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Re: For KEN - Chr 9, Seizures, Glutamate,P5P (was- MRI Brain scan result....)

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Guest guest

Guest guest

Posted
Posted

Hi Ken,

The reason for this is to say thank you so much for pointing out the

Finnish Study on autism and OCD and the 9p connection and thought I'd

also send you an update on my ds's chromo deletion. The list of genes

implicated in Norman's chromosome imbalance and exact breakpoints (from

Oxford):-

deletion Chrom 9, region 9p24.3-p23 and; duplication Chrom

9, region 9p22.3-p21.1

We've also recently had a follow up with Norman's Metabolic team at

GOSH. They have been seeing ds for a few years and have been

investigating why his seizures have a positive response to P5P. DS is

under their research and we await for sequencing of the PNPO gene to

determine if this is the link, but this will take a long time being a

part of research.

Meanwhile, I referred the metabolic consultant to the Finnish study, he

was so interested in it and was so grateful to bring it to his attention

and said he'd not come across it but he wants to look at it further as

one of the genes indicated in the study, the " glutamate transporter gene

(SLC1A1) " is on the list of genes that is deleted in Norman. This may

be a link to N's problems with epilepsy and the team at GOSH was also

interested that Norman's glutamine levels have come out low in all the

amino acid tests they've done. I'm not certain if there is a link here

with vit B6 (P5P) and glutamate metabolism, so will wait to hear from

them.

It was really nice to see the consultant acknowledge and be so

appreciative of the information and also that he is keen to see anything

else I come across. The other positive is that the Metabolic team at

GOSH will be writing and asking our GP to prescribe P5P, we are hopeful

that there will be a successful outcome from this as previous attempts

from paediatrician to the GP were unsuccessful.

Thank you so much,

emily

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > From: peter peter_2_@

> >

> > > >

> >

> > > > > Subject: MRI Brain scan result -

> Sophie

> >

> > age

> >

> > > >

> >

> > > > 5 yrs 11 months

> >

> > > >

> >

> > > > > To: Autism-Biomedical-Europe

> >

> > > >

> >

> > > > > Date: Wednesday, 22 September, 2010, 18:08

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > ÃÆ'‚

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > Message from very senior UK paedeatric Doctor re our daughter

> who

> >

> > > >

> >

> > > > cannot speak more than a few syllables, and has ASD diagnosis:

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > Dear ,

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > Sophie's MRI brain scan was completely normal. There were no

> >

> > > >

> >

> > > > structural abnormalities. Normal myelination for age (the fatty

> >

> > sheaths

> >

> > > >

> >

> > > > that surround the nerves). The fluid filled spaces (ventricles)

> were

> >

> > > >

> >

> > > > also normal in shape and size.

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > If you want a formal copy of the report for your own records

it

> is

> >

> > my

> >

> > > >

> >

> > > > understanding that you will have to request this directly from

The

> >

> > > >

> >

> > > > Children's Hospital. I believe that the consultant who reported

> the

> >

> > scan

> >

> > > >

> >

> > > > will have to sign to say they are happy for the report to be

> >

> > released to

> >

> > > >

> >

> > > > you. Requests can be made through the medical records

department.

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > You are correct about the NHS stool testing, the bacterial

stool

> >

> > test

> >

> > > >

> >

> > > > performed by our laboratory look for pathogenic bacteria only

(ie-

> >

> > those

> >

> > > >

> >

> > > > that can cause infection). Those tested for were: Shigella,

> >

> > Salmonella,

> >

> > > >

> >

> > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,

Giardia

> >

> > cysts.

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > So what do we do now? More chelation and anti-biotics/

> anti-virals

> >

> > I

> >

> > > >

> >

> > > > guess... This is a bit of a shock as we thought we would find

> >

> > something

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > Best wishes

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > DAN biomed 2 years

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > ATEC down from 123 to 28

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > >

> >

>

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Share on other sites
Guest guest

Guest guest

Posted
Posted

Hi I have found your post very interesting.  My 21/2 year old ds was having seizures when trying to go to sleep.  We introduced P5P, B12 and folic acid to try and address methylation issues and the seizures stopped.  He also has low glutamine levels on blood amino acids.

How did you persue the genetic testing.  I'm struggling to get his paed. to refer for any testing.Alison R

 

Hi Ken,

The reason for this is to say thank you so much for pointing out the

Finnish Study on autism and OCD and the 9p connection and thought I'd

also send you an update on my ds's chromo deletion. The list of genes

implicated in Norman's chromosome imbalance and exact breakpoints (from

Oxford):-

deletion Chrom 9, region 9p24.3-p23 and; duplication Chrom

9, region 9p22.3-p21.1

We've also recently had a follow up with Norman's Metabolic team at

GOSH. They have been seeing ds for a few years and have been

investigating why his seizures have a positive response to P5P. DS is

under their research and we await for sequencing of the PNPO gene to

determine if this is the link, but this will take a long time being a

part of research.

Meanwhile, I referred the metabolic consultant to the Finnish study, he

was so interested in it and was so grateful to bring it to his attention

and said he'd not come across it but he wants to look at it further as

one of the genes indicated in the study, the " glutamate transporter gene

(SLC1A1) " is on the list of genes that is deleted in Norman. This may

be a link to N's problems with epilepsy and the team at GOSH was also

interested that Norman's glutamine levels have come out low in all the

amino acid tests they've done. I'm not certain if there is a link here

with vit B6 (P5P) and glutamate metabolism, so will wait to hear from

them.

It was really nice to see the consultant acknowledge and be so

appreciative of the information and also that he is keen to see anything

else I come across. The other positive is that the Metabolic team at

GOSH will be writing and asking our GP to prescribe P5P, we are hopeful

that there will be a successful outcome from this as previous attempts

from paediatrician to the GP were unsuccessful.

