Pearson's Syndrome ~ Help in countering docs or explaining them

[momofsaa]

My newly diagnosed 1 year old just spent two weeks in the hospital where I feel that the doctors attempted to run me over. My daughter has suffered anemia since birth and has finally reached aplastic anemia. She was diagnosed in last November with Pearson's Syndrome. Until this diagnosis, she had only presented with the bone marrow failure.
Very early December she became quite sick. In spite of her lowered immune system, this is only the third time she has been sick in her life. She started with a fever of 102.3 under the arm. Because she tends to be neutropenic we went to the emergency room. She received her monthly transfusion while they ran many tests. Following that visit she began to present with many other systems. She would appear to improve and then a new one. The significant symptoms were fever, diarrhea, vomiting, and finally a stiff neck. The Monday before Christmas her vomitting had been out of control, she was down to not having diarrhea for lack of fluids, and difficulting swallowing. While there we learned she had an inflammation in her neck. When it was accidently nicked the fluid was tested and I was simply told it was a gram positive cocci infection. Later they told me staph. That was all I could peel out of them.
The diarrhea has continued but I have allowed them to keep her on antibiotics so that could be that cause. She does take probiotics as well. Among many other things she is on Magnesium Oxide, Calcium Carbonate, and K-Phos. At her last blood draw, her Mag and Calcium was good but her Phos was still low. (She only had 2 of her 4 doses of Phosphorus the day before.) I think her ATP is down as well. And they have her on bicarb fluids.
Through all this, they kept throwing her diagnosis in my face instead of looking at the whole picture, she did not have these symptoms prior to diagnosis. My friend who has Ehlers-Danlos has a shirt that says, "When you hear hoofbeats, think Zebras." But I kept thinking, "When you hear hoofbeats, sometimes you need to think Horses." I was very upset that they kept wanting to attribute these problems to Pearson's instead of considering that she may have a perfectly normal GI system and just happens to be very sick.

What I need to know is what besides diarrhea can be preventing her from keeping her Phos up? And besides the antibiotics, what else can be causing the diarrhea? She had it for 2-3 weeks before the meds. If there are other tests I need to ask for, just tell me. (She was tested for C-diff although I don't know what that is.) They generally listen to me about things I want to test for. Any insight would be great.

Finally, if I have posted this under the wrong topic, feel free to move.
Thanks,
Kathryn

[Momtezuma Tuatara]

it's very hard to get a handle on what is going on from the description above. Did you request a copy of the files, so that you can go through it in date order, and check all the test results?


What I need to know is what besides diarrhea can be preventing her from keeping her Phos up? And besides the antibiotics, what else can be causing the diarrhea? What answers did the doctors give you when you asked them those questions? Also, have you asked your ordinary doctor those questions?

http://www.faqs.org/health/topics/97/Phosphorus-imbalance.html

Hypophosphatemia (low blood phosphate) has various causes. Hyperparathyroidism, a condition in which the parathyroid gland produces too much PTH, is one primary cause. Poor kidney function, in which the renal tubules do not adequately reabsorb phosphorus, can result in hypophosphatemia, as can overuse of diuretics (water pills) and antacids containing aluminum hydroxide. Problems involving the intestinal absorption of phosphate, such as chronic diarrhea or adeficiency of Vitamin D (needed by the intestines to properly absorb phosphates) can cause the condition.

Is she vitamin D deficient? It's winter where you are, and that could be a possibility. Did they check her parathyroid gland?

(Ironically, homeopathic phosphorus, is one of the 'remedies' for diarrhoea ~ discovered long before they knew about calcium, magnesium, phosphorus imbalance.)


She had it for 2-3 weeks before the meds. If there are other tests I need to ask for, just tell me. (She was tested for C-diff although I don't know what that is.) Clostridium difficile. Nasty bacteria, normally acquired in hospital because staff don't wash their hands properly, and they pass it around. If you google it, you will find that it's mainly a hospital issue.


They generally listen to me about things I want to test for. Any insight would be great.

Finally, if I have posted this under the wrong topic, feel free to move.
Thanks,
Kathryn

[momofsaa]

Did you request a copy of the files, so that you can go through it in date order, and check all the test results?

