Re: Re: chromosonal testing?

[Guest guest]

Yes we did- results came back showing a 10q23.31 chromosome deletion. further

tests showed that my hubby has the same deletion... (with no delays). further

analysis showed that all KNOWN missing genes in this deletion have no

correllation to cognitive or physical delays.

This testing assisted us to focus more on " neuro causes " for our son's speech

issues. We did find out that there was a SLIGHT abnormality on his MRI of

Brain... it showed " Mild PVL " . My son follows up with a Neurologist once per

year due to this... (a waste of time- the appointments are simply quick check

ups)... this Neurologist continues to feel that our son's delays are related to

" An undiagnosed Genetic Issue " .... even though the Genetics docs from the SAME

Hospital system tell us that our son's delays are more " Neuro based " ... Go

figure!

[ ] Re: chromosonal testing?

Yes, this was done a couple of weeks after our daughter's birth. It was a FISH

test that came back abnormal. Although that is the reason behind our daughter's

delays, this sadly does not help craft an intervention plan!

>

> Anyone ever do chromosonal testing?

>

[Guest guest]

So of the people who have done the testing it doesnt really appear that the

truly gained and knowledge. As a matter of fact one person stated it showed

nothing but there child was still having problems?

I am a little concerned because the results of this test could be used in ways

that may possible harm a child. I have tried finding information online about

this testing to read and learn but I really cant find anything. Any suggestions?

From: tetellita <estelle_tracy@...>

Subject: [ ] Re: chromosonal testing?

Date: Wednesday, December 1, 2010, 11:31 AM

 

Yes, this was done a couple of weeks after our daughter's birth. It was a FISH

test that came back abnormal. Although that is the reason behind our daughter's

delays, this sadly does not help craft an intervention plan!

>

> Anyone ever do chromosonal testing?

>

[Guest guest]

--this is what bugs me about all this genetic hype. OK--so he has it. So

now what?--How does this inform treatment?--even when associated with

established speech or other delays--not all who have the chromosomal abnormality

have the deficits--or even if most do----there is NO DIRECT CAUSAL relationship

proven. it could well be that all these people have metabolic differences that

if left unaddressed--meaning appropriate diet/avoidance of certain foods and

toxins plus supplements--are not provided----the body deteriorates along with

neurological functioning, endocrine etc--because the metabolic differences do

not allow them to process nutrients to detoxify etc the same way. this in turn

leads to neurological, immune etc type disorders--and this is the common factor

not the neurological problems per se--the metabolic differences.

This is why i will never do genetic testing--not until they can do something

about what they find--like tell me people who have this chromosomal pattern tend

to not digest proteins etc--and need to have this and that tested to make sure

it is within normal limits or neurological function will result etc etc.

This is the next step that genetic testing never takes--it just tells you what

the genes correlate with--but NOT what is in fact causing the problems in the

patients brain/body.

So unless something deadly is suspected---just labeling chromosomal differences

is pointless --it provides no answers, quite the opposite--it often makes

parents stop seeking answers thinking this is it--the doom they can no longer

fight and I totally disagree with that. Our apraxic kids have metabolic

differences that are at the very least complicating factors in their

neurological disorders if not the direct cause.

My daughter is malabsorbing many nutrients, has fatty acid deficiency, among

other things, in spite of supplementation, ---food intolernaces, low iron, low

D, high copper, high pother metals, no digestive symptoms per se-but seems to

gather all microscopic parasites that come her way--we've ad 3 so far and just

retested to see what's next--clear sign of a compromised immune system along

with her known scalp psoriasis and eczemas...so unless genetic testing can

provide some guidance for all these abnormalities-i won't go there. looks like

you've discovered the same thing. i am sorry. others seem happier to learn of

some chromosomal aberration and then be told there's nothing they can do about

it. i feel like this is a waste of time and money unless they can tell me what

to do about it--other than what I am already doing and testing. So biomed is

well ahead of the game here-providing real answers, not just illusory

correlations.

All the best,

Elena

> From: <>

> Subject: Re: [ ] Re: chromosonal testing?

>

> Date: Wednesday, December 1, 2010, 2:44 PM

>

> Yes we did- results came back showing a 10q23.31 chromosome

> deletion. further tests showed that my hubby has the same

> deletion... (with no delays).  further analysis showed

> that all KNOWN missing genes in this deletion have no

> correllation to cognitive or physical delays.