Thank you so much,

emily

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > From: peter peter_2_@

> >

> > > >

> >

> > > > > Subject: MRI Brain scan result -

> Sophie

> >

> > age

> >

> > > >

> >

> > > > 5 yrs 11 months

> >

> > > >

> >

> > > > > To: Autism-Biomedical-Europe

> >

> > > >

> >

> > > > > Date: Wednesday, 22 September, 2010, 18:08

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > ÃÆ'‚

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > Message from very senior UK paedeatric Doctor re our daughter

> who

> >

> > > >

> >

> > > > cannot speak more than a few syllables, and has ASD diagnosis:

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > Dear ,

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > Sophie's MRI brain scan was completely normal. There were no

> >

> > > >

> >

> > > > structural abnormalities. Normal myelination for age (the fatty

> >

> > sheaths

> >

> > > >

> >

> > > > that surround the nerves). The fluid filled spaces (ventricles)

> were

> >

> > > >

> >

> > > > also normal in shape and size.

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > If you want a formal copy of the report for your own records

it

> is

> >

> > my

> >

> > > >

> >

> > > > understanding that you will have to request this directly from

The

> >

> > > >

> >

> > > > Children's Hospital. I believe that the consultant who reported

> the

> >

> > scan

> >

> > > >

> >

> > > > will have to sign to say they are happy for the report to be

> >

> > released to

> >

> > > >

> >

> > > > you. Requests can be made through the medical records

department.

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > You are correct about the NHS stool testing, the bacterial

stool

> >

> > test

> >

> > > >

> >

> > > > performed by our laboratory look for pathogenic bacteria only

(ie-

> >

> > those

> >

> > > >

> >

> > > > that can cause infection). Those tested for were: Shigella,

> >

> > Salmonella,

> >

> > > >

> >

> > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,

Giardia

> >

> > cysts.

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > So what do we do now? More chelation and anti-biotics/

> anti-virals

> >

> > I

> >

> > > >

> >

> > > > guess... This is a bit of a shock as we thought we would find

> >

> > something

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > Best wishes

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > DAN biomed 2 years

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > ATEC down from 123 to 28

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off

> >

> > > >

> >

> > > > >

> >

> > > >

> >

> > >

> >

>

Link to comment
Share on other sites
Guest guest

Guest guest

Posted
Posted

Hello Alison,

The genetic testing was suggested early on when Norman was about 3 or 4

yrs old and was done mainly because nobody seemed to have any answers to

the numerous issues surrounding his early development. And oh yes,

there was the issue of his dysmorphic features, that could not be

explained away without it being connected to a genetic defect.

I'm glad to hear your son's seizures were stopped with this combo. Are

you still supplementing them? If I were you I'd point your

paediatrician to the literature on pyridoxine-dependant seizures and ask

her to refer you to the metabolic team at GOSH who are doing their

research into this form of epilepsy. However the metabolic team have

only been involved on a research basis and I guess we were fortunate

that Oxford were willing to offer further genetic testing following the

initial defect identified 10 yrs ago.

Besides your son's response to P5P, is there any other reason you

suspect he needs genetic testing?

Thank you, you have reminded me to go back and supplement folic acid and

B12, I was supplementing before but then stopped although we still give

mega doses of P5P and magnesium.

Hope you have success with the paediatrician, I'd like to know how you

get on.

emily

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > From: peter peter_2_@

> > > >

> > > > > >

> > > >

> > > > > > > Subject: MRI Brain scan result

-

> > > Sophie

> > > >

> > > > age

> > > >

> > > > > >

> > > >

> > > > > > 5 yrs 11 months

> > > >

> > > > > >

> > > >

> > > > > > > To:

Autism-Biomedical-Europe <Autism-Biomedical-Europe%40yaho\

ogroups.com>

> > > >

> > > > > >

> > > >

> > > > > > > Date: Wednesday, 22 September, 2010, 18:08

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > ÃÆ'Æ'‚

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > Message from very senior UK paedeatric Doctor re our

daughter

> > > who

> > > >

> > > > > >

> > > >

> > > > > > cannot speak more than a few syllables, and has ASD

diagnosis:

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > Dear ,

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > Sophie's MRI brain scan was completely normal. There were

no

> > > >

> > > > > >

> > > >

> > > > > > structural abnormalities. Normal myelination for age (the

fatty

> > > >

> > > > sheaths

> > > >

> > > > > >

> > > >

> > > > > > that surround the nerves). The fluid filled spaces

(ventricles)

> > > were

> > > >

> > > > > >

> > > >

> > > > > > also normal in shape and size.

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > If you want a formal copy of the report for your own

records

> > it

> > > is

> > > >

> > > > my

> > > >

> > > > > >

> > > >

> > > > > > understanding that you will have to request this directly

from

> > The

> > > >

> > > > > >

> > > >

> > > > > > Children's Hospital. I believe that the consultant who

reported

> > > the

> > > >

> > > > scan

> > > >

> > > > > >

> > > >

> > > > > > will have to sign to say they are happy for the report to be

> > > >

> > > > released to

> > > >

> > > > > >

> > > >

> > > > > > you. Requests can be made through the medical records

> > department.

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > You are correct about the NHS stool testing, the bacterial

> > stool

> > > >

> > > > test

> > > >

> > > > > >

> > > >

> > > > > > performed by our laboratory look for pathogenic bacteria

only

> > (ie-

> > > >

> > > > those

> > > >

> > > > > >

> > > >

> > > > > > that can cause infection). Those tested for were: Shigella,

> > > >

> > > > Salmonella,

> > > >

> > > > > >

> > > >

> > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,

> > Giardia

> > > >

> > > > cysts.

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > So what do we do now? More chelation and anti-biotics/

> > > anti-virals

> > > >

> > > > I

> > > >

> > > > > >

> > > >

> > > > > > guess... This is a bit of a shock as we thought we would

find

> > > >

> > > > something

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > Best wishes

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

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> > > > > > > ATEC down from 123 to 28

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Hi Alison,

Here are some links to various articles and findings relating to pyridoxine dependant seizures and pyridoxine responsive, as well as articles relating to seizures that respond to P5P and the genes identified so far to be responsible. Otherwise the following link directs you to various scientific papers on the subject easily.