I will be requesting her health records. I have copies of most of her test results. During her hospital stay her mag, calcium, and phos were low. I also noted her BUN to be low as well as her AST, I think.
At her appointment Monday, her mag and calcium was fine, phos was low, MCH and MCHC high, BUN was low, Total protein and albumin at the edge of low, and her ALK was high.

Her main dietary intake besides the supplements is breastmilk. How much of what should needs is she possibly lacking from my breastmilk? I was told previous that Vitamin D does not pass through breastmilk and regardless of season, her exposure to the sun must be limited as she is photosensitive.


What answers did the doctors give you when you asked them those questions?
My doctors continually look at Pearson's instead of what it would be for a normal child. I will be seeing my pediatrician, which I hardly ever see, on Tuesday. I will see about addressing some of these issues with her, then. I will be at the hospital on Wednesday for an EEG and a BAER. They are considered preliminary to have a base line to monitor the Pearson's.
I will also be asking all about the parathyroid gland.

Clostridium difficile. Nasty bacteria, normally acquired in hospital because staff don't wash their hands properly, and they pass it around.
I was reading one of your blogs about the hand washing. I don't think I've ever seen a doctor that didn't either come into the room and wash their hands there or use the waterless sanitizer on their way in. At our hospital, there is a sanitizer pump outside of each room and I watch them use it on their way out as well as in for each patient.

One thing that keeps me thinking it's diarrhea related is that all three levels were low, magnesium, calcium, and phosphorus. As you mentioned they tend to be inverse of each other.

She is on constant IV fluid which has bicarb in it. Can you tell me what the bicarb is for?

Finally, the nephrologist signed off on her that her kidney function is fine. The GI doc is still watching and has her on pancreatic enzymes as one of the problems with Pearson's is issues with her pancreas. I felt that these couldn't hurt her so I've gone ahead with them.

[Momtezuma Tuatara]

Pearson's is a mitochondrial disorder, so in one sense, they are "right" in looking at this as part of that progression. Have they sat you down and given you a good progressive description of what Pearson's is, and the implications of that metabolically?

Would you find it useful to buy a large hard backed exercise book (journal) and working from part way in, construct a diary from today onwards, then working backwards put key dates and events with space in between? This is the intellectual version of a "jigsaw puzzle" or sherlocking an issue. Once everything is in date order with as many gaps as possible filled in, a better picture is available for analysis. You may also find it a good record to have later on.


How much of what should needs is she possibly lacking from my breastmilk? I was told previous that Vitamin D does not pass through breastmilk and regardless of season, her exposure to the sun must be limited as she is photosensitive. Then if she's photosensitive, you need to get her tested, because it's likely she is deficient. Then you have to ask them what impact that would have in relation to Pearson's. (they are going to love you by the time you've got to the end of January 2009 :giggle:

I've put one of Cannell's vitamin D papers here as an attachment.

There are two vitamin D tests -- 1,25(OH)D and 25(OH)D.
25(OH)D is the better marker of overall D status. It is this marker that is most strongly associated with overall health.

The correct test is 25(OH)D, also called 25-hydroxyvitamin D


My doctors continually look at Pearson's instead of what it would be for a normal child. Because the metabolic dysfunction created by Pearson's can be very extreme, I can see why that's their primary focus, but they do need to look outside the square. The problem is that doctors never did geometry, and therefore seem to overlook triagles, rectangles and circles :p



I will be seeing my pediatrician, which I hardly ever see, on Tuesday. I will see about addressing some of these issues with her, then. I think she needs to go through Pearson's with you, step by step; what they know and what they don't. send her an email on monday telling her you will be expecting chapter and verse from her the next day. :D


I will be at the hospital on Wednesday for an EEG and a BAER. They are considered preliminary to have a base line to monitor the Pearson's.
I will also be asking all about the parathyroid gland.

I was reading one of your blogs about the hand washing. I don't think I've ever seen a doctor that didn't either come into the room and wash their hands there or use the waterless sanitizer on their way in. At our hospital, there is a sanitizer pump outside of each room and I watch them use it on their way out as well as in for each patient. The problem is that the waterless sanitizer is useless against Clostridium difficile. CD can only be removed with thorough soap and water, and drying with paper towels.


