Re: Metabolic Peekaboo ????

[Guest guest]

My son's issues, global delays, speech, apraxic like when it came in,

etc. appear to be metabolic in nature. That is as far as we have

gotten after trips to many docs, the most helpful being a metabolic

neurologist and a gastroenterologist. Genetic testing showed him

positive for DQ1, the gluten sensitivity gene Dr. has seen in

the apraxics tested. He had breathiness and volume control issues. He

has severe gut stuff and a clinically observed milk allergy. More

testing over time. As I know more I will tell you on or off list.

Metabolic neuro uncertain of a mito issue as he is greatly improved

BUT new things crop up...recently toe walking...likely yeast. He has

a connective tissue disorder but was cleared by cardiology, had a bad

eye prescription that is resoling and no longer needs glasses,. No

one knows what to make of it. What we are doing now is due diligence

to preserve gains. They are only now somewhat stabilized so we need

continued monitoring, rule out Lymes, etc.

>

> How was that?! A metabolic peekaboo...? Tell me more .

> Laimi

[Guest guest]

Metabolic peekaboo here was that my son was aware, then not, spoke,

then did not, had constipation, then diarrhea, had yellow poop, white

poop, black poop, then did not. He spoke softly, then loudly. He

wrote, then could not. He passed the eye exam, then he did not, we

bought glasses, now he no longer needs them and the prescription was

strong. He could hear, then he could not. We still do not know if it was

allergy, autoimmune disease, toxins or what. What we know is that we did some

stuff to address it and over time he stabilized, at least for now. This stuff is

not for amateurs let me tell you. Here is an article that kind of outlines what

we saw: The word autism is irrelevant. Learning delay

or

> apraxia fits as well.

>

> Dr. Marvin Natowicz is a neurogeneticist previously practicing at

> Mass General Hosp., Boston and the Eunice Kennedy Shriver Center in

> Waltham, MA where he was the Medical Director of Genetics. He is now

> a member of the metabolic team at the Cleveland Clinic. Natowicz is

> specifically interested in metabolic disorders in autism and, in a

> 1999 Boston based " LADDERS " lecture, enumerated a number of " red

> flags " which invite investigation into underlying metabolic

> (including mito) disease in autism:

>

> Red flags requiring further scrutiny by metabolic clinicians:

>

> 1. The autism is not classic and/or the diagnosis is not

> straightforward when observed by credible specialists. Examples of

> this are children who may score as autistic or PDD-NOS by DSM-IV

> criteria because they have language, social and behavioral deficits.

> However, professionals often say that they have " too much eye

> contact " or a certain " eye quality " or are " too social " even though

> their social skills are below expectations for developmental age.

> Diagnosticians use terms like " atypical autism " or " features of

> atypical autism, " or they may say, it's " not quite autism " but we're

> not sure what it is either. This is a " squishy " diagnosis.

>

> 2. Developmental regression: Because some 25-33% of autism is

> regressive in the first year of life, some clinicians discard these

> kids as unworthy of further scrutiny. Loss of previously attained

> skills is always significant and should be carefully regarded by

> medical professionals. Video documentation is very helpful.

>

> 3. Neurological regression: This might manifest as loss of

> muscle strength or physical ability, easy fatigue or lethargy. Be on

> the look out for intermittent loss.

>

> 4. Seizures: Some 33% or more of children with autism are

> expected to show EEG abnormality or seizure activity in their

> lifetime so many clinicians discard this very important marker for

> metabolic stress.

>

> 5. Food intolerances or avoidance: If foods cause changes in

> neurological status, this is significant for metabolic disorder. A

> child who has typical or near typical muscle skills but becomes

> frankly ataxic upon eating a certain food, may have a " leaky form "

or

> partial defect associated with a given metabolic disorder. For

> example, children with less advanced maple syrup urine disease

(MSUD)

> can become clumsy after eating foods high in branched chain amino

> acids (generally proteins). The disorder may be more apparent under

> circumstances where there is a greater catabolic demand on the body

> such as during fasting (i.e. overnight) or infection. For this

> reason, first in the AM urine is often preferred for analysis. This

> underscores the need to collect urine samples during times of

obvious

> unbalance or muscle loss.

>

> 6. Given the proper educational, behavioral and therapeutic

> supports, children with autism are capable of learning. When

> children do not learn (or lose cognitive skills), one may first

> question whether the child is being taught appropriately. If the

> answer is " yes " or if the educational piece is corrected and the

> child still does not make progress, metabolic scrutiny is often

> appropriate. When observed together with one or more other " red

> flags, " lack of learning in autism demands scrutiny.

>

> 7. Family history: a second affected sibling cries out for

> metabolic scrutiny. I would venture to add here that families who

> have a history of miscarriage along with an affected child, should

> demand further metabolic work up in their child.