As for your paediatrician, I can relate to your disappointment in him, you wonder why they choose to go into this profession!! Ours actually told me that she was aware of treatment of epilepsy with B6 but that she would only ever use it as a last resort, even after 13yrs of seizures she'd never considered trying it with my ds.

http://hmg.oxfordjournals.org/content/14/8/1077.abstract full pdf available;

http://www.springerlink.com/index/F7553522TR830301.pdf

http://emedicine.medscape.com/article/985667-overview

these are on pyridoxine-dependant epilepsy

http://www.indianpediatrics.net/july2003/july-633-638.htm

http://www.ncbi.nlm.nih.gov/omim/266100

article on pyridoxine dependant and pyridoxine responsive epilepsy

http://adc.bmj.com/content/81/5/431.full

and this is one I'd not come across re MRI findings in pyridoxine dependant seizures

http://www.neurology.org/content/51/1/74.abstract

hth

emily

p.s I'm interested to know how you get on with Yasko.

> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > From: peter peter_2_@> > > > > >> > > > > > > >> > > > > >> > > > > > > > > Subject: MRI Brain scan result> > -> > > > > Sophie> > > > > >> > > > > > age> > > > > >> > > > > > > >> > > > > >> > > > > > > > 5 yrs 11 months> > > > > >> > > > > > > >> > > > > >> > > > > > > > > To:> > Autism-Biomedical-Europe <Autism-Biomedical-Europe%40yahoogroups.com>> > <Autism-Biomedical-Europe%40yaho\> >> > ogroups.com>> > > > > >> > > > > > > >> > > > > >> > > > > > > > > Date: Wednesday, 22 September, 2010, 18:08> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > ÃÆ'Æ'Æ'ÃÆ'¢â‚¬Å¡> >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > Message from very senior UK paedeatric Doctor re our> > daughter> > > > > who> > > > > >> > > > > > > >> > > > > >> > > > > > > > cannot speak more than a few syllables, and has ASD> > diagnosis:> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > Dear ,> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > Sophie's MRI brain scan was completely normal. There were> > no> > > > > >> > > > > > > >> > > > > >> > > > > > > > structural abnormalities. Normal myelination for age (the> > fatty> > > > > >> > > > > > sheaths> > > > > >> > > > > > > >> > > > > >> > > > > > > > that surround the nerves). The fluid filled spaces> > (ventricles)> > > > > were> > > > > >> > > > > > > >> > > > > >> > > > > > > > also normal in shape and size.> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > If you want a formal copy of the report for your own> > records> > > > it> > > > > is> > > > > >> > > > > > my> > > > > >> > > > > > > >> > > > > >> > > > > > > > understanding that you will have to request this directly> > from> > > > The> > > > > >> > > > > > > >> > > > > >> > > > > > > > Children's Hospital. I believe that the consultant who> > reported> > > > > the> > > > > >> > > > > > scan> > > > > >> > > > > > > >> > > > > >> > > > > > > > will have to sign to say they are happy for the report to be> > > > > >> > > > > > released to> > > > > >> > > > > > > >> > > > > >> > > > > > > > you. Requests can be made through the medical records> > > > department.> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > You are correct about the NHS stool testing, the bacterial> > > > stool> > > > > >> > > > > > test> > > > > >> > > > > > > >> > > > > >> > > > > > > > performed by our laboratory look for pathogenic bacteria> > only> > > > (ie-> > > > > >> > > > > > those> > > > > >> > > > > > > >> > > > > >> > > > > > > > that can cause infection). Those tested for were: Shigella,> > > > > >> > > > > > Salmonella,> > > > > >> > > > > > > >> > > > > >> > > > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,> > > > Giardia> > > > > >> > > > > > cysts.> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > So what do we do now? More chelation and anti-biotics/> > > > > anti-virals> > > > > >> > > > > > I> > > > > >> > > > > > > >> > > > > >> > > > > > > > guess... This is a bit of a shock as we thought we would> > find> > > > > >> > > > > > something> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > Best wishes> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > > > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > DAN biomed 2 years> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > ATEC down from 123 to 28> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off> > > > > >> > > > > > > >> > > > > >> > > > > > > > >> > > > > >> > > > > > > >> > > > > >> > > > > > >> > > > > >> > > > >> > > >> > > >> > > >> > >> >> > > >>

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Guest guest

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Sorry forgot to post the link directing you to the various scientific papers, here it is http://faculty.washington.edu/sgospe/pyridoxine/publications.html

Also possibly some info on the yahoo group - "B6children : Pyridoxine Dependent Kids"

> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > From: peter peter_2_@> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Subject: MRI Brain scan> result> > > -> > > > > > Sophie> > > > > > >> > > > > > > age> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > 5 yrs 11 months> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > To:> > >> Autism-Biomedical-Europe <Autism-Biomedical-Europe%40yaho\> ogroups.com>> > > <Autism-Biomedical-Europe%40yaho\> > >> > > ogroups.com>> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Date: Wednesday, 22 September, 2010, 18:08> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > ÃÆ'Æ'Ãâ€> 'ÃÆ'¢â‚¬Å¡> > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Message from very senior UK paedeatric Doctor re our> > > daughter> > > > > > who> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > cannot speak more than a few syllables, and has ASD> > > diagnosis:> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Dear ,> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Sophie's MRI brain scan was completely normal. There> were> > > no> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > structural abnormalities. Normal myelination for age> (the> > > fatty> > > > > > >> > > > > > > sheaths> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > that surround the nerves). The fluid filled spaces> > > (ventricles)> > > > > > were> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > also normal in shape and size.> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > If you want a formal copy of the report for your own> > > records> > > > > it> > > > > > is> > > > > > >> > > > > > > my> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > understanding that you will have to request this> directly> > > from> > > > > The> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > Children's Hospital. I believe that the consultant who> > > reported> > > > > > the> > > > > > >> > > > > > > scan> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > will have to sign to say they are happy for the report> to be> > > > > > >> > > > > > > released to> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > you. Requests can be made through the medical records> > > > > department.> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > You are correct about the NHS stool testing, the> bacterial> > > > > stool> > > > > > >> > > > > > > test> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > performed by our laboratory look for pathogenic bacteria> > > only> > > > > (ie-> > > > > > >> > > > > > > those> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > that can cause infection). Those tested for were:> Shigella,> > > > > > >> > > > > > > Salmonella,> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium> cysts,> > > > > Giardia> > > > > > >> > > > > > > cysts.> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > So what do we do now? More chelation and anti-biotics/> > > > > > anti-virals> > > > > > >> > > > > > > I> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > guess... This is a bit of a shock as we thought we would> > > find> > > > > > >> > > > > > > something> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Best wishes> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > > > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > DAN biomed 2 years> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > ATEC down from 123 to 28> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > >> > > > > > >> > > > > >> > > > >> > > > >> > > > >> > > >> > >> > >> > >> >>