>

> This testing assisted us to focus more on " neuro causes "

> for our son's speech issues.  We did find out that

> there was a SLIGHT abnormality on his MRI of Brain... it

> showed " Mild PVL " . My son follows up with a Neurologist once

> per year due to this... (a waste of time- the appointments

> are simply quick check ups)... this Neurologist continues to

> feel that our son's delays are related to " An undiagnosed

> Genetic Issue " .... even though the Genetics docs from the

> SAME Hospital system tell us that our son's delays are more

> " Neuro based " ...  Go figure!

>

>

>

>

>

>

>

> [ ] Re: chromosonal testing?

>

>

>

>

> Yes, this was done a couple of weeks after our daughter's

> birth. It was a FISH test that came back abnormal. Although

> that is the reason behind our daughter's delays, this sadly

> does not help craft an intervention plan!

>

>

> >

> > Anyone ever do chromosonal testing?

> >

>

>

>

>

>

>

>

>

[Guest guest]

Hi elena-

I understand where you are coming from.... yet, please consider the fact that

there have been advances in Genetic testing. As time goes on, more is learned.

there is currently a Research study being done at the Medical college of

Georgia... they are accepting children with any form of a known Genetic

abnormality... and they are hoping to discover links to developmental delays.

Yes- you are right-- many of us who have gone through the testing have not

received any clear answers as to how the Genetic issue affects our kids... (if

it does at all).... this does not mean that it will be this way forever.... as

time goes on, and more Research is conducted, there will be a clearer

understanding of the Human genome. My thoughts are.... why not go through the

testing? ..... it helped me to learn something I did not know about my

child..... and some day, this info may be useful!

our test results HAVE been useful in some ways. My son was discovered to have a

10q23.31 deletion.... 9In the scheme of things, this is a very small deletion).

my hubby and I were also tested.... and my hubby has the SAME deletion. We

learned about the " missing genes " in this deletion-- some have been studied,

others hacve not yet been. We DID learn that one of the missing genes

predisposes people who are missing it to a much higher risk of developing

aneurysms. Another one of the missing genes has an important role in cholesterol

metabolism.... WOW- now we know WHY my hubby has such a high cholesterol level,

despite frequent exercise and healthy eating habits! These results made it

possible for my hubby to simply call his PCP and request an Echocardiogram....

It was ordered.... no questions asked, no problems! My hubby will have this

done yearly! We will also make sure that our son receives Echocardiograms when

his doctors suggest he should start having them done!

In conclusion.... I feel that the testing WAS worth it... Preventive medicine at

it's best!

Take care--

[ ] Re: chromosonal testing?

>

>

>

>

> Yes, this was done a couple of weeks after our daughter's

> birth. It was a FISH test that came back abnormal. Although

> that is the reason behind our daughter's delays, this sadly

> does not help craft an intervention plan!

>

>

> >

> > Anyone ever do chromosonal testing?

> >

>

>

>

>

>

>

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>

[Guest guest]

Unforunaetly I am in the middle of a custody battle. My abuser made false

allegations against me and has been awarded temporary custody of our son.

He is not following through with recommendations from Dr.

He is not making sure his IEP is up to date and accurate.

He placed him in a classroom of all disabled children (against Dr.s

recommendations)

He never had him evaluated for O.T.

 

This is his new endeavor though. This testing.

If my sons disability is not caused by a genetic defect then I believe his

father will not believe him to have a disability.

I just think if these results can only tell you about your genes but really

doesnt help you understand your disability then why do it?

What if parents say well there genes are fine so they must be fine.

I dont know, just dont see how it is " helpful " in any way.

Debbie

From: luvmykids8233 <>

Subject: [ ] Re: chromosonal testing?

Date: Thursday, December 2, 2010, 1:17 PM

 

Hi- I'm not sure what you mean when you said that " the results of Genetic

testing could be used in ways to harm a child " ....

Genetic testing involves a simple blood test.... I have never heard of any

" Harm " coming from this! Results are confidential....

My feelings are that it is important to try to figure out as much as we can

about our kids.... Genetic testing can be just one more piece of the puzzle of

our kids!

We had it done- and I would suggest it to anyone!

> >

> > Anyone ever do chromosonal testing?

> >

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[Guest guest]

What's FISH? Is there a special type of Dr. that conducts genetic counseling

(vs. doctors who do it for couples trying to conceive?