>

> 8. Unusual findings on physical examination including:

> *growth retardation or excessive growth

> *small head circumference esp. if this declines over time

> relative to over-all-size

> *significant motor dysfunction

> *atypical biochemical findings [examples include but not limited

> to low blood CO2, high blood ammonia, liver function abnormalities,

> creatine phosphokinase (CPK) abnormalities indicative of muscle

> injury, etc.. Some clinicians feel that values must be at least 2

> standard deviations from the mean in order to be significant. Most

> agree that flagged values (i.e. any value outside the normal

> reference range) warrent a repeat blood draw for validation.]

>

[Guest guest]

Oh Liz, it must be so frustrating to deal with such ups and downs. It's sounds

like you've been able to put together a good medical team and have managed to

stabilize things for now.

I know we talked about Lyme as a possibility and you said you tested? What about

other parasites? Since the intestines seem to be affected in your son's case,

parasites are such opportunistic life forms and in immuno-compromised

individuals can have a completly different life cycle and symptoms than they

would in a regular individual and different ones can infestate the same host and

that is actually often the case which makes the symptoms even wilder. I know

that's how I ended up with my cryptosporydium while I was undergoing infertility

treatment which suppresses your immune response and for years it has been a very

strange battle with a variety of symptoms that I just didn't know what to make

of until now. The crypto lead to unusual muscle spasms, GERD, gall bladder

damage, can create sinus problems which I have but I hope that's not from the

crypto and also lung issues which thankfully I do not have, but I do have the

leaky gut and other food intolerances and acquired

gluten intolerance--which stays for life, and then a whole array of digestive

and metabolic and neurological issues that were very difficult to piece

together, but now I know why. I only hope I can get read of them all, since I

understand they don't really have an effective treatment and they may just be

there for life. After I give nitazoxanide a chance, I will search for some

homeopathic or other alternative cure because when things like this become

systemic, simple medication just isn't enough.

Anyway, I just thought I'd tell you to be sure you tested for parasites, though

I would think you did, but be sure it was the multi-day test--4 days in a row,

otherwise it is very easy to miss them. Out of 4 stool samples only one had the

oocytes even though my infestation is pretty severe and has spread to other

areas beyond the digestive system. My husband and Ziana are next to be tested,

though we tested him a few months ago and he had a different type, not mine.

Isn't it all just wonderful. About 70% of the patients seen at this integrative

clinic for various things harbor 1 or to or even more parasites. Scary thought

huh?!

And thank you for that article LIz. I will be sure to pass it on to some moms

who are having such a hard some understanding that their child's autism may be

way more than just a neurological issue as they've been told by their doctor.

Articles such as these help a lot because they are written by medical doctors

they may just believe.

All the best to you and your family,

Elena

ilizzy03 <lizlaw@...> wrote: Metabolic peekaboo here was that my son

was aware, then not, spoke,

then did not, had constipation, then diarrhea, had yellow poop, white

poop, black poop, then did not. He spoke softly, then loudly. He

wrote, then could not. He passed the eye exam, then he did not, we

bought glasses, now he no longer needs them and the prescription was

strong. He could hear, then he could not. We still do not know if it was

allergy, autoimmune disease, toxins or what. What we know is that we did some

stuff to address it and over time he stabilized, at least for now. This stuff is

not for amateurs let me tell you. Here is an article that kind of outlines what

we saw: The word autism is irrelevant. Learning delay

or

> apraxia fits as well.

>

> Dr. Marvin Natowicz is a neurogeneticist previously practicing at

> Mass General Hosp., Boston and the Eunice Kennedy Shriver Center in

> Waltham, MA where he was the Medical Director of Genetics. He is now

> a member of the metabolic team at the Cleveland Clinic. Natowicz is

> specifically interested in metabolic disorders in autism and, in a

> 1999 Boston based " LADDERS " lecture, enumerated a number of " red

> flags " which invite investigation into underlying metabolic

> (including mito) disease in autism:

>

> Red flags requiring further scrutiny by metabolic clinicians:

>

> 1. The autism is not classic and/or the diagnosis is not

> straightforward when observed by credible specialists. Examples of

> this are children who may score as autistic or PDD-NOS by DSM-IV

> criteria because they have language, social and behavioral deficits.

> However, professionals often say that they have " too much eye

> contact " or a certain " eye quality " or are " too social " even though

> their social skills are below expectations for developmental age.

> Diagnosticians use terms like " atypical autism " or " features of

> atypical autism, " or they may say, it's " not quite autism " but we're

> not sure what it is either. This is a " squishy " diagnosis.