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Guest guest

Guest guest

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Sorry forgot to post the link directing you to the various scientific papers, here it is http://faculty.washington.edu/sgospe/pyridoxine/publications.html

Also possibly some info on the yahoo group - "B6children : Pyridoxine Dependent Kids"

> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > From: peter peter_2_@> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Subject: MRI Brain scan> result> > > -> > > > > > Sophie> > > > > > >> > > > > > > age> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > 5 yrs 11 months> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > To:> > >> Autism-Biomedical-Europe <Autism-Biomedical-Europe%40yaho\> ogroups.com>> > > <Autism-Biomedical-Europe%40yaho\> > >> > > ogroups.com>> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Date: Wednesday, 22 September, 2010, 18:08> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > ÃÆ'Æ'Ãâ€> 'ÃÆ'¢â‚¬Å¡> > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Message from very senior UK paedeatric Doctor re our> > > daughter> > > > > > who> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > cannot speak more than a few syllables, and has ASD> > > diagnosis:> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Dear ,> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Sophie's MRI brain scan was completely normal. There> were> > > no> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > structural abnormalities. Normal myelination for age> (the> > > fatty> > > > > > >> > > > > > > sheaths> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > that surround the nerves). The fluid filled spaces> > > (ventricles)> > > > > > were> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > also normal in shape and size.> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > If you want a formal copy of the report for your own> > > records> > > > > it> > > > > > is> > > > > > >> > > > > > > my> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > understanding that you will have to request this> directly> > > from> > > > > The> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > Children's Hospital. I believe that the consultant who> > > reported> > > > > > the> > > > > > >> > > > > > > scan> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > will have to sign to say they are happy for the report> to be> > > > > > >> > > > > > > released to> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > you. Requests can be made through the medical records> > > > > department.> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > You are correct about the NHS stool testing, the> bacterial> > > > > stool> > > > > > >> > > > > > > test> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > performed by our laboratory look for pathogenic bacteria> > > only> > > > > (ie-> > > > > > >> > > > > > > those> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > that can cause infection). Those tested for were:> Shigella,> > > > > > >> > > > > > > Salmonella,> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium> cysts,> > > > > Giardia> > > > > > >> > > > > > > cysts.> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > So what do we do now? More chelation and anti-biotics/> > > > > > anti-virals> > > > > > >> > > > > > > I> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > guess... This is a bit of a shock as we thought we would> > > find> > > > > > >> > > > > > > something> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > Best wishes> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > > > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > DAN biomed 2 years> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > ATEC down from 123 to 28> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > > > >> > > > > > >> > > > > > > > >> > > > > > >> > > > > > > >> > > > > > >> > > > > >> > > > >> > > > >> > > > >> > > >> > >> > >> > >> >>

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Hi Nevin,

Interesting to read here about the difficulties with animal protein, it so true with my son as well. We have only had a breakthrough with the constipation issues since we stopped all animal protein. Each time I attempt any meat, chicken we have a slowing down of the bowel, otherwise it is just the occasional egg or fish given away from starchy/carb foods. Following 's (Scotson) advice on the diet and adding LL has been the only successful way and ds can now open his bowels without using any suppositories, laxatives etc,. It does worry me though that he may not be getting sufficient iron from his current diet, so waiting for blood results from his metabolic team. DS is also very skinny, his paed saw him recently and she thought that he was not gaining weight due to puberty, it's strange how she's come up with this now, she's always been concerned about his weight before :-0 and he started going through puberty very early on.

Anyway here is the link to the Finnish study with regards the obsessive repetitive symptoms seen in both ASD and OCD and how there may possibly be a common locus on Chrom 9p24.

http://www.ncbi.nlm.nih.gov/pubmed/20410850

Chrom 9p24 is one of the identified areas of my ds genetic deletion and the glutamate transporter gene SLC1A1 is on his list of deleted genes. So although epilepsy is not mentioned in the study, it is whether or not the defect on the glutamate transporter gene may be the cause of my son's epilepsy. This is what we are hoping the metabolic team will look at.

Hth

emily > > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > From: peter peter_2_@> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Subject: MRI Brain scan result -> > > >> > > > > Sophie> > > >> > > > > >> > > >> > > > > > age> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > 5 yrs 11 months> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > To: Autism-Biomedical-Europe <http://uk.mc861.mail.yahoo.com/mc/compose?to=Autism-Biomedical-Europe%40yahoogroups.com>> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Date: Wednesday, 22 September, 2010, 18:08> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > ÃÆ'Æ'Æ'ÃÆ'¢â‚¬Å¡> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Message from very senior UK paedeatric Doctor re our daughter> > > >> > > > > who> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > cannot speak more than a few syllables, and has ASD diagnosis:> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Dear ,> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Sophie's MRI brain scan was completely normal. There were no> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > structural abnormalities. Normal myelination for age (the fatty> > > >> > > > > >> > > >> > > > > > sheaths> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > that surround the nerves). The fluid filled spaces (ventricles)> > > >> > > > > were> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > also normal in shape and size.> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > If you want a formal copy of the report for your own records> > > >> > > > it> > > >> > > > > is> > > >> > > > > >> > > >> > > > > > my> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > understanding that you will have to request this directly from> > > >> > > > The> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > Children's Hospital. I believe that the consultant who reported> > > >> > > > > the> > > >> > > > > >> > > >> > > > > > scan> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > will have to sign to say they are happy for the report to be> > > >> > > > > >> > > >> > > > > > released to> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > you. Requests can be made through the medical records> > > >> > > > department.> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > You are correct about the NHS stool testing, the bacterial> > > >> > > > stool> > > >> > > > > >> > > >> > > > > > test> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > performed by our laboratory look for pathogenic bacteria only> > > >> > > > (ie-> > > >> > > > > >> > > >> > > > > > those> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > that can cause infection). Those tested for were: Shigella,> > > >> > > > > >> > > >> > > > > > Salmonella,> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,> > > >> > > > Giardia> > > >> > > > > >> > > >> > > > > > cysts.> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > So what do we do now? More chelation and anti-biotics/> > > >> > > > > anti-virals> > > >> > > > > >> > > >> > > > > > I> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > guess... This is a bit of a shock as we thought we would find> > > >> > > > > >> > > >> > > > > > something> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Best wishes> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > > > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > DAN biomed 2 years> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > ATEC down from 123 to 28> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > >> > > >> > > > > >> > > >> > > > >> > > >> > >> > > > > >> >>

