Re: mitochondtrial disorders and speech--possib...

[Guest guest]

Hi there,

What leads you to believe this? Have you tested?  My feelings on this are that

it is too new a field to be able to know it all. I think they can more readily

pick up the obvious multi-systemic  cases but in cases where the damage is more

subtle and the child is NOT wasting away, but affected more subtly

neurologically and immune system wise it is much more difficult to do, which

means that what ever caused the mitochondrial response to begin with may be more

difficult to address. It is also interesting to note that this can be something

people are born with, or it can be acquired just like gluten intolerance and

this is the reality that clinical practice overlooks so often.

Our kids have obvious malabsorption problems and often these are linked to

vitamin E. carnatine, fatty acids etc. Sometimes these are

present in sufficient quantities in the diet or plasma but do not get into the

organs and cells and supplementation helps as we see with the Pro EFA and

vitamin E in particular since most of us on this list have tried this

combination.  So it is a cell transmission issue and this implies mitochondrial

dysfunction.

Definitely food for thought, and to me the most important thing is that there

are always degrees of mitochondrial insufficiency just like with anything else

and clinical standards are very often designed to capture the true Celicas for

example, the ones that waste away or have severe intestinal damage, not the ones

that have neurological manifestations exclusively.  Perhaps the process we

should all be focusing on is the acquired mitochondrial dysfunction which can

occur due to increased levels of toxicity as they clearly do in Alzheimer's and

Parkinson cases in the elderly where not just toxins but also gluten has and

is increasingly implicated as well.

Here's another interesting piece I found on how mitiochiondrial dysfunction may

affect children on the spectrum:

 

What is mitochondrial DNA?

 

What is

mitochondrial DNA? - Genetics Home Reference

 

Although most DNA

is packaged in chromosomes within the nucleus, mitochondria also have a small

amount of their own DNA. This genetic material is known as mitochondrial

DNA or mtDNA.

Mitochondria are structures within cells that convert the energy from food into

a form that cells can use. Each cell contains hundreds to thousands of

mitochondria, which are located in the fluid that surrounds the nucleus (the

cytoplasm). Mitochondria produce energy through a process called oxidative

phosphorylation. This process uses oxygen and simple sugars to create adenosine

triphosphate (ATP), the cell’s main energy source. A set of enzyme complexes,

designated as complexes I-V, carry out oxidative phosphorylation within

mitochondria.

In addition to energy production, mitochondria play a role in several other

cellular activities. For example, mitochondria help regulate the

self-destruction of cells (apoptosis). They are also necessary for the

production of substances such as cholesterol and heme (a component of

hemoglobin, the molecule that carries oxygen in the blood). Mitochondrial DNA

contains 37 genes, all of which are essential for normal mitochondrial

function. Thirteen of these genes provide instructions for making enzymes

involved in oxidative phosphorylation. The remaining genes provide instructions

for making molecules called transfer RNAs (tRNAs) and ribosomal RNAs (rRNAs),

which are chemical cousins of DNA. These types of RNA help assemble protein

building blocks (amino acids) into functioning proteins.

Biochemical observations of mitochondrial dysfunction in autism

New Page 4

Common features in those with autism include: raised blood or serum lactate,

regional disturbances in glucose uptake in the brain, particularly in the

cortex, and reduced brain levels of high-energy phosphate compounds.These

observations would suggest a mitochondrial energy disorder in the brain.

Mitochondrial dysfunction may result from any of the following:

1.

Impairment of mitochondrial fatty acid oxidation due to carnitine deficiency.

Carnitine pumps fatty acids into the mitochondria. With the help of vitamins

B6, C, and

niacin, the body produces carnitine from the amino acids lysine and methionine

found in high quality protein. Adequate amounts are not thus formed so some

carnitine must come from muscle and organ meats in the diet for it is not found

in vegetables. Obviously, a low protein or a vegetarian diet would likely

create a deficiency of this vital nutrient, and impair the mitochondrial

function causing a loss of energy and a build up of triglycerides and fatty

acids in the blood and cells.

The Cincinnati Children’s Hospital Medical Center’s Department of Enzymology

has identified two patients with the " carbohydrate deficient glycoprotein

syndrome " through alpha-1-antitrypsin phenotyping. The carbohydrate

deficient glycoprotein in the serum of these patients produces a band on

polyacrylamide gel isoelectric focusing that moves cathodally of the Z-band. In

the area of carnitine deficiency, there is, for example, less than 5% of normal

muscle carnitine concentration. After carnitine supplementation, patients

unable to talk or walk, with hypotonic musculature and symptoms of autism,

became able to walk with the help of a walker. They could stand alone for short

periods, and they acquired an interest in their surroundings. The common

findings of carnitine deficiency were an impaired ability to walk, muscular

hypotonia, reduced muscle carnitine concentration, and an improvement in

locomotion while on carnitine.

