20% of autism is Mito dysfunction.....is this your child!

[Guest guest]

Hi "ru345mins"

How did your tel consult with yr DAN go? Hope that they were able to shed more light on your son's results and that it is not so severe.

My son is being investigated for a possible 3-hydroxyisobutyryl-CoA hydrolase deficiency, which is an inborn error of valine catabolism plus increased levels of hydroxy-C4-carnitine. DS suffers from being in a chronic fatigue state and this has become increasingly more as he has gotten older, although he has epilepsy, I don't quite think that this is the only reason for his lethargic state. He only has momentary bursts of energy but is just not able to sustain it at all, so he does spend an enormous amount of time lying down.

I know that nothing has been confirmed as yet for my son and we are still waiting for results from a skin biopsy (will probably take upto 6 wks or more) but I can appreciate how you are feeling. Hang on in there and try to stay positive.

emily xx

> > >> > > Hi all,> > > > > > I have read that 20% of children with ASD could have a > > mitochondrial > > > dysfunction.> > > > > > How many of your children have it?> > > > > > What complex is it?> > > > > > What treatment and effectiveness of medication?> > > > > > ....also> > > > > > it has something to do with protein....can anyone explain this > > please...> > > > > > I am just trying to establish how common it really is!> > >> >>

[Guest guest]

Hi ,

Thanks for asking...you are going through a tough time also! It is

hard waiting for results and wanting treatment to start.

I spoke to DAN yesturday. She was very abrupt with me saying he needs

his Ammonia Plasma levels done, as he has ammonia toxicity, when I

asked how soon she said straight away! I then asked why wasnt i asked

to do this weeks ago when the results were in and not wait till now!!

Anyway she went on about how dangerous his levels were and he needs

to see kidney specialist (I posted on here few weeks ago as his

creatinine was 3.5 thousand), but told it was from protein in diet by

her fellow Dr and not to worry!?...I am sure she had another childs

notes in front of her as she said is he having MB12 shots now...i

said what are they, you never mentioned them before?! So she wanted

me to go to London for blood tests and pick up MB12 shots. But I have

booked Aspire now by me as I cant have my boy 5 hrs in back of car on

his own! It is not fair on him. i said he has Mitochondrial

dysfunction and she said yes he needs Argiline (sp)1000mg a day? She

also said he needs a muscle biopsy. Well I dont have £15000 for one!

She then said she had to go and didnt know when she would be back in

the country for him to be seen again!

I cried my heart out after the call thinking my son is seriously

unwell and had the hugest guilt trip because I never went to

appointment as I had neither the funds or help to get to their.

So I have sorted Ammonia out and waiting her referral so I can get

his bloods done.

have you looked at the side effects of your son's epilepsy drugs

(if he is on any)...the reason I ask is that someone said to me their

child's ammonia went high due to those type of drugs. Just a thought

it could cause other levels to go up also! emily my son's carnitine

is high also. I am keen to keep in contact to see what they say about

your son's results. Please keep in touch on this.

My son has hypotonia and it is getting worse as he is getting older.

He has no muscles, he feels like a bag of water and is very squiggy

to touch. His energy is getting lower by the month. He cant run fast

etc gets tired out easy.

how is your son's sodium bicarb levels and pyurate levels and

amino acid levels? My son's were all very low (except Pyurate very

high).

I read somewhere last few days......that mito dysfunction is

metalbolic. So it is interconnected, both processes much effect each

other directly.

> > > >

> > > > Hi all,

> > > >

> > > > I have read that 20% of children with ASD could have a

> > > mitochondrial

> > > > dysfunction.

> > > >

> > > > How many of your children have it?

> > > >

> > > > What complex is it?

> > > >

> > > > What treatment and effectiveness of medication?

> > > >

> > > > ....also

> > > >

> > > > it has something to do with protein....can anyone explain this

> > > please...

> > > >

> > > > I am just trying to establish how common it really is!

> > > >

> > >

> >

>

[Guest guest]

I would go to the NHS. If you have a recognised condition the NHS is

absolutely fine. This woman sounds as though she doesn't know what she's

doing. If your tests show a need a muscle biopsy the NHS will do one for

nothing. A muscle biopsy is a test for mitochondrial disease. She cannot

say he has MD before she does the test. Who is she?

Sally

ru345mins wrote:

>

> Hi ,

>

> Thanks for asking...you are going through a tough time also! It is

> hard waiting for results and wanting treatment to start.

>

> I spoke to DAN yesturday. She was very abrupt with me saying he needs

> his Ammonia Plasma levels done, as he has ammonia toxicity, when I

> asked how soon she said straight away! I then asked why wasnt i asked

> to do this weeks ago when the results were in and not wait till now!!

> Anyway she went on about how dangerous his levels were and he needs

> to see kidney specialist (I posted on here few weeks ago as his

> creatinine was 3.5 thousand), but told it was from protein in diet by

> her fellow Dr and not to worry!?...I am sure she had another childs

> notes in front of her as she said is he having MB12 shots now...i

> said what are they, you never mentioned them before?! So she wanted

> me to go to London for blood tests and pick up MB12 shots. But I have

> booked Aspire now by me as I cant have my boy 5 hrs in back of car on

> his own! It is not fair on him. i said he has Mitochondrial

> dysfunction and she said yes he needs Argiline (sp)1000mg a day? She

> also said he needs a muscle biopsy. Well I dont have £15000 for one!

> She then said she had to go and didnt know when she would be back in

> the country for him to be seen again!