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Guest guest

Guest guest

Posted
Posted

Hi Nevin,

Interesting to read here about the difficulties with animal protein, it so true with my son as well. We have only had a breakthrough with the constipation issues since we stopped all animal protein. Each time I attempt any meat, chicken we have a slowing down of the bowel, otherwise it is just the occasional egg or fish given away from starchy/carb foods. Following 's (Scotson) advice on the diet and adding LL has been the only successful way and ds can now open his bowels without using any suppositories, laxatives etc,. It does worry me though that he may not be getting sufficient iron from his current diet, so waiting for blood results from his metabolic team. DS is also very skinny, his paed saw him recently and she thought that he was not gaining weight due to puberty, it's strange how she's come up with this now, she's always been concerned about his weight before :-0 and he started going through puberty very early on.

Anyway here is the link to the Finnish study with regards the obsessive repetitive symptoms seen in both ASD and OCD and how there may possibly be a common locus on Chrom 9p24.

http://www.ncbi.nlm.nih.gov/pubmed/20410850

Chrom 9p24 is one of the identified areas of my ds genetic deletion and the glutamate transporter gene SLC1A1 is on his list of deleted genes. So although epilepsy is not mentioned in the study, it is whether or not the defect on the glutamate transporter gene may be the cause of my son's epilepsy. This is what we are hoping the metabolic team will look at.

Hth

emily > > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > From: peter peter_2_@> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Subject: MRI Brain scan result -> > > >> > > > > Sophie> > > >> > > > > >> > > >> > > > > > age> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > 5 yrs 11 months> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > To: Autism-Biomedical-Europe <http://uk.mc861.mail.yahoo.com/mc/compose?to=Autism-Biomedical-Europe%40yahoogroups.com>> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Date: Wednesday, 22 September, 2010, 18:08> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > ÃÆ'Æ'Æ'ÃÆ'¢â‚¬Å¡> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Message from very senior UK paedeatric Doctor re our daughter> > > >> > > > > who> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > cannot speak more than a few syllables, and has ASD diagnosis:> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Dear ,> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Sophie's MRI brain scan was completely normal. There were no> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > structural abnormalities. Normal myelination for age (the fatty> > > >> > > > > >> > > >> > > > > > sheaths> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > that surround the nerves). The fluid filled spaces (ventricles)> > > >> > > > > were> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > also normal in shape and size.> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > If you want a formal copy of the report for your own records> > > >> > > > it> > > >> > > > > is> > > >> > > > > >> > > >> > > > > > my> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > understanding that you will have to request this directly from> > > >> > > > The> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > Children's Hospital. I believe that the consultant who reported> > > >> > > > > the> > > >> > > > > >> > > >> > > > > > scan> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > will have to sign to say they are happy for the report to be> > > >> > > > > >> > > >> > > > > > released to> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > you. Requests can be made through the medical records> > > >> > > > department.> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > You are correct about the NHS stool testing, the bacterial> > > >> > > > stool> > > >> > > > > >> > > >> > > > > > test> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > performed by our laboratory look for pathogenic bacteria only> > > >> > > > (ie-> > > >> > > > > >> > > >> > > > > > those> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > that can cause infection). Those tested for were: Shigella,> > > >> > > > > >> > > >> > > > > > Salmonella,> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,> > > >> > > > Giardia> > > >> > > > > >> > > >> > > > > > cysts.> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > So what do we do now? More chelation and anti-biotics/> > > >> > > > > anti-virals> > > >> > > > > >> > > >> > > > > > I> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > guess... This is a bit of a shock as we thought we would find> > > >> > > > > >> > > >> > > > > > something> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > Best wishes> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > > > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > DAN biomed 2 years> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > ATEC down from 123 to 28> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > > > >> > > >> > > > > >> > > >> > > > > > > >> > > >> > > > > >> > > >> > > > > > >> > > >> > > > > >> > > >> > > > >> > > >> > >> > > > > >> >>

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Guest guest

Posted
Posted

Hi Ken,

Yes, I'm hoping that things will be clearer soon.... Prof Clayton has

been seeing ds but now he just told us he is leaving the metabolic

clinic at GOSH and dedicating his time into research, so will continue

his research into B6 dependent epilepsy and will be looking at

sequencing ds for the PNPO gene that he identified as being implicated

in this form of epilepsy.

I can only hope that the person taking over his role will be just as

passionate and caring about this as he has been.

Before we had the recent results of a much wider deletion, several amino

acid tests had Norman's glycine being high constantly, so I looked at

this to see if there was a link with 9p24 deletion (which is of course

on 9p22). I hesitantly brought it up with Prof Clayton at the time

asking him if this was a probable cause, but as the genetic testing had

not yet been done, he was unable to comment but found this interesting

and worth investigating further.