Cellular energy production itself produces free radicals that can damage cell

structures, including the mitochondria, and ultimately lead to various diseases

if the body’s natural antioxidant capacity is inadequate. Acylcarnitine and

lipoic acid are both endogenous (naturally present in the body) antioxidants

that have been shown to restore the mitochondrial function and reduce free

radical damage. (Hagen TM et al., 1998; Lyckesfeldt J et al., 1998). Together

with coenzyme Q10 and NADH, they work to maintain the function of the

mitochondria.

It should be noted that not only fatty acids are needed, but glucose must be

able to enter the cell to produce energy needed by the cell and by the muscles.

Just as L-carnitine pumps in fatty acids, Alpha Lipoic Acid pumps in glucose.

Its supplementation tends to overcome syndrome X, where the cells are resistant

to glucose. This resistance produces unnaturally high blood levels of insulin

and sugar.

Since the amino acid L–carnitine is frequently lacking in the autistic, this

could predispose to heart problems and a lack of energy. The primary function

of carnitine is to escort fatty acids into the mitochondrial furnace where the

fat is burned to fuel ATP for energy. In this action it reduces blood levels of

triglycerides and cholesterol dramatically, and aids weight loss. It boosts

energy levels for those suffering from elevated blood sugar levels and kidney

insufficiency. This reduces fatigue. Tests by Dr. Carl Pepine at the University

of Florida showed that carnitine increases blood flow in the heart by 60%, and

reduced vascular resistance 25%. It reduces heart arrhythmias by 58% to 90% in

patients with chronic heart problems. He reported that patients were enabled to

walk 80% farther before discomfort set in. Dr. A. Feller (1988) reported in the

Journal of Nutrition that arrhythmias are usually a result of a carnitine

deficiency. The heart is enabled to pump more blood, with fewer beats, and with

less tendency toward oxygen deprivation. Vitamin E would be its ally in this

for it enables muscles to function on 40% less oxygen. This would relieve

angina and reduce risk of heart attack. A deficiency may result in chronic

tiredness, fatigue, nausea, dizziness and anemia. Lysine is converted to

carnitine, and carnitine increases Acetylcholine an important neurotransmitter.

Autonomic system abnormalities can be caused by disturbances in Acetylcholine

levels, known to be deficient in both autism and mercury poisoning.

L-carnitine (500 mg capsules twice daily on an empty stomach, or with a

carbohydrate snack) reduced ketone, triglyceride (up to 40%), and cholesterol

(up to 21%) levels, and increased HDL levels (up to 15%). The suggested use is

200 mg three times a day, increasing after one week to 400 mg three times

daily, to improve brain energy levels. Basic L-carnitine may draw moisture and

become unstable, and it is not the most bioavailable. While the citrate,

lactate, and tartrate are good forms, the most effective form is L-carnitine

fumarate.

It is up to 9% more bioavailable. Carnitine will conserve calcium, magnesium,

and potassium, and may reduce heart arrhythmias and fatigue—which will reduce

risk of heart attack.

Due to increased fat burning, carnitine supplementation creates a significant

need for caloric increase. If none is supplied there will likely be weight

loss. It also generates increased free radicals that can severely damage cells

unless additional antioxidants are supplied—particularly vitamins C and E and

selenium. Additionally, lower than normal levels of certain essential fatty

acids, such as cholesterol (needed as the precursor to many hormones) and

triglycerides (a large proportion of the blood’s fatty substances) can be

exacerbated by supplemental carnitine. One Mother says, " We lost our

seizure control, and did not regain it until calories had been upped

significantly...Please, everyone, let’s consider very carefully the premise

that carnitine supplementation creates a significant need for caloric

increase. " The level of fatty acids in the autistic child is an important

factor because the endocrine system and its hormones, the brain and its

neurotransmitters, the myelin sheath, and all the immune system components are

derived from lipids (fats).

However, mitochondria cannot metabolize very long-chain, fatty acids (VLCFA)

which many autistic have accumulated; so, if carnitine pumps additional ones

into the cell, they can accumulate in the cells where they have toxic effects.