One thing that keeps me thinking it's diarrhea related is that all three levels were low, magnesium, calcium, and phosphorus. As you mentioned they tend to be inverse of each other. Have they done a general test for gut dysbiosis, or other bacteria that can cause a problem? I'd imagine, because her body handles nutrients in such an abnormal way, that that would be the first thing they would do. Not that there would be too much they could do about it. When someone has mitochondria that function badly, drugs can have unexpected effects.


She is on constant IV fluid which has bicarb in it. Can you tell me what the bicarb is for? Because the mitochondrial disorder results in lactic acidosis, and given that bicarbonate is used to reduce acidity, I'm picking that might be one reason why she is on that, but you need to ask them to explain to you exactly how and why that is happening. You need to know the etiology of Pearson's in order to understand where your child is now, what the future might hold, and whether judder bars are Pearson's related or not....


Finally, the nephrologist signed off on her that her kidney function is fine. The GI doc is still watching and has her on pancreatic enzymes as one of the problems with Pearson's is issues with her pancreas. I felt that these couldn't hurt her so I've gone ahead with them. pancreatic enzymes are fine. But again, they need to sit down with you and explain all the why's, and whereto from here.

[Momtezuma Tuatara]

I'm emailing you a couple of pages from a text book.

I'm just wondering if, given that it's a mitochondrial disorder, something quite radical might be considered. But a public forum is not the place to discuss this. If you wish, we have an unseen private support forum, where if people wish to discuss something privately, we transfer the thread there, and change your security so that you can go to that forum. There are only specifical people who have access to that forum.

I have access to the private support forum, as do other admin, mods, and a few others. But what I have to toss around as an idea, I wouldn't discuss publicly. The last thing anyone needs is to be accused of practicing medicine without a licence.

[momofsaa]

I would be happy to have you change this to whatever location you see fits. My concern is to not allow the care of the doctors to interfere with my daughter living the longest life possible.
Let me know what I need to do to follow this along.

For the previous response:
I have maintained an online journal for her at http://livejournal.com/ourbeth. It is lacking as things seemed to be going no where for a long time. I keep a binder with results for nearly all tests run on her. I keep a spreadsheet of results that we primarily focus on. I will begin with a notebook as you suggested and I felt after the hospital visit would be a good idea. I will then transfer the information to the online journal.

The Vitamin D deficiency makes perfect sense to me. I will be requesting that test this week.

I don't really talk to my pediatrician about these things because her knowledge on it is more limited than the hematologist. In fact, for dealing with more detail about Pearson's we've talked to a geneticist/neurologist who knows a great deal about mitochondrial disorders. We also met with Dr. Blanche Alter at the National Institute of Health in December. While in the hospital recently we also talked with a GI doc and a kidney doctor. My pediatrician is more like a pharmacist, I go in and tell her what I need and she helps me get it instead of her being the driving force in the health of my child. It's actually turned into quite a workable situation. I believe it's come to this because we see the hematologist each and every week instead of the her.

Thanks for explaining some of the other items. I should be armed with new questions and test requests when I return this week to the doctors.

Kathryn

[Momtezuma Tuatara]

Maybe we can leave it here, and I can just brainstorm a bit.

I don't quite understand the genetics of the mitochondrial disorder that is Pearsons... is it straight genetic or epigenetic? So I'm puzzled as to exactly how the gene delations impact on the metabolic functions. I've not seen it described anywhere, clear enough for me to understand. Do you have a URL which explains it clearly?