>

> 2. Developmental regression: Because some 25-33% of autism is

> regressive in the first year of life, some clinicians discard these

> kids as unworthy of further scrutiny. Loss of previously attained

> skills is always significant and should be carefully regarded by

> medical professionals. Video documentation is very helpful.

>

> 3. Neurological regression: This might manifest as loss of

> muscle strength or physical ability, easy fatigue or lethargy. Be on

> the look out for intermittent loss.

>

> 4. Seizures: Some 33% or more of children with autism are

> expected to show EEG abnormality or seizure activity in their

> lifetime so many clinicians discard this very important marker for

> metabolic stress.

>

> 5. Food intolerances or avoidance: If foods cause changes in

> neurological status, this is significant for metabolic disorder. A

> child who has typical or near typical muscle skills but becomes

> frankly ataxic upon eating a certain food, may have a " leaky form "

or

> partial defect associated with a given metabolic disorder. For

> example, children with less advanced maple syrup urine disease

(MSUD)

> can become clumsy after eating foods high in branched chain amino

> acids (generally proteins). The disorder may be more apparent under

> circumstances where there is a greater catabolic demand on the body

> such as during fasting (i.e. overnight) or infection. For this

> reason, first in the AM urine is often preferred for analysis. This

> underscores the need to collect urine samples during times of

obvious

> unbalance or muscle loss.

>

> 6. Given the proper educational, behavioral and therapeutic

> supports, children with autism are capable of learning. When

> children do not learn (or lose cognitive skills), one may first

> question whether the child is being taught appropriately. If the

> answer is " yes " or if the educational piece is corrected and the

> child still does not make progress, metabolic scrutiny is often

> appropriate. When observed together with one or more other " red

> flags, " lack of learning in autism demands scrutiny.

>

> 7. Family history: a second affected sibling cries out for

> metabolic scrutiny. I would venture to add here that families who

> have a history of miscarriage along with an affected child, should

> demand further metabolic work up in their child.

>

> 8. Unusual findings on physical examination including:

> *growth retardation or excessive growth

> *small head circumference esp. if this declines over time

> relative to over-all-size

> *significant motor dysfunction

> *atypical biochemical findings [examples include but not limited

> to low blood CO2, high blood ammonia, liver function abnormalities,

> creatine phosphokinase (CPK) abnormalities indicative of muscle

> injury, etc.. Some clinicians feel that values must be at least 2

> standard deviations from the mean in order to be significant. Most

> agree that flagged values (i.e. any value outside the normal

> reference range) warrent a repeat blood draw for validation.]

>

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

[Guest guest]

Thanks for your empathy. To be frank, it absolutely sucks. I know he

can get and stay well, as can his sister and they are stable at this

point and only getting better but none of this came easy and we had to

scratch and claw for help. Should not be that way. I have stuff as

well. Mostly genetic but I suspect some other stuff that may make some

things treatable but not curable. Since it is me I can live with that.

I have not done the tests you asked about and plan on shortly. It took

a long time for me to embrace the idea in part because once I did I

knew I'd have to sell it to scientist hubby. We are getting there.

[Guest guest]

Yes, I know, I'm married to a reluctant researcher by profession (hey we met in

grad school, in the same program but I was more qualitative in my research )

anyway, we both understand research methodology and know that not just funding

sources but who asks the question and how it is framed by existing literature,

how the research is designed and then carried out, analyzed and written up etc.

etc. can all impact results and biases creep in everywhere, intentionally or

not. So he is somewhat open minded, but not always and some things are a tough

sell, especially when they cost a lot of money. like HBOT, ionized water and the

like.

And he still has a hard time accepting he is gluten intolerant + others, and

still keeps doing his own research and I'd say in a most amateurish way, hoping

to find out that it's all OK and he can have slice of Pizza once in a while or

a sub no matter what the research says about it being a problem even in minute

quantities once you're affected. Men are like that, they hate to accept defeat.

He knows I'm on the right track and was forced to admit I had been right all

along in telling him to get off gluten and check for certain things, but he

never believed me until his company sponsored an integrative practice to come

and give them a presentation during the Health week something or other, and he

heard those people describe his symptoms and he finally believed them and has

been in treatment and got me to go too, since I knew all the stuff theoretically

and mostly for my daughter, but was not really ready to take the time and effort

to investigate my own health issues.

You know how moms always leave their own health concerns last.

Anyway, he mostly lets me handle Ziana's health my self and we usually discuss

things and he gets concerned about too many supplements and when is this going

to end, how do we know exactly what is working if we try so many at once etc?