Now with complete results from the genetic tests, I can see the GLDC

gene for glycine dehydrogenase is one of the deleted genes! So I

reminded Prof Clayton about the glycine issue again at the recent

metabolic appointment but as he'd not received the list of deleted genes

from Oxford yet he took a note of it and said they would look at this as

well.

So with both the glutamate transporter and the glycine dehydrogenase

gene missing, I'm wondering if both can be implicated in ds's condition

and it really frightens me especially reading about the mutations in the

glycine dehydrogenase gene and if or how DS is affected by it.

Ken, don't know how to ask this as it may not make sense but if a gene

is missing does it always mean that it will always cause a problem and

that that is the only gene encoding for that enzyme, function etc or are

there other genes on other chromosomes/locations that can do the same

function??

Again, very many thanks for your help with everything.

emily

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > From: peter peter_2_@

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Subject: MRI Brain scan result -

>

> > Sophie

>

> > >

>

> > > age

>

> > >

>

> > > > >

>

> > >

>

> > > > > 5 yrs 11 months

>

> > >

>

> > > > >

>

> > >

>

> > > > > > To: Autism-Biomedical-Europe

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Date: Wednesday, 22 September, 2010, 18:08

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > ÃÆ'Æ'‚

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Message from very senior UK paedeatric Doctor re our

daughter

>

> > who

>

> > >

>

> > > > >

>

> > >

>

> > > > > cannot speak more than a few syllables, and has ASD diagnosis:

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Dear ,

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Sophie's MRI brain scan was completely normal. There were no

>

> > >

>

> > > > >

>

> > >

>

> > > > > structural abnormalities. Normal myelination for age (the

fatty

>

> > >

>

> > > sheaths

>

> > >

>

> > > > >

>

> > >

>

> > > > > that surround the nerves). The fluid filled spaces

(ventricles)

>

> > were

>

> > >

>

> > > > >

>

> > >

>

> > > > > also normal in shape and size.

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > If you want a formal copy of the report for your own records

>

> it

>

> > is

>

> > >

>

> > > my

>

> > >

>

> > > > >

>

> > >

>

> > > > > understanding that you will have to request this directly from

>

> The

>

> > >

>

> > > > >

>

> > >

>

> > > > > Children's Hospital. I believe that the consultant who

reported

>

> > the

>

> > >

>

> > > scan

>

> > >

>

> > > > >

>

> > >

>

> > > > > will have to sign to say they are happy for the report to be

>

> > >

>

> > > released to

>

> > >

>

> > > > >

>

> > >

>

> > > > > you. Requests can be made through the medical records

>

> department.

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > You are correct about the NHS stool testing, the bacterial

>

> stool

>

> > >

>

> > > test

>

> > >

>

> > > > >

>

> > >

>

> > > > > performed by our laboratory look for pathogenic bacteria only

>

> (ie-

>

> > >

>

> > > those

>

> > >

>

> > > > >

>

> > >

>

> > > > > that can cause infection). Those tested for were: Shigella,

>

> > >

>

> > > Salmonella,

>

> > >

>

> > > > >

>

> > >

>

> > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,

>

> Giardia

>

> > >

>

> > > cysts.

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > So what do we do now? More chelation and anti-biotics/

>

> > anti-virals

>

> > >

>

> > > I

>

> > >

>

> > > > >

>

> > >

>

> > > > > guess... This is a bit of a shock as we thought we would find

>

> > >

>

> > > something

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Best wishes

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > DAN biomed 2 years

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > ATEC down from 123 to 28

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > >

>

> > >

>

> >

>

Link to comment
Share on other sites
Guest guest

Guest guest

Posted
Posted

Hi Ken,

Yes, I'm hoping that things will be clearer soon.... Prof Clayton has

been seeing ds but now he just told us he is leaving the metabolic

clinic at GOSH and dedicating his time into research, so will continue

his research into B6 dependent epilepsy and will be looking at

sequencing ds for the PNPO gene that he identified as being implicated

in this form of epilepsy.

I can only hope that the person taking over his role will be just as

passionate and caring about this as he has been.

Before we had the recent results of a much wider deletion, several amino

acid tests had Norman's glycine being high constantly, so I looked at

this to see if there was a link with 9p24 deletion (which is of course

on 9p22). I hesitantly brought it up with Prof Clayton at the time

asking him if this was a probable cause, but as the genetic testing had

not yet been done, he was unable to comment but found this interesting

and worth investigating further.

Now with complete results from the genetic tests, I can see the GLDC

gene for glycine dehydrogenase is one of the deleted genes! So I

reminded Prof Clayton about the glycine issue again at the recent

metabolic appointment but as he'd not received the list of deleted genes

from Oxford yet he took a note of it and said they would look at this as

well.

So with both the glutamate transporter and the glycine dehydrogenase

gene missing, I'm wondering if both can be implicated in ds's condition

and it really frightens me especially reading about the mutations in the

glycine dehydrogenase gene and if or how DS is affected by it.

Ken, don't know how to ask this as it may not make sense but if a gene

is missing does it always mean that it will always cause a problem and

that that is the only gene encoding for that enzyme, function etc or are

there other genes on other chromosomes/locations that can do the same

function??

Again, very many thanks for your help with everything.

emily

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > From: peter peter_2_@

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Subject: MRI Brain scan result -

>

> > Sophie

>

> > >

>

> > > age

>

> > >

>

> > > > >

>

> > >

>

> > > > > 5 yrs 11 months

>

> > >

>

> > > > >

>

> > >

>

> > > > > > To: Autism-Biomedical-Europe

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Date: Wednesday, 22 September, 2010, 18:08

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > ÃÆ'Æ'‚

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Message from very senior UK paedeatric Doctor re our

daughter

>

> > who

>

> > >

>

> > > > >

>

> > >

>

> > > > > cannot speak more than a few syllables, and has ASD diagnosis:

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Dear ,

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Sophie's MRI brain scan was completely normal. There were no

>

> > >

>

> > > > >

>

> > >

>

> > > > > structural abnormalities. Normal myelination for age (the

fatty

>

> > >

>

> > > sheaths

>

> > >

>

> > > > >

>

> > >

>

> > > > > that surround the nerves). The fluid filled spaces

(ventricles)

>

> > were

>

> > >

>

> > > > >

>

> > >

>

> > > > > also normal in shape and size.