This is something I wrote for another as yet unpublished book:


Vitamin C lies at the very core of our survival. It is not just used to make bones, but is an integral part of many processes in the body. Glucose transporters take vitamin C into cellular mitochondria. Without vitamin C, L-carnitine cannot be metabolized in order to transport long chain fatty acids into the mitochondria, where they are burned for energy. Without vitamin C, carnitine levels in the body are severely depleted leaving mitochondria unable to perform crucial functions in the body to the maximum extent, which is why one of the symptoms of vitamin C deficiency is lack of energy, and fatigue. Vitamin C underpins crucial processes like collagen formation ensuring that all cell walls are strong. Vitamin C is crucial for neuro-transmitter biosynthesis, chemical chemotaxis and a vast number of other metabolic functions. Crucially, for babies, the inate immune system is dependent on vitamin C, for without that, the neutrophils, lymphocytes, and phagocytes which process toxins in the body come to a halt. Every major biochemical and immunological function in the body of the baby has at its core the effective transport of vitamin C through the body via either sodium or glucose transporters. When this is understood, it is easy to see why, and how, vitamin C deficiency, and even acute or repeated infection, was so destructive in previous decades, and still can be potentially fatal today.


Please have a look at page 9 in this pdf:

http://biochemgen.ucsd.edu/mmdc/ep-3-10.pdf (http://biochemgen.ucsd.edu/mmdc/ep-3-10.pdf)


Now that's quite a good list except for one thing. 25 mg of vitamin C per kg of body weight is not high enough to service all the body's need for vitamin C in a situation where anti-oxidation is highly stressed AND free radicals are everywhere AND where the millions of mitochondria throughout her body rely on vitamin C in order to pull in the L-Carnitine, in order to pull in the long chain fatty acids to burn, to make the energy that she needs, not just to live, but also for her body to function.

Overall though, that's not a bad plan, though i'd be considering increasing the alpha lipoic acid too, but see a later pdf on that.

I would take it with you and ask their opinion about it, but if you institute the plan laid out there, I believe you need to reconsider the vitamin C dosage, because from everything I know from Professor Clemetson's three volume textbook of vitamin C, I believe that dosage is wrong. it's too low.

Here are some other URLs you might like to read:

http://www.ccjm.org/pdffiles/COHEN701.PDF (http://www.ccjm.org/pdffiles/COHEN701.PDF)


http://www.umdf.org/atf/cf/%7B28038C4C-02EE-4AD0-9DB5-D23E9D9F4D45%7D/MITOCYTO.PDF (http://www.umdf.org/atf/cf/%7B28038C4C-02EE-4AD0-9DB5-D23E9D9F4D45%7D/MITOCYTO.PDF)


Here is a url http://jn.nutrition.org/cgi/reprint/135/6/1510 (http://jn.nutrition.org/cgi/reprint/135/6/1510)
which anyone with cancer also needs to think about in terms of mitochondria and vitamin C.

Here is a URL all those who have trouble losing weight, need to consider in relation to vitamin C/carnitine/mitochondria. You can't burn that fat in mitochondria, if you don't have enough vitamin C to pull in the carnitine... it's pretty simple. To me, anyway :giggle: :
http://www.nutritionandmetabolism.com/content/pdf/1743-7075-3-35.pdf (http://www.nutritionandmetabolism.com/content/pdf/1743-7075-3-35.pdf)



So let's revise that again, but add some more details:


Long chain fats are metabolised by the mitochondria within the cell.


Carnitine is essential to this process, because fat by itself cannot penetrate the membrane of the mitochondria.


Each molecule of fat has to be transported across the mitochondrial membrane by binding with a molecule of carnitine.


But carnitine can't be pulled into the mitochondria, without vitamin C, as seen this this medical article: http://www.nutritionj.com/content/2/1/7 (http://www.nutritionj.com/content/2/1/7)

Here is something about Alpha Lipoic Acid: http://www.nutritionj.com/content/2/1/7 (http://www.nutritionj.com/content/2/1/7) Granted, this study was done in rats, and might not apply to humans, but it's in the above medical article, so they've factorred the theory in, and given the prognosis for Pearson's, I'm not sure I'd be quibbling about waiting around for studies like this to be replicated in humans, and prove it of use in Pearson's.

You might want to discuss all this with them, fully. Hopefully they know it. If they don't, you can educate them. :D

To continue boring explanations: After the fat has been metabolised in the mitochondria, and generated the energy rich ATP, the carnitine is again required to transport the waste product out of the mitochondria as an acyl-carnitine.



Boring history:


Carnitine was first identified in 1905, although its metabolic role only began to be understood in the 1950s.