Adrenoleukodystrophy (ALD) is a rare, fatal, degenerative disease caused by a

build up of very long-chain, fatty acids (c22 to c28) that destroys the myelin

(protective sheath) of the nerves. Canola oil is a very long-chain, fatty acid

oil (c22). Inability to handle VLCFAs is almost universally true in autistic

children, but is also seen in Alzheimer’s patients, chronic fatigue, and

cardiovascular disease. The accumulation of VLCFAs inside the cell membrane

represents defects in peroxisomal, beta-oxidation that is likely the result of

hypothyroidism. Therefore, the toxic aspect so often described in autism may be

defined clearly through examination of Red Blood Cell lipids with elevation of

VLCFAs being a reflection of blocked detoxification mechanisms (that is, the

Phase I liver enzymes are sluggish). These can be enhanced with milk thistle

and other herbs mentioned herein. In some cases the VLCFA DHA is reduced. In

that case supplementation of DHA has proven most helpful in relieving many

symptoms of VLCFA disease.

Carnitine supplementation holds great promise, and it must be supplemented when

Depakote™ is being used, but I think

there are some things we must guard against. Additional carnitine will pump

more fatty acids into the mitochondria to produce additional energy. It would

help to know from a previous blood test that the triglycerides and cholesterol

were normal or elevated. When using carnitine, to avoid creating a deficiency

in fatty acids, we must supplement with Evening Primrose and cod-liver oils as

outlined elsewhere in this paper, and ensure the child is getting enough

calories for his size and activity. The wild card is the VLCFAs. To determine

their status run the Red Blood Cell Lipid test. Symptoms of fatty acid

deficiency would tend to be thirst, dry skin and hair, brittle nails, excess

urination, dandruff, eczema, and rough skin. If these symptoms, or low

triglyceride/cholesterol levels, or excess VLCFAs were present, I would not

supplement carnitine, until these problems were being corrected. As I

understand it, carnitine could lower the fatty acids and blood fats adversely,

and could overload the cell with VLCFAs that it cannot burn. Look to the

thyroid, do the iodine test, and if indicated, support the thyroid.

2.

A second cause of mitochondrial energy disorder is inflammation associated with

the release of excess nitric oxide. The herb Ginkgo Biloba selectively

increases the release of nitric oxide synthase, the enzyme that reacts with

arginine to produce nitric oxide. It should be avoided in this instance. Excess

nitric oxide can cause uncoupling of oxidative phosphorylation as well as

inhibiting the Krebs cycle enzyme, aconitase. This will result in organic

acidemias, and low mitochondrial energy production. Lactic acidosis and

carnitine deficiency in autistic patients suggest excessive nitric acid

production in mitochondria (Lombard, 1998, Chigani, et al, 1999), and mercury

may be a participant. Methyl mercury accumulates in the mitochondria, where

it inhibits several mitochondrial enzymes, reduces ATP production and Ca2+

(calcium) buffering capacity, and disrupts mitochondrial respiration and

oxidative phosphorylation (Atchison & Hare, 1994; Rajanna and Hobson, 1985;

Faro et al., 1998). The behavior associated with excess NO production in the

autist is maniacal laughter.

Neurological problems are among the most common and serious of mercury

poisoning, and include memory loss, moodiness, depression, anger and sudden

bursts of anger/rage, self-effacement, suicidal thoughts, lack of

strength/force to resolve doubts or resist obsessions or compulsions. Mercury

causes decreased lithium levels, which is a factor in neurological diseases

such as depression and Alzheimer’s. Lithium protects brain cells against

excess

glutamate induced excitability and calcium influx, and low levels cause

abnormal brain cell balance and neurological disturbances. Medical texts on

neurology point out that chronic mercurialism is often misdiagnosed as dementia

or neurosis or functional psychosis.

Mercury at extremely low levels interferes with formation of tubulin producing

neurofibrillary tangles in the brain similar to those observed in Alzheimer’s

patients with high levels of mercury in the brain. Mercury and the induced

neurofibrillary tangles appear to produce a functional zinc deficiency in the

AD sufferers, as well as causing reduced lithium levels. Mercury binds to

hemoglobin in the red blood cell, and will reduce the amount of oxygen that can

be carried in the blood—a major cause of Fatigue. Mercury at a level of 1 part

per ten million will actively destroy the membrane of red blood cells. Mercury

binds with cell membranes interfering with sodium and potassium enzyme

functions, causing excess membrane permeability, especially in terms of the

blood-brain barrier. Less than 1 ppm mercury in the blood stream can impair the

blood-brain barrier. Mercury also blocks the immune function of magnesium and

zinc. Exposure to mercury vapor causes decreased zinc and methionine

availability, depresses rates of methylation (a bodily process of converting

inorganic forms to organic forms, part of the detox process), and increases

free radicals—all factors in increased susceptibility to chronic disease and

to

cancer. Mercury, especially organic mercury, causes accumulation of calcium

into the cells, therefore, one does not want to take much calcium, and one

wants to have a high ratio of magnesium to calcium, that is, keep magnesium up

and calcium down to reduce the accumulative effects. Mercury also blocks the

metabolic action of manganese, allowing an increased production of NO and the

entry of calcium ions into cell.