Valid points, but no time to waste when it's your child's development and there

is enough info out there to suggest a path. I can't wait to try everything one

at a time and wait a few months in between etc. After all I'm not trying to

publish, but heal my own child, and as you know metabolic disorders just aren't

like that. It takes a lot of research and no two kids are alike, you have to

constantly tweak it and the progress is what tells you if you're on the right

track. And in our case the progress so far has been impressive. Sure some of it

may have happened just developmentally without any intervention, but we've seen

the increments and as I said, so far the B12 has been the most impressive for

her speech. And it;s ironic that I too was

B12 deficient, severely so and at the same time. And gosh, if the poor child

was experiencing similar things to what I was experiencing, mental fog,

irritability, forgetfulness and inability to focus, loss of sensation in

extremities, word retrieval problems and even some slurred speech... well, no

wonder she's so challenged in her speech and behavior at times. These

unbalances can really do a lot of damage and once the ball starts rolling they

all cluster up viruses, bacteria, parasites, malabsorption, genetic make up they

all become a vicious cycle that is very hard to track down and fix.

Liz, have you checked out this website out?

http://www.doctorvolpe.com/newsletters/index.html

I have only recently come across it looking for parasite treatments and I think

there may be some nuggets for you here, just things to know about in general

when you're looking for alternative options and trying to understand what the

heck could be going on with your health. I haven't fully evaluated the info

presented, but he covers a broad range of topics and the few I've looked at seem

to resonate with my way of thinking. Read what he has to say about viruses

since that;s another tricky aspect Western medicine kind of brushes under the

carpet and pretends it';s not there, just like parasites and so many other

things. Anyway, see if you can get any ideas from it.

Stay healthy! you know how these things are, nobody knows the whole truth and

everything is in flux anyway, constantly being challenged and updated. You just

take what you need.

-Elena

ilizzy03 <lizlaw@...> wrote: Thanks for your empathy. To be frank, it

absolutely sucks. I know he

can get and stay well, as can his sister and they are stable at this

point and only getting better but none of this came easy and we had to

scratch and claw for help. Should not be that way. I have stuff as

well. Mostly genetic but I suspect some other stuff that may make some

things treatable but not curable. Since it is me I can live with that.

I have not done the tests you asked about and plan on shortly. It took

a long time for me to embrace the idea in part because once I did I

knew I'd have to sell it to scientist hubby. We are getting there.

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

[Guest guest]

First off, thanks for the info. Will read it all. Love all your posts.

Second, my husband is interesting in all of this. He is more reserved

than me for sure but signed on to some things quickly, some before

me. The water filtration: only took two tries. Reason I think is we

live in NJ, the water had issues that were known townwide beyond my

concerns, and while costly, it benefitted the whole family so he

could see it as a helpful family thing and not me trying to " treat "

my son. The diet. Milk was becoming an obvious problem. We reduced it

at age two to see if he could eat more. He ate a little more, got

sick (drool, watery eyes, diarrhea) but speech was better. Every time

we added it back, problems all around (vacant stare, sluggish, worse

drool), especially poop. The gluten thing we tried simply to see and

were fortunate to get testing and an expert to confirm the need for

removal otherwise I think he would have put up a fight over time. He

was unopposed to dietary change initially because we did at first as

a two week trial because the kids would often go on hunger strikes

and all they ate was gluten and casein. When we took them off and

they ate variety it was nice. They also ate more. Getting rid of

artificials was mostly a nonissue as we didn't eat them much prior.

Getting him to buy organic was not easy and he still fights it

sometimes but too much progress has come our way for any longstanding

argument to last. I will be working again soon and when I do I will

insist that he join us in eating organic as now he buys separate

pestide ridden fruits for himself at times to save $ which irritates

me as the idea is everyone gets the best chance at health here. He

fought and fought hard about changing cookware until he found the

stuff we were using was being phased out by law in a few years. The

change in soap and toothpaste was taken pretty well. He just expects

more accuracy and less waste with some things that are trial and

error. I notice the men in my inperson group will sign on to certain

things (we are not all doing the same stuff and have differently

affected kids) but there is a limit for all and I think it stems from

the fact that there is no one place to get definitive answers for so

much of this. I think moms can sometimes better tolerate the unknown

and be willing to try something whereas for dads it can be (not

always a gender split) too difficult to believe so much threatens our

vulnerable kids and us. I was the one who saw my son's stuff and was

jumping on it from day one. Funny thing is hubby mentioned stuff

about our daughter that I scoffed at and later, in finding help for

my son we now see the stuff he mentioned may be related to her

celiac, which we found accidentally by trying to get help for my son.

At the end of the day I must say I married well and am happy my kids

have the dad they do. It has been a rough year and he really hung in

there. Just last night He cooked an entirely GFCF feast for our in

person group in honor of someone's birthday. (I can cook but he is

the chef of the house and insisted.) This marriage thing, this

parenting thing, this having kids with special needs thing...it all

takes a patience and diplomacy I never knew we had. It gets called

into question daily but I feel very, very blessed.