Chemically, carnitine is a quatery amine (the same chemical family that includes choline); its full chemical name is (R)-3-carboxy-2-hydroxy-N,N,N-tri-methyl-1-propanaminium hydroxide. Carnitine come in two forms (stereo-isomers), L-carnitine and D-carnitine. Stereo-isomers have exactly the same chemical formula and structure, except that the molecules of one form are a mirror image of the other. It is only L-carnitine which is the active chemical in the metabolic process, whereas D-carnitine has no effect.


Carnitine is rapidly excreted from the body - its half life is estimated at 17 hours.


This means that carnitine must be replaced continuously. In the normal human, approximately 75% of the carnitine is obtained directly as a protein in food and the remaining 25% is synthesised by the body from other proteins in food.


The dietary sources richest in carnitine are red meats, particularly lamb and beef. Dairy products contain some carnitine but, with the exception of avocados, vegetables and fruit contain little or no carnitine.


The dietary intake of carnitine for optimal health is unknown. An unpublished analysis of hospitalised patients in the US showed dietary intake of between 2 milligrams and 300 milligrams daily while on hospital diet.

[cartersmom]

My newly diagnosed 1 year old just spent two weeks in the hospital where I feel that the doctors attempted to run me over. My daughter has suffered anemia since birth and has finally reached aplastic anemia. She was diagnosed in last November with Pearson's Syndrome. Until this diagnosis, she had only presented with the bone marrow failure.
Very early December she became quite sick. In spite of her lowered immune system, this is only the third time she has been sick in her life. She started with a fever of 102.3 under the arm. Because she tends to be neutropenic we went to the emergency room. She received her monthly transfusion while they ran many tests. Following that visit she began to present with many other systems. She would appear to improve and then a new one. The significant symptoms were fever, diarrhea, vomiting, and finally a stiff neck. The Monday before Christmas her vomitting had been out of control, she was down to not having diarrhea for lack of fluids, and difficulting swallowing. While there we learned she had an inflammation in her neck. When it was accidently nicked the fluid was tested and I was simply told it was a gram positive cocci infection. Later they told me staph. That was all I could peel out of them.
The diarrhea has continued but I have allowed them to keep her on antibiotics so that could be that cause. She does take probiotics as well. Among many other things she is on Magnesium Oxide, Calcium Carbonate, and K-Phos. At her last blood draw, her Mag and Calcium was good but her Phos was still low. (She only had 2 of her 4 doses of Phosphorus the day before.) I think her ATP is down as well. And they have her on bicarb fluids.
Through all this, they kept throwing her diagnosis in my face instead of looking at the whole picture, she did not have these symptoms prior to diagnosis. My friend who has Ehlers-Danlos has a shirt that says, "When you hear hoofbeats, think Zebras." But I kept thinking, "When you hear hoofbeats, sometimes you need to think Horses." I was very upset that they kept wanting to attribute these problems to Pearson's instead of considering that she may have a perfectly normal GI system and just happens to be very sick.

What I need to know is what besides diarrhea can be preventing her from keeping her Phos up? And besides the antibiotics, what else can be causing the diarrhea? She had it for 2-3 weeks before the meds. If there are other tests I need to ask for, just tell me. (She was tested for C-diff although I don't know what that is.) They generally listen to me about things I want to test for. Any insight would be great.

Finally, if I have posted this under the wrong topic, feel free to move.
Thanks,
Kathryn


Obviously I can be of no help here I just wanted to say how sorry I am you are all going through this. I hope you can figure it out and your daughter will be feeling better very soon.

[Trogdor]

On a quick note...the abx and probiotics are counter acting each other...canceling each other out.
Hilary may be able to tell you if it's worth continuing the probiotics while still on abx. (while dealing with this condition)

[momofsaa]

is it straight genetic or epigenetic?
I'm not sure if my answer is anything that you don't already know but I'll explain it as it was explained to me. Mitochondria comes directly from the mother. But we suspect hers is de novo. As the cells divide some of them have normal mitochondria and some have this deletion. This is why they believe the anemia is self-resolving because the cells with good mitochondria begin to duplicate more and replace the defective ones. This is also why I'm told that if I'm tested and it's something that's not symptomatic then we're not likely to see defective cells. On the otherhand, with a deletion of her size, it's unlikely that I would have it without being symptomatic. Beth's deletion is the largest consisting of 4977 bp's.