Magnesium and manganese are the doorkeepers regulating the proper amount of

calcium entering the cell. Mercury, if excreted in the urine, pulls out

magnesium from the body, thus increasing the manganese relative to magnesium

levels. Rarely is mercury excreted and most commonly it migrates to the brain

where it can drive both brain toxicity and increases in manganese. In either

case, increases in manganese relative to magnesium may increase measles viral

mutations. Shifts in magnesium to manganese cations in the body can

significantly enhance viral mutation rates by 6-10 fold.

The significance of this in your child’s life may be seen in the following: A

group measured mercury levels in 15 preterm and 5 term infants before and after

Hep B vaccination. According to the group, after-vaccination mercury levels in

both preterm and term infants showed a significant increase. Mercury levels in

the preterm infants were three times higher than in the term infants, and this

was statistically significant, according to the team—Dr. V. Stajich

from Mercer University, Atlanta, Georgia,

A recent study demonstrates that oral administration of N-acetylcysteine (NAC),

a widely available and largely nontoxic amino acid derivative, produces a

profound acceleration of urinary methyl mercury excretion in mice. Mice that

received NAC in the drinking water (10 mg/ml) starting at 48 hr after methyl

mercury administration excreted from 47 to 54% of the 203 Hg in urine over the

subsequent 48 hr, as compared to 4-10% excretion in control animals. When NAC

was given from the time of methyl mercury administration, it was even more

effective at enhancing urinary methyl mercury excretion, and at lowering tissue

mercury levels. In contrast, excretion of inorganic mercury was not affected by

oral NAC administration. Three other nontoxic elements that readily bond to

mercury rendering it less toxic and more easily excretable are Oxygen, Sulfur,

and Selenium. Mercury binds strongly to selenium, a trace element that is

needed for cellular health, depleting its stores. Latest research shows a

conclusive connection between reduced levels of Selenium and increased risk of

cancers.

A lack of selenium also affects the conversion of T4 thyroid hormone to T3.

Stress reduces the conversion of T4 to the more active T3. Both cadmium and

mercury inhibits the conversion of thyroxine (T4) to active T3. In a Chinese

study, researchers found that selenium and vitamin E deficiency reduced blood

levels of T3 by more than one-third. Vitamin E was thought to protect the T4/T3

conversion process. All myelination is controlled by T3. Free T3 regulates

serotonin and melatonin metabolism. T3 controls serotonin uptake, binding to

its receptors, so if there are serotonin problems, look to the thyroid. The

active hormone T3 converts from T4, and to do this you need a specific ratio of

zinc to copper of about 8:1. If you have had hair analysis and or fecal testing

or blood tests you may know what your ratio is. If not, I would suggest finding

out. Mercury (like in amalgam, and thimerosal in vaccines) will also cause

hypothyroidism by interfering with selenoenzymes (Watanabe et al, 1999), and

mercury competes and really messes up zinc absorption/utilization creating all

kinds of effects throughout the body.

3.

Defects in respiratory chain enzymes. Pyruvate Dehydrogenase or mitochondrial

respiratory chain defects, that is, NAD, NADH, Coenzyme Q10, and cytochrome

oxidase deficiency. Although we find a variety of autistic phenotypes to have

associated mitochondrial abnormalities, the most common is nonspecific PDD,

typically of a form that manifests language and cognitive regression or

stagnation during the second year. Most surprising among multiplex families is

that the biochemical and clinical markers of mitochondrial disease often

segregate in an autosomal dominant manner (that is, genetically induced).

Although no molecular lesion has yet been found in the autosomal dominant

families, the biochemical findings are most consistent with abnormal

mitochondrial

complex I activity (that is NAD/NADH activity—WSL). Early and careful

evaluation of autistic children for these more subtle mitochondrial

disturbances may rescue them from more severe brain injury (Kelley, ,

Kennedy Krieger Institute, s Hopkins University, Baltimore, MD). Note that

the acetylaldehyde toxin given off by candida yeast inhibits the NAD/NADH

exchange.