>

> I cried my heart out after the call thinking my son is seriously

> unwell and had the hugest guilt trip because I never went to

> appointment as I had neither the funds or help to get to their.

>

> So I have sorted Ammonia out and waiting her referral so I can get

> his bloods done.

>

> have you looked at the side effects of your son's epilepsy drugs

> (if he is on any)...the reason I ask is that someone said to me their

> child's ammonia went high due to those type of drugs. Just a thought

> it could cause other levels to go up also! emily my son's carnitine

> is high also. I am keen to keep in contact to see what they say about

> your son's results. Please keep in touch on this.

>

> My son has hypotonia and it is getting worse as he is getting older.

> He has no muscles, he feels like a bag of water and is very squiggy

> to touch. His energy is getting lower by the month. He cant run fast

> etc gets tired out easy.

>

> how is your son's sodium bicarb levels and pyurate levels and

> amino acid levels? My son's were all very low (except Pyurate very

> high).

>

> I read somewhere last few days......that mito dysfunction is

> metalbolic. So it is interconnected, both processes much effect each

> other directly.

>

>

> > > > >

> > > > > Hi all,

> > > > >

> > > > > I have read that 20% of children with ASD could have a

> > > > mitochondrial

> > > > > dysfunction.

> > > > >

> > > > > How many of your children have it?

> > > > >

> > > > > What complex is it?

> > > > >

> > > > > What treatment and effectiveness of medication?

> > > > >

> > > > > ....also

> > > > >

> > > > > it has something to do with protein....can anyone explain this

> > > > please...

> > > > >

> > > > > I am just trying to establish how common it really is!

> > > > >

> > > >

> > >

> >

>

>

> ------------------------------------------------------------------------

>

>

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17:27

>

>

[Guest guest]

Sally,

I had enough as confused over it all so I have asked for a MD prof to

look at the results to see if a biopsy is needed? I hopefully will

know in next fortnight. Hopefully he will have the all clear...I have

had so many scares lately! M heart cant take it!

> > > > > >

> > > > > > Hi all,

> > > > > >

> > > > > > I have read that 20% of children with ASD could have a

> > > > > mitochondrial

> > > > > > dysfunction.

> > > > > >

> > > > > > How many of your children have it?

> > > > > >

> > > > > > What complex is it?

> > > > > >

> > > > > > What treatment and effectiveness of medication?

> > > > > >

> > > > > > ....also

> > > > > >

> > > > > > it has something to do with protein....can anyone explain

this

> > > > > please...

> > > > > >

> > > > > > I am just trying to establish how common it really is!

> > > > > >

> > > > >

> > > >

> > >

> >

> >

> > ------------------------------------------------------------------

------

> >

> >

> > No virus found in this incoming message.

> > Checked by AVG - http://www.avg.com

> > Version: 8.0.175 / Virus Database: 270.8.5/1755 - Release Date:

29/10/2008 17:27

> >

> >

>

[Guest guest]

Good. I'm specially glad that you feel better. I think your doctor

should be helping you feel reassured by their knowledgeability, not

throwing you into ever deeper confusion and despair.

There seem to be varying degrees of MD. One that requires a muscle

biopsy and is life-threatening -- pretty unmissable I would have

thought. Let's hope and pray that your son hasn't got it. Further along

the line come degrees that can be handled with supps etc and don't need

a muscle thingy. Let's hope your son hasn't got that either but the

supps don't do any harm except to your wallet and may do good.

If you read around there's lots of argument about the proportion of

children with autism who have MD -- some studies put it as high as 20%

(from memory) and others (like the Hannah Poling stuff, describe it as

rare). The disagreement is probably because of the idea of a scale of

MD. Once you get a scale it's hard to know where something stops and

have a cut-off point. The same thing happens with ASD itself.

I'm so glad you are feeling better. If you really feel that your DAN

might have been looking at the wrong child's notes when she spoke to

you, I would seriously consider looking for a new one. This is the way

really dreadful medical errors are made

Sally

ru345mins wrote:

>

> Sally,

>

> I had enough as confused over it all so I have asked for a MD prof to

> look at the results to see if a biopsy is needed? I hopefully will

> know in next fortnight. Hopefully he will have the all clear...I have

> had so many scares lately! M heart cant take it!

>

>

> > > > > > >

> > > > > > > Hi all,

> > > > > > >

> > > > > > > I have read that 20% of children with ASD could have a

> > > > > > mitochondrial

> > > > > > > dysfunction.

> > > > > > >

> > > > > > > How many of your children have it?

> > > > > > >

> > > > > > > What complex is it?

> > > > > > >

> > > > > > > What treatment and effectiveness of medication?

> > > > > > >

> > > > > > > ....also

> > > > > > >

> > > > > > > it has something to do with protein....can anyone explain

> this

> > > > > > please...

> > > > > > >

> > > > > > > I am just trying to establish how common it really is!

> > > > > > >

> > > > > >

> > > > >

> > > >

> > >

> > >

> > > ----------------------------------------------------------

> ------

> > >

> > >

> > > No virus found in this incoming message.

> > > Checked by AVG - http://www.avg.com <http://www.avg.com>

> > > Version: 8.0.175 / Virus Database: 270.8.5/1755 - Release Date:

> 29/10/2008 17:27

> > >

> > >

> >

>

>

> ------------------------------------------------------------------------

>

>

> No virus found in this incoming message.

> Checked by AVG - http://www.avg.com

> Version: 8.0.175 / Virus Database: 270.8.5/1757 - Release Date: 30/10/2008

14:35

>

>