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > If you want a formal copy of the report for your own records

>

> it

>

> > is

>

> > >

>

> > > my

>

> > >

>

> > > > >

>

> > >

>

> > > > > understanding that you will have to request this directly from

>

> The

>

> > >

>

> > > > >

>

> > >

>

> > > > > Children's Hospital. I believe that the consultant who

reported

>

> > the

>

> > >

>

> > > scan

>

> > >

>

> > > > >

>

> > >

>

> > > > > will have to sign to say they are happy for the report to be

>

> > >

>

> > > released to

>

> > >

>

> > > > >

>

> > >

>

> > > > > you. Requests can be made through the medical records

>

> department.

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > You are correct about the NHS stool testing, the bacterial

>

> stool

>

> > >

>

> > > test

>

> > >

>

> > > > >

>

> > >

>

> > > > > performed by our laboratory look for pathogenic bacteria only

>

> (ie-

>

> > >

>

> > > those

>

> > >

>

> > > > >

>

> > >

>

> > > > > that can cause infection). Those tested for were: Shigella,

>

> > >

>

> > > Salmonella,

>

> > >

>

> > > > >

>

> > >

>

> > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,

>

> Giardia

>

> > >

>

> > > cysts.

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > So what do we do now? More chelation and anti-biotics/

>

> > anti-virals

>

> > >

>

> > > I

>

> > >

>

> > > > >

>

> > >

>

> > > > > guess... This is a bit of a shock as we thought we would find

>

> > >

>

> > > something

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > Best wishes

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > DAN biomed 2 years

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > ATEC down from 123 to 28

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off

>

> > >

>

> > > > >

>

> > >

>

> > > > > >

>

> > >

>

> > > > >

>

> > >

>

> > > >

>

> > >

>

> >

>

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Guest guest

Guest guest

Posted
Posted

Dear Ken,

Thanks a lot.It is interesting to hear..Certainly, I will be more watchful about

glutamate-supplements/food...

Thanks

Kind regards

Nevin Penny

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > From: peter peter_2_@

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Subject: MRI Brain scan result -

> > > >

> > > > > Sophie

> > > >

> > > > > >

> > > >

> > > > > > age

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > 5 yrs 11 months

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > To:

Autism-Biomedical-Europe <http://uk.mc861.mail.yahoo.com/mc/compo\

se?to=Autism-Biomedical-Europe%40yahoogroups.com>

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Date: Wednesday, 22 September, 2010, 18:08

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

ÃÆ'Æ'Æ'ÃÆ'†'ÃÆ'Æ'¢ÃÆ'¢â€šÂ¬ÃÆ'ââ\

‚¬Â¦Ãƒâ€šÃ‚¡

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Message from very senior UK paedeatric Doctor re our daughter

> > > >

> > > > > who

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > cannot speak more than a few syllables, and has ASD diagnosis:

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Dear ,

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Sophie's MRI brain scan was completely normal. There were no

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > structural abnormalities. Normal myelination for age (the fatty

> > > >

> > > > > >

> > > >

> > > > > > sheaths

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > that surround the nerves). The fluid filled spaces (ventricles)

> > > >

> > > > > were

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > also normal in shape and size.

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > If you want a formal copy of the report for your own records

> > > >

> > > > it

> > > >

> > > > > is

> > > >

> > > > > >

> > > >

> > > > > > my

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > understanding that you will have to request this directly from

> > > >

> > > > The

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > Children's Hospital. I believe that the consultant who reported

> > > >

> > > > > the

> > > >

> > > > > >

> > > >

> > > > > > scan

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > will have to sign to say they are happy for the report to be

> > > >

> > > > > >

> > > >

> > > > > > released to

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > you. Requests can be made through the medical records

> > > >

> > > > department.

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > You are correct about the NHS stool testing, the bacterial

> > > >

> > > > stool

> > > >

> > > > > >

> > > >

> > > > > > test

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > performed by our laboratory look for pathogenic bacteria only

> > > >

> > > > (ie-

> > > >

> > > > > >

> > > >

> > > > > > those

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > that can cause infection). Those tested for were: Shigella,

> > > >

> > > > > >

> > > >

> > > > > > Salmonella,

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,

> > > >

> > > > Giardia

> > > >

> > > > > >

> > > >

> > > > > > cysts.

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > So what do we do now? More chelation and anti-biotics/

> > > >

> > > > > anti-virals

> > > >

> > > > > >

> > > >

> > > > > > I

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > guess... This is a bit of a shock as we thought we would find

> > > >

> > > > > >

> > > >

> > > > > > something

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

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> > > >

> > > > > >

> > > >

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> > > >

> > > > > >

> > > >

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> > > >

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> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Best wishes

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

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> > > >

> > > > > >

> > > >

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> > > >

> > > > > >

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> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > DAN biomed 2 years

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > ATEC down from 123 to 28

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

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> > > >

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> > > >

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> > > >

> > >

> > >

> > >

> >

>

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Guest guest

Guest guest

Posted
Posted

Dear Ken,

Thanks a lot.It is interesting to hear..Certainly, I will be more watchful about

glutamate-supplements/food...