4.

Excess glutamate exposure, a common and increasing source being MSG. Generally,

autistic children show low glutamine, high glutamate readings. Plasma levels of

glutamic acid and aspartic acid are elevated even as levels of glutamine and

asparagine were low (Moreno-Fuenmayor et al, 1996). Mercury inhibits the uptake

of glutamate, with consequent elevation of glutamate levels in the

extracellular space (O’Carroll et al, 1995). Thimerosal enhances extracellular

free arachidonate and reduces glutamate uptake (Volterra et al, 1992).

Excessive glutamate is implicated in epileptiform activities (Scheyer, 1998;

Chapman et al, 1996). Cells that are without oxygen may release excessive

glutamate. Low oxygen is common in autistics. Children’s forming brains are

four times more sensitive to neuro-excitotoxins. The lower the energy

production of the cell, the more susceptible it is to excitotoxicity. Low

magnesium levels (common in " our " children) can double free radical

production and magnify their toxicity! The generation of increased levels of

free radicals within the cell can activate the p53 tumor-suppressor gene

triggering apoptosis (cell suicide). Excess glutamate can kill neurons by

necrosis (by its allowing excess calcium into the cells) as well. Magnesium is

the calcium regulator. Elevated plasma glutamate lowers cellular GSH by

inhibiting cystine uptake.

Additionally, high levels of insulin inhibit an enzyme in the cell wall

responsible for helping to regulate proper intracellular calcium balance. Since

the interstitial fluid outside the cell usually contains a thousand times

higher concentration of calcium than is normally present within the cell, this

excess insulin response to our improper (high carbohydrate) diet simply opens

the calcium floodgates into the cell by inhibiting this membrane enzyme.

Mercury, and especially organic mercury, causes accumulation of calcium into

the cells, therefore, one does not want to take much calcium, at least one

wants to have a high ratio of Mg/Ca, that is, keep magnesium up and calcium

down to reduce the accumulative effects—and supplement manganese. Otherwise,

excessive calcium will enter the cells, impairing metabolism, producing

cross-linkages and premature aging, and eventually producing dangerous arterial

spasms. Manganese is a natural chelating agent when taken in the food supply or

as a supplement. Manganese and magnesium will do everything a calcium channel

blocker

will do, but more naturally and effectively. There will be no excessive

intracellular infiltration by calcium transporting through the cell membrane as

long as manganese and magnesium are present.

Manganese works in a similar way to magnesium’s characteristic of displacing

calcium ions. One of the keys to mercury’s effects on health may be its

ability

to block the functioning of manganese, a key mineral required for physiological

reactions. New studies in humans and in the laboratory show that PCBs and

mercury interact to cause harm at lower thresholds than either substance acting

alone.

Though forced to remove MSG, baby formula today frequently utilizes caseinate

that contains a high enough level of glutamate to endanger a newborn’s brain!

These excitotoxic additives are hidden under the terms hydrolyzed vegetable

protein, protein isolate, protein extracts, caseinate, and natural flavorings!

Another damaging excitotoxin is Aspartame™

that has increased exponentially in all our foods. Some of the many aspartame

toxicity symptoms reported include seizures, headaches, memory loss, tremors,

convulsions, vision loss, nausea, dizziness, confusion, depression,

irritability, anxiety attacks, personality changes, heart palpitations, chest

pains, skin diseases, loss of blood sugar control, arthritic symptoms, weight

gain (in some cases), fluid retention, and excessive thirst or urination. The

phenylalanine in aspartame lowers the seizure threshold and depletes serotonin.

Lowered serotonin triggers manic depression, panic attacks, anxiety, rage, mood

swings, suicidal tendencies, etc. Clearly, regular exposure to a toxic

substance such as formaldehyde may worsen, or in some cases contribute to the

development of chronic diseases. Other excitotoxins include fluoride, aluminum,

iron overload, and organophosphate pesticides and herbicides.

It would appear that the pathology of autism is one of immune dysregulation,

with associated food intolerance, and opportunistic infection that triggers

excessive production of the inflammatory cytokines and nitric oxide leading

eventually to neural mitochondrial inhibition. Dr Rosemary Waring tells us that

the excess cytokines reduces available sulfates also.