---- <susanargue@...> wrote:

> My 2 year old daughter was recently diagnosed by FISH with 22q13 Deletion

Syndrome. Symptoms include neonatal hypotonia, absent to severely delayed

speech, and global developmental delays. Only 600 people worldwide have been

diagnosed since 1998.

>

>

> >

> > Anyone ever do chromosonal testing?

> >

>

>

[Guest guest]

,

Ok--so given our discussion so far on this topic----I do not know whether to say

I am sorry--or I am glad of what you've learned. The bottom line is what are the

doctors doing about it?-----how is this knowledge helping treatmen? Has it put

your mind at ease?--do you feel that this explains it all and you'll just ahve

to accept it?--how has it affected your child's treatment? Other than therpy

which we're all doing for similar things Speech OT etc.---what else have the

mainstream doctors----the geneticists--or metabolic experts whom i would guess

any patient with chronmosomal abnormality should be referred to--what have they

recommended to help address the low tone, speech etc?---chances are other than

saying that  this is found in such and such genetic diferences, they've not been

able to tell you much.

So they are going by observation/correlation. My point is why do they not test

these kids for metabolic differences and take it from there. I may be wrong and

many some of the more enlightened doctors do go that route--I do know there are

metabolic experts who are very well informed and skilled at addressing metabolic

issues. But they do not get referrals except for those patients exhibiting the

classictextbook markers for metabolic dsorders and for kids with neurological

damage--the metabolic markers are often too subtle to be picked up by mainstream

clinicians.  With the information you now have---I would strongly urge you to

seek answers and see if biomedicine can offer some solutions in terms of

optimizig functioning at all levels for your child. and this is what we should

all do regardless of known or unknown genetc status.  Seek answers to our

children's neurological differences and if we know where to seek--metabolic

differences will show up

most of the time. That will clear the path for successful intervention.

Nutriiveda is just one example of that. Other kids need so much more.  This is

the area that warrants the most investigation. and gentic testing needs to link

to it but so fat to my knowledge it hasn't.

All the best,

Elena

From: <susanargue@...>

Subject: [ ] Re: chromosonal testing?

Date: Thursday, December 2, 2010, 1:48 PM

My 2 year old daughter was recently diagnosed by FISH with 22q13 Deletion

Syndrome.  Symptoms include neonatal hypotonia, absent to severely delayed

speech, and global developmental delays. Only 600 people worldwide have been

diagnosed since 1998. 

>

> Anyone ever do chromosonal testing?

>

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

[Guest guest]

My son was also diagnosed (with Chromosome 22q11.2 duplication syndrome) by FISH

and microarray. Very sensitive test that can pick up the smallest duplications.

Much more sensitive than traditional testing. We went to a genetics doctor here

in Houston that sees children and tests them and also advises families.

From:

[mailto: ] On Behalf Of cwg1@...

Sent: Thursday, December 02, 2010 5:17 PM

Cc:

Subject: Re: [ ] Re: chromosonal testing?

What's FISH? Is there a special type of Dr. that conducts genetic counseling

(vs. doctors who do it for couples trying to conceive?

---- <susanargue@... <mailto:susanargue%40> > wrote:

> My 2 year old daughter was recently diagnosed by FISH with 22q13 Deletion

Syndrome. Symptoms include neonatal hypotonia, absent to severely delayed

speech, and global developmental delays. Only 600 people worldwide have been

diagnosed since 1998.

>

>

> >

> > Anyone ever do chromosonal testing?

> >

>

>

[Guest guest]

Hi debbie-

After reading your post, I can understand your negative feelings toward the

Genetic testing. I am so sorry that you are going through such a difficult

situation. It sounds like the man you were involved with is a " control

freak " type of guy.... and that is a darned shame. The fact that this man is

not following through with what doctors suggest, and not keeping up with the

IEP tells me that he " may be burying his head in the sand " .... Are you

saying that he seems to want the genetic tests to " prove " there is nothing

wrong?

All in all, this seems very sad. bottom line- some people have gone

through the testing-- and have found nothing..... (To me- this is important

also..... knowing that there " is nothing genetically " wrong is INFO.)..... and

ALL info is important..... If the causes are not related to " A " .... then

you can focus on " B, C, D " etc....

I personally, feel that this testing is important.... and I often, have a

hard time understanding why many people have such strong feelings against

it. I can understand that for some, there are financial concerns.... In

our case-- the testing was covered by our Insurance company... so that was

not an issue to us. If you read a post that I wrote yesterday, you will see

that there WERE some results from the testing that were very useful to us.

