a while to link them

all up. often have missing enzymes which in turn lead to food intolerances and

such, they tend to have problems detoxifying as detoxification pathways are

blocked etc etc--methylation is delayed and all of these further affect health

and neurological and autoimmune processing. This is the problem i have with

genetic findings--they do not delve deeply enough into the exact mechanisms by

which the correlations might be occurring--they may not have to be this way. if

you see a holistic nutritionist--not the " eat your peas and carrots " type--but

one trained to

understand metabolic processing and what nutrition actually does in our

bodies--you might discover that there is a lot more you can do for your son than

just to avoid obesity with careful diet--there may be special diets that can

help avoid a lot more of the problems and even regain some lost functions.

The field of epigentics shows that genes --while present in many of us in

similar combinations do not lead to the same disorders in all----they get

turned on and off throughout our life time--due to environmental triggers.

And I think here there is a lot to work with, a lot that we ca do to prevent

further damage and even help the body/brain heal by providing what is missing in

terms of vital brain nutrients and eliminating what may be affecting us

negatively due to missing enzymes, autoimmune responses and simply the body's

inability to break down certain proteins--which unbroken down--are poison for

that person and can lead to brain damage, loss of speech, mental retardation etc

etc...These mechanisms are well understood in medicine for the few classical

metabolic disorders studied--I am just amazed that more effort isn't put in to

understand the environmental triggers for a lot of the chronic degenerative

disorders we are dealing with in both the young and the old. There is enough

research to support this path and enough patients being treated by alternative

health practitioners with diet/supplements to know that these approaches produce

good results--it is just a

matter of identifying the specific needs for each condition--and this is where

the research is desperately needed--but even without the research---there is

enough neuroscience and microbiology research to point us in this direction. It

may take clinical practice decades to catch up --and financial incentives for

diet/supplements are just not there--it is too much of a turf war with the drug

companies--but if you understand a little about how our bodies work--and what

can happen --how much harm can come from just one little enzyme being out of

whack---and also the world works--what makes research happen and what makes it

take decades or never happen---you will perhaps find some alternatives to help

your child be the best he can be in spite of the genetic issues identified.

Again, correlations do not mean causation---the mechanisms almost always have

environmental triggers. i always give the example of DS children who have the

same issues with MR/speech.

autism, obesity, and end up developing Alzheimer's Parkinson as early as their

30's sometimes because they cannot tolerate certain things in the environment

and are more sensitive to toxins---and foods that they cannot tolerate that

become toxic for them and so on. To me this is a good example because the DS

individuals seem to have much more of their share of chronic degenerative

disorders--- and just like special diets and supplements can help apraxic kids

and autistic kids --they can most certainly help DS kids and adults---all these

neurological problems are intrinsically connected to metabolic

processing--researchers know that well--as I said there is a large body of

research pointing to this---but clinical practice takes it's cues from the drug

companies--so if there is no drug--there is no cure--there is no way to prevent

or ameliorate chronic degenerative disorders as far as they are concerned and

this is simply not true. We see it all the time

on this list with the Nutriivedaand the fish oil before that----All these are

examples of providing the body brain with what is missing--and what an

improvement for some!!-For others less so--but that may be because other things

are needed--my daughter needed carnatine and E for the fish oil to work and get

absorbed at cellular level--so you see there is a lot of hope---we justhave to

keep an open mind and learn as much as wee ca to help our kids.

All the best,

Elena

________________________________

From: Jennie <watsonjjlt@...>

Sent: Mon, March 8, 2010 12:49:51 PM

Subject: [ ] RE: Genetics