Thanks

Kind regards

Nevin Penny

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > From: peter peter_2_@

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Subject: MRI Brain scan result -

> > > >

> > > > > Sophie

> > > >

> > > > > >

> > > >

> > > > > > age

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > 5 yrs 11 months

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > To:

Autism-Biomedical-Europe <http://uk.mc861.mail.yahoo.com/mc/compo\

se?to=Autism-Biomedical-Europe%40yahoogroups.com>

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Date: Wednesday, 22 September, 2010, 18:08

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

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> > > >

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> > > >

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> > > >

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> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

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> > > >

> > > > > >

> > > >

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> > > >

> > > > > >

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> > > >

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> > > >

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> > > > > > > > >

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> > > >

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> > > >

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> > > >

> > > > > > > > >

> > > >

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> > > >

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> > > >

> > > > > > > >

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> > > >

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> > > >

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> > > >

> > > > > >

> > > >

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> > > >

> > > > > >

> > > >

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> > > >

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> > > >

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> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

ÃÆ'Æ'Æ'ÃÆ'†'ÃÆ'Æ'¢ÃÆ'¢â€šÂ¬ÃÆ'ââ\

‚¬Â¦Ãƒâ€šÃ‚¡

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

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> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

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> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Message from very senior UK paedeatric Doctor re our daughter

> > > >

> > > > > who

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > cannot speak more than a few syllables, and has ASD diagnosis:

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Dear ,

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Sophie's MRI brain scan was completely normal. There were no

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > structural abnormalities. Normal myelination for age (the fatty

> > > >

> > > > > >

> > > >

> > > > > > sheaths

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > that surround the nerves). The fluid filled spaces (ventricles)

> > > >

> > > > > were

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > also normal in shape and size.

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > If you want a formal copy of the report for your own records

> > > >

> > > > it

> > > >

> > > > > is

> > > >

> > > > > >

> > > >

> > > > > > my

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > understanding that you will have to request this directly from

> > > >

> > > > The

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > Children's Hospital. I believe that the consultant who reported

> > > >

> > > > > the

> > > >

> > > > > >

> > > >

> > > > > > scan

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > will have to sign to say they are happy for the report to be

> > > >

> > > > > >

> > > >

> > > > > > released to

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > you. Requests can be made through the medical records

> > > >

> > > > department.

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > You are correct about the NHS stool testing, the bacterial

> > > >

> > > > stool

> > > >

> > > > > >

> > > >

> > > > > > test

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > performed by our laboratory look for pathogenic bacteria only

> > > >

> > > > (ie-

> > > >

> > > > > >

> > > >

> > > > > > those

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > that can cause infection). Those tested for were: Shigella,

> > > >

> > > > > >

> > > >

> > > > > > Salmonella,

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,

> > > >

> > > > Giardia

> > > >

> > > > > >

> > > >

> > > > > > cysts.

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > So what do we do now? More chelation and anti-biotics/

> > > >

> > > > > anti-virals

> > > >

> > > > > >

> > > >

> > > > > > I

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > guess... This is a bit of a shock as we thought we would find

> > > >

> > > > > >

> > > >

> > > > > > something

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > Best wishes

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > DAN biomed 2 years

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > ATEC down from 123 to 28

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > > >

> > > >

> > > > > >

> > > >

> > > > > > >

> > > >

> > > > > >

> > > >

> > > > >

> > > >

> > >

> > >

> > >

> >

>

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Share on other sites
Guest guest

Guest guest

Posted
Posted

Hi Ken,

Thank you for the link. I've just registered and waiting approval so will let

you know if there are families doing any dietary restriction or on the spectrum.

cheers,

emily

>

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> >

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> > >

>

> >

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> > > > >

>

> >

>

> > >

>

> >

>

> > > > > > > > From: peter peter_2_@

>

> >

>

> > >

>

> >

>

> > > > >

>

> >

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> > >

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> >

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> > > > > > > > Subject: MRI Brain scan result

>

> -

>

> >

>

> > >

>

> >

>

> > > > Sophie

>

> >

>

> > >

>

> >

>

> > > > >

>

> >

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> > >

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> >

>

> > > > > age

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> >

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> > >

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> > > > >

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> >

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> > >

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> >

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> > > > > > >

>

> >

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> > >

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> >

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> > > > >

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> > >

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> >

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> > > > > > > 5 yrs 11 months

>

> >

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> > >

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> >

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> > > > >

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> >

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> > >

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> >

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> > > > > > >

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> >

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> > >

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> > > > >

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> >

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> > >

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> >

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> > > > > > > > To: Autism-Biomedical-Europe

>

> >

>

> > >

>

> >

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> > > > >

>

> >

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> > >

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> >

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> > > > > > >

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> >

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> > >

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> >

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> > > > >

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> >

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> > >

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> >

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> > > > > > > > Date: Wednesday, 22 September, 2010, 18:08

>

> >

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> > >

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> >

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> > > > > > > > ÃÆ'Æ'Æ'ÃÆ'â€

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> > > > > > > > Message from very senior UK paedeatric Doctor re our

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> > > > > > > cannot speak more than a few syllables, and has ASD

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> > > > > > > > Sophie's MRI brain scan was completely normal. There were

>

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> > > > > > > structural abnormalities. Normal myelination for age (the

>

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> > > > > > > that surround the nerves). The fluid filled spaces

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>

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>

> > > > > > > > If you want a formal copy of the report for your own

>

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>

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>

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> > > > > > > understanding that you will have to request this directly

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>

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>

> > > > > > > Children's Hospital. I believe that the consultant who

>

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>

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> > > > > > > will have to sign to say they are happy for the report to be

>

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>

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>

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>

> > > > > > > you. Requests can be made through the medical records

>

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>

> > >

>

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>

> > > department.

>

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>

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>

> > > > > > > > You are correct about the NHS stool testing, the bacterial

>

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>

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>

> > > stool

>

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>

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>

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>

> > > > > > > performed by our laboratory look for pathogenic bacteria

>

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>

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>

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> > > > >

>

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>

> > >

>

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>

> > > > > > > that can cause infection). Those tested for were: Shigella,

>

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>

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> > > > >

>

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>

> > >

>

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>

> > > > > Salmonella,

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> > > > > > > E Coli (type 0157), Campylobacter, Cryptosporidium cysts,

>

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>

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>

> > > Giardia

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> > > > > > > > So what do we do now? More chelation and anti-biotics/

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> > > > anti-virals

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> > > > > > > guess... This is a bit of a shock as we thought we would

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> > > > > > > > Best wishes

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> > > > > > > > DAN biomed 2 years

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> > > > > > > > ATEC down from 123 to 28

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> > > > > > > > 24 rounds Cutler chelation 6 mg DMSA/ALA 84 on/84 off

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