The small genetic deletion that my son has SO FAR has no correlation to

cognitive or physical delays.... BUT- some of the " missing genes " have not

been studied yet.... I have this info in hand-- and I will always be able to

look for updates in the future. Many of the genes in this deletion WERE

studied.... and we now know that my hubby (who has the same deletion) has a

HIGH RISK of developing an aneurysm. These results made it very easy for my

hubby to be able to have yearly Echocardiograms..... precentive medicine at

its best!

There is so much " Hype " about Genetics..... I feel frustrated about

this....and also have reasons for my feelings. When my son had the " abnormal

result " .... further testing was done on my hubby and I... my hubby has the

same deletion... (which means that it was passed down through my hubby's

side)... The Insurance company would NOT cover the cost of testing for our

daughter (who has no delays and is very advanced)..... it is important for me

to see if she has the same deletion... because there are medical

implications associated with it.... (also- IF she has this deletion.... this

would be

further proof that the deletion is NOT a cause of delays).... I found out

about a free Study for families who have kids w Genetic Deletions.... and

wanted to participate. this study would pay for blood draws of us, and my

husband's mother and brothers..... in essence- we would have detailed results

for free... and we would be helping to find out more about the human

Genome! One of my husband's brothers has adamantly refused to participate.....

he does not even want us to tell his adult children that such a deletion

exists in their " Family tree " . To me... this is what I refer to as a " bury

your head in the sand " mentality!!!! It is very frustrating. One of this

brother's children had to have his spleen removed prior to age 3.... this is

NOT TYPICAL!

I want to clarify some of the things you mentioned..... YES- some people

who find out that their child has a Genetic abnormality find no clear answers

as to how the missing genes do/or do not relate to a given disability....

BUT..... OTHERS DO find out important info! I believe in using EVERY

AVAILABLE form of testing, treatment, etc that may relate to my child..... and

I

will NEVER STOP! Genetic testing was only a small piece of what we have

done.... and I feel it was a very important test-- I'd do it again.... and I

would always suggest it to anyone!

In a message dated 12/3/2010 7:15:54 A.M. Eastern Standard Time,

debster197@... writes:

Unforunaetly I am in the middle of a custody battle. My abuser made false

allegations against me and has been awarded temporary custody of our son.

He is not following through with recommendations from Dr.

He is not making sure his IEP is up to date and accurate.

He placed him in a classroom of all disabled children (against Dr.s

recommendations)

He never had him evaluated for O.T.

This is his new endeavor though. This testing.

If my sons disability is not caused by a genetic defect then I believe his

father will not believe him to have a disability.

I just think if these results can only tell you about your genes but

really doesnt help you understand your disability then why do it?

What if parents say well there genes are fine so they must be fine.

I dont know, just dont see how it is " helpful " in any way.

Debbie

From: luvmykids8233 <__ (mailto:) >

Subject: [ ] Re: chromosonal testing?

_ _

(mailto: )

Date: Thursday, December 2, 2010, 1:17 PM

Hi- I'm not sure what you mean when you said that " the results of Genetic

testing could be used in ways to harm a child " ....

Genetic testing involves a simple blood test.... I have never heard of any

" Harm " coming from this! Results are confidential....

My feelings are that it is important to try to figure out as much as we

can about our kids.... Genetic testing can be just one more piece of the

puzzle of our kids!

We had it done- and I would suggest it to anyone!

> >

> > Anyone ever do chromosonal testing?

> >

>

>

>

>

>

>

>

>

>

>

>

>

[Guest guest]

Hi ,

 

Tests are tests--none are perfect and none can tell us exactly what is going on

with our non----neurotypical child. believe me--before discovering biomed i

would have done all tests that had any chance to shed light on our daughter's

severe apraxia hypotonia, mild SID, on and off toe walking etc etc... So yes, I

would have done anything that could have given me some hope.  Luckily we

stumbled across biomed interventions and they have proven to be amazing for

her---we tested--again--imperfect tests but between all of them there is no

doubt we are dealing with a metabolic disorder--quite common in apraxic kids--or

otherwise non-neurotypical kids--just look at the symptoms---they span across

several systems--when properly tested these kids have malabsorptions of various

kinds --often at both gut and cellular levels--vitamin D., E, Bs, iron, calcium,

Mg, other things are off the wall high--particularly if you try to

supplement--again---the deficiencies are

due to faulty enzymatic processes--not so much the lack of available

nutrient--or it can be that too if the gut is too permeable and that too happens

a lot if the immune system is off--and it often is ...what can I say----this is

real--and there are real things you can do about it. Many things--and the

improvements are spectacular. 