Nutrients that may improve the mitochondrial function include, magnesium,

Coenzyme Q10, N-acetylcarnitine, N-acetylcysteine, vitamins B1, B2,

niacin/niacinamide, folic acid, NAD (Nicotinamide Adenine Dinucleotide),

alpha-ketoglutarate, and antioxidants such as vitamin E, C, alpha lipoic acid,

manganese, and selenium. Supplementation of glutathione has improved skill with

numbers and fine motor skills. Oral glutathione is expensive, and not well

assimilated, though of benefit to the gut. If you use it, take it with some

vitamin C that will improve its assimilation by up to 20%. Kirkman has a lotion

for transdermal application that will overcome the absorption problem. Use

both. Where possible, help the body produce its own supply.

Biochemical observations in Autism

New Page 4

With regards

Lew

From: stehn4@... <stehn4@...>

Subject: Re: [ ] [APRAX] mitochondtrial disorders and

speech--possib...

Date: Sunday, July 27, 2008, 11:36 PM

I believe my son has mitochondria disorder. Charlotte Henry

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[Guest guest]

my son has pdd-nos apraxia juvenile diabetes, hypotonia, hearing problems. I

have a friend who mentioned that I should look into it after she heard that Josh

had diabetes. Her daughter use to be a classmate to Josh. Her daughter has

mitochondria also.He also has developmental delays. He did not talk until he was

3.

Re: [ ] [APRAX] mitochondtrial disorders and

speech--possib...

Date: Sunday, July 27, 2008, 11:36 PM

I believe my son has mitochondria disorder. Charlotte Henry

**************Get fantasy football with free live scoring. Sign up for

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[Guest guest]

Gosh, it's not something we want for our children by any means, but given the

growing body of research that points in this direction when no known cause of

neurological affliction is present, it sure makes sense to look into it just to

see if maybe there are things we could do to address it.  I noted that the

mitochondrial disorders listed are considered inmate or genetic, though there is

some recognition that they can be acquired but I've not seen too much on that

yet, just the statement that environmental toxins could sometimes lead to

mitochondrial dysfunction--- but that couldn't really be possible on our planet,

now could it?!

Unfortunately most of these mitochondrial disorders are pretty severe and multi

systemic and there are no " cures " but dietary interventions and therapy. Well,

that seems to be the case for many of our neurologically affected kids too so

it''s really not such a leap, but rather an attempt to understand and possibly

explain some of the common mechanisms that seem to be present such as cellular

transmission malfunction and problems with absorption at both the digestive

level but also at the cellular level.  Again, it is all am matter of degrees,

and medical practice usually has a definite criteria they take years to develop,

but those who have slightly different symptoms may fall through the cracks until

that criteria is adequately updated--just like for decades it was believed that

only those wasting away with digestive problems could be gluten intolerant and

those with immune system or neurological manifestations only could not possibly

be in that

category. Well, the research has pointed in this direction for a while now, and

clinical practice is maybe, just maybe now beginning to acknowledge this but it

all depends what doctor you see and how open they are to new things that have

not yet been approved and mandated by his professional organization.

Mitochindria research is all still very new and very complex and clinical

practice will take its sweet time to respond to this and wait for some " miracle

drug " to stimulate the mitochondria and make it all better etc. before they even

care to discuss it.  But until that happens, shouldn't we see what fits and what

doesn't and work with those medical providers who are willing to stick their

neck out a little and tweak the diet and the supplements to help our children

heal and function as normal as possible?  Now I know this doesn't apply to

everyone, for many just speech therapy and fish oil works just fine, but for

those who see only minimal improvements or none, maybe other approaches would be

warranted and the whole mitochondria disorder paradigm seems to fit.

I guess what I find interesting about it is that for AD patients regular doctors

poo-poo any kind of dietary/supplemental intervention, but for something like

mitochondrial dysfunction --which they generally don't even know much about

since it is all so new, but I'm sure for that they would have no choice but to

acknowledge the use of dietary/supplements to help stabilize and hopefully

improve the patient's condition.  Well, like I said, food for thought.

Elena

From: stehn4@... <stehn4@...>

Subject: Re: [ ] mitochondtrial disorders and

speech--possib...

Date: Monday, July 28, 2008, 11:43 PM

my son has pdd-nos apraxia juvenile diabetes, hypotonia, hearing problems. I

have a friend who mentioned that I should look into it after she heard that

Josh had diabetes. Her daughter use to be a classmate to Josh. Her daughter has

mitochondria also.He also has developmental delays. He did not talk until he was

3.