 

That's why I urge all parents of non-neurotypical children to look at metabolic

processing before they spend tons of money looking at other things--which may or

may not inform treatment.  What can we do about it-that's what matters the

most-not what label we can put on it.

 

Anyway--I am of the opinion that information is power--if it enables you to act.

if it makes you resign yourself to the idea that there is nothing you can

do--because it is genetic-as one other parent has told me when I suggested she

consider optimizing neurological functioning for her genetically different

daughter.  So i just know of too many cases where learning the genetic diagnoses

just made the parents--yes despair--but also resign to their fate--and that is

not acceptable--as parents we do not have the right to just give up on our

kids--and blaming it all on the genetics is giving up as far as I am concerned.

 

If on the other hand the genetic testing can tell you something you can act

on--I'm all for it--sure---we have to do everything to help our kids be the best

they can be--regardless of their genetic make up. Again--the field of Epigentics

is clear about the fact that many genes get turned on and off---they are

triggered but can also be turned off at times by environmental factors--so if

Genetic testing can help with that I'll do it any time.   So this is where the

metabolic testing and understanding--and treating comes in. we all are what we

eat, drink, and breathe--and those with genetic differences are the most likely

to have metabolic differences--those are what matters----not the genetic

differences per se--but the ways in which they make these individuals different.

And this is usually not just a matter of how it impacts their abilities to

perform things--but mor eoften than it is acknowledged by the medical community

it impacts their ability to

process nutrients, air and water--their digestive enzymes and every enzyme in

their body can e affected--hence they develop disorders that are less common in

others---they do not develop normally neurologically --which is why we see so

many neurological problems in these populations--but my understanding from the

research and the discussions with other parents is that it is not the genetic

differences per se that crate the differences--not directly--but indirectly--as

they interfere with  normal metabolic functioning. Therefore they can be

prevented--this is the key word---prevented and improved with appropriate

diet/supplementation and avoidance of/elimination of toxins-- be they 

chemical--as in environmental toxicity, or due to food intolerance's due to

defective enzymes which render those foods toxic for that child, or due to

opportunistic infections that further damage the immune and metabolic and

neurological functioning. these are all

related--the field of biomed treats all these problems and no two individuals

are exactly the same--therefore the treatments will be prioritized differently

but there ar ealso common factors. It is all very complex--but definitely worth

investigating because it provides a course of action beyond the intensive

therapies--which are a given of course--but the brain needs to be ready to

receive these therapies and we've found her to be a completely different child

once her metabolic differences were addressed.

 

All the best,

Elena

From: <susanargue@...>

Subject: [ ] Re: chromosonal testing?

Date: Friday, December 3, 2010, 9:17 PM

Hi Elena,

Please don't be sorry!  We all have challenges, some hit us at once and some

over a life time, but we all deal with them and keep on moving forward.

I understand your points.  Maybe if we got this diagnosis when my daughter was 6

months old, MAYBE I wouldn't have pushed her so hard in PT and OT.  And getting

this diagnosis was devestating for my husband and I on so many levels.  Our

optimism went from 100% to nearly nothing in an instant.  I got the diagnosis

news 3 weeks ago and what has it done for me?  It made me get my a** in gear and

now I push harder to get her to communicate whether it be verbally, written,

cards, computers - whatever it takes!  I am glad we did the genetic testing.

My daughter started PT at 6 months due to torticollis and hypotonia.  She

started OT about a month later.  When she was 18 months old we started speech

and she was kicked out after about 5 months because she wasn't progressing. 

" Bring her back when she starts to progress on her own " ....So between this

speech therapist and another OT we had, I've learned how to pick a good

therapist and we're currently looking for one specializing in augmentative

communication in our area. 

I do believe that our genetics doctor did metabolic testing and I will double

check next week when I get some other test results back.  I always remind myself

that all doctors " practice " medicine.  I will seek alternatives to the main

stream doctors.  I do believe a tailored diet can help a lot of medical issues

for everyone.  It's been proven in my family time & time again. 

> >

> > Anyone ever do chromosonal testing?

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