[Guest guest]

A diagnosis includes muscle biopsy, mri,blood tests, spinal tap. That is why

it is hard to diagnose. I would not do that to Josh if there were any

getting around it. There needs to be a test study done but I do not want Josh to

be

a guinee pig. These tests are very invasive. Since I have discovered

mitochondria our principle and vice principle just say' you got me on this one.

You

may be right, everything points in that direction, it all makes sense. " Josh

is doing much better by the way. I really have his blood sugars under control

now. In the fall we will get him on an insulin pump. He will keep going to a

school with a full time RN who can give him insulin and monitor his blood

sugars and he is still getting about 15 shots a day but his quality of life

will be much improved when he gets the pump because he will not get all those

shots everyday. I have been accepted at Upper Iowa University for the bachelor

in education with a special education endorsement and an endorsement in early

child education. Charlotte Henry

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[Guest guest]

The closest clinic is in Cleveland and that is less than a days drive for me

so I can take him there if I have too. Mitochondria is usually inherited from

the mother I have read. There will be some test studies done on adults in

the future I would think. It is much harder to do test studies on kids. The

Cleveland Clinic has done a lot of research in that area. My friend Nikita is a

physician and she has moved there so she can take her daughter to that

clinic, Her daughter use to go to school with Josh.

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[Guest guest]

I went to a metabolic neuro with both kids. He believes diet was an

integral part of their healing. He has been addressing mito in patients

for 25 years, genetic and acquired, at a Childrens Hospital in a major

city. Still, when I suggested possible mito dysfunction since they are

better but not cured and I need to know if mito cocktail is in order,

why not typical fish oil response, etc. His answer, " No, it is not

here. Mito dysfunction can occur anywhere at any time and it is hard to

find. " What the* & ^% is that? Sounds like the same answer you get when

you ask for celiac testing. I often wonder, is this stuff really rare

or simply rarely recognized by the uncurious and when addressed, by

inadequate testing.

[Guest guest]

For disorder but not dysfunction. Dysfunction is an easier recognition

and fix I thought. As if any of this is easy. Congrats on your success

with your son and your professional life.

[Guest guest]

Liz what you are saying is all very interesting and especially since this is

coming from a neurologist who has been addressing these things for so long. My

only guess is that we're still too far from a more discriminating diagnosis

process and even further from adequate treatments for these things which sure

sound like some other form of mito,---- you know if they talk like mito, walk

like mito, malabsorb like mito and respond to treatment like mito--- well, maybe

they are in fact a form of mito that doesn't yet fit the guidelines and they

need to be researched and the guidelines need to be expanded as with the gluten

intolerant category that most definitely needs to be expanded beyond intestinal

damage.

But I understand that for neurological stuff exclusively, without severe muscle

damage or stunned growth there are no tests sensitive enough to prove anything

definite yet and no real incentive to go there either --more disorders for which

there is " no cure " , and as a rule doctors stick to their clinical diagnosis and

guidelines unless they are actively involved in research themselves.

The fact remains that the treatments seem to be the same anyway right?---various

diets and supplements.  I think clinical practice needs to follow a set of very

rigorous--read artificially imposed and fraught with conflict guidelines and

changes in diagnostic criteria doesn't happen overnight but takes decades and is

usually pushed forward

by the " miracle drug " that comes to the rescue because those are the people

with the most $ and political clout.

So I'm not really surprised doctors are reluctant to expand the mitochondria

disorders field especially with the acquired and environmental toxins being such

a " hot " red alert issue for everyone.  But what really surprises me is the ease

with which some acknowledge that they or their family have a severe Omega 3

vitamin E + other deficiencies and don't ever question WHY? What does this

deficiency really mean and what's different about my kid than the kids who don't

have it?  The " we're all different " answer pediatricians love to give when it

suits them just doesn't cut it here--too much is at stake. Why does my kid need

mega doses of vitamin E and Omega 3 and is not absorbing it and still shows

deficiency even after supplementation?  Or why on earth would that help her

speech?

 Shouldn't we be the least bit curious to understand that so that we could maybe

improve the protocol and get there faster, reach that level of normality in

speech, movement or what ever disorders manifest as a result of these

nutritional deficiencies? Could it be that the nutritional/malabsorption

deficiencies are in fact a symptom of something else? What could that be? Would

addressing that root cause be better? What are the costs and benefits?

Somebody responded to this heated " biomed/alternative interventions " topic by

saying " if it ain't broken, don't fix it "   Well, obviously if on this list, and

when your child is NOT speaking and or /moving, feeling things or behaving

normally and it takes years of intensive speech therapy + other therapies and,

and you're giving the Fish Oil and vitamin E  to be able to see any progress,

---well, it sure seems to me like it's broken alright and refusing to accept

this is denial of reality. 

Yes, Fish Oil and other supplements work, but why? Supplementing is great, it

works and we have to do it, but wouldn't it be better to get to the root of the

problem and maybe you wouldn't have to supplement as much, or maybe you would

supplement with something that would be even better and help the child improve

MUCH faster?  After all nothing exists without a cause and nothing is without

consequences so shouldn't we understand better what all these causes and

consequences are? Is there no room for improvement here?

And sure not everyone will need every test, diet or treatment, that's why you

don't' just do them yourself and you try the very basics first, and take it from

there, that's what biomedical doctors do too, they don't hit you all at once

with every possible treatment for every possible cause, but it's all about

prioritizing based on symptoms and results and keeping an open mind.

 There's another apraxia board where even the mere mention of fish oil or any

other supplements from a newcomer prompts an avalanche of so called " research "

articles that disprove any benefits, calling the proponents of supplementation

of any kind " quacks " and the parents  " desperate and willing to believe

anything " or at best just saying they are anecdotal improvements, affecting

behavior only with no scientific validation etc etc.

Well, not only is all of that not true, but it really pains me to see how many

parents who've just had their child diagnosed  and may be searching for those

first steps are told to not even go there, to completely disregard fish oil and

any other supplements and focus all their time and efforts exclusively on

therapy because that's the only thing that's been clinically proven. 

On this board we know that's not true, and most of us are experimenting with

fish oil at the very least, and we know how the free flow of information can

benefit at least some of us if not everyone.  We all ultimately believe what we

want to believe, and we try what we feel comfortable trying, so this is a board

for sharing ideas and treatments and learning from each other and that's what it

should all be about. I think we're all mature enough to filter things through

our own minds and judge our own situations and see where we should best invest

our efforts.  I love a good debate, and different opinions are valuable, we all

have different ideas and experiences and it's important to know the pros and

cons of everything. We just need to know our options and we only know them if we

learn from others who've gone down that path and have progress to report or

not. 

Don't get me wrong, I value research, but having a research background myself I

know not only that there is a lot of biased research out there but also that not

everything can be researched the same way so I don't feel compelled to wait

years and decades until clinical practice finally tells me my child can benefit

from fish oil and the like. Both the research I've read as well as the anecdotal

evidence on this board and many others are enough for me to make an informed

decision about that and other supplements and not rely exclusively on my doctor

to tell me what to do for my child. In fact my own experiences with the medical

field have taught me to question a lot and only work with doctors who are able

to co-construct a treatment plan with me.  Other treatments and procedures can

also be tricky to measure. Some may be just the thing for my child, others not.

I am mature and responsible and will not jump into anything throwing away

thousands of dollars

that could be put to better use unless I felt that was the best use for that

money to help my child progress. 

And you know, if I later am proven wrong that's OK, too, I can live with that

because I make the best decisions I can given the information I have at the

time.  At this point it really is a lot about trial and error and we can only

make reference to other data here and discuss our own experiences. And I'm so

happy to be able to do that..

Just my thoughts on these issues, and quite frankly I don't really care what any

of these disorders are called, and what medical fields address it, it's all an

" immune/neurological damage " continuum and the causes and mechanisms are

critical to inform appropriate treatment and possibly prevention.  We are

ultimately the ones who are in charge of our children's treatment and we make

the decisions. That's why we need to stay informed.

May we all just keep an open mind and keep learning...

-Elena-- mom to Ziana --age 3.11 --severely apraxic, but otherwise a healthy

happy child who has never needed to see a doctor for being sick, and is now

progressing steadily since appropriate speech therapy/diet/supplements have been

implemented

[Guest guest]

Thanks Liz- Charlotte

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[Guest guest]

Re: But I understand that for neurological stuff exclusively, without

severe muscle damage or stunned growth there are no tests sensitive

enough to prove anything definite yet and no real incentive to go there

either --more disorders for which there is " no cure " , and as a rule

doctors stick to their clinical diagnosis and guidelines unless they

are actively involved in research themselves.

This is what infuriates me. We had stunned growth, in the head no less.

My son lost weight, as did my daughter and neither had any arm strength

whatsoever. My daughter is hypertonix in legs whereas my son had the

legs of an 80 year old. The pediatrician was satisfied it was nothing

as they had eye contact. Hello!

I only care what they are called so there is a common interest, screen

and treatment that can be safely and sufficiently followed.