It appears that a lot of what I just explained up there is in the first link that you sent me. The diagrams are very helpful. I need to get that book so I can start taking some notes before my appointments this week. I will have to spend a great deal of time on that article as it seems to have more information that I've found in the past.

I was already working with the Vitamin C for both her and myself after our previous conversations. I did walk away with a great appreciation for the strength of Vitamin C.

As always, I'm greatly appreciative of the information that you provide. This recent response giving me a great deal reading to do today.

Thanks,
Kathryn

[momofsaa]

On a quick note...the abx and probiotics are counter acting each other...canceling each other out.
Hilary may be able to tell you if it's worth continuing the probiotics while still on abx. (while dealing with this condition)

Is that accurate when she's receiving them via IV as well? Also, I thought once the abx had been absorbed then it would work fine. I don't give them at the same time. That's actually the difficulty with her meds is trying to time the administration just right. Her Phos and Calcium must be at least an hour apart and such things. Some things have to follow others or she'll throw the whole mess up. And then you throw in a nap and the timing is all wonky.

[Trogdor]

I apologize...I was hurrying to church and thought you were giving the abx and the probx at the same time...and those obviously will contradict each other.

Sounds like you are doing a great job...didn't mean to add to your stress level.

[Momtezuma Tuatara]

Thank you for the explanation, but in a sense, I'm still struggling with it.

All those URLs above, I've given you,... because in order to counter what they say, you need to know what they think.

But I'm not convinced with a lot of their explanations in them. Here's why.

They list a lot of diseases and disorders as "mitochondrially" driven.

Their whole focus therefore is that gene deletions are all that matter. they don't take into account, epigenesis.

However, one lie to the thinking that genes are everything, is that they admit that people with the same gene deletions might have different disorders, and people with different deletions, might have the same disorders.

The other lie to that assumption is that many people with supposed mitochondrial deletions have completely reversed their conditions or vastly improved it, by stopping eating rubbish. (Hannah Poling's improvement came after considerable nutritional "support". I'd venture to say that perhaps her parents discovered that a SAD diet was "epigenetic" in influence on Hannah's mitochondrial instability).

Also, we know that many conditions attributed to "spontaneous" gene defects are nutritional in origin.

I'm not saying that your daughter's is. I mention this, because if the gene deletion is nutritionally related it can be nutritionally reversed.

To illustrate this, let me give you two examples.

The first is myself. I have an immunodeficiency, which is supposedly "autosomal recessive". Which means that although my parents didn't have the actual genes, somewhere back in my family's past, they say someone did. (they actually used haemophilia as an example, where it can skip a generation....)

However, after discovering that "dysgammaglobulinaemia Janeway Type B "was "behind" my regular interviews with infections, (roughly every six weeks), AND that the medical profession could do nothing about it, I completely revamped my diet, supplements, and my life, paying particular attention to the basics.

My doctor starts noticing my very sad (to him perhaps) lack of contributions to his mortgage repayments, and now, my contribution is virtually nothing.

When I do have the tests done now, to see what my immunodeficiency is doing, the levels are exactly the same as their abnormally "normal" levels have always been. In otherwords, according to their thinking, nothing has changed from the day that they first told me the "implications" of my immunodeficienty. That it doesn't affect me as much now, for some reasons, doesn't interest them at all :rolleyes: .

I therefore believe that "autosomal recessive" as a term, is an excuse for what is in my case, actually an "epigenetic" disease, which is where what I eat, what I do etc, can switch on, or off how key genes in one part of my immune system work.

Here is an example of epigenetics in action. I've attached another paper for you, which shows that Vitamin D has an "epigenetic" effect on whether or not an antibacterial compound called "cathelicidin" works in the body. It switches on the genes so to speak.

Vitamin D is also a determinant for respiratory infections (http://www.ajcn.org/cgi/content/full/86/3/714) and it does that again, by an epigenetic effect.

Okay, the second exampleof where a supposed genetic disorder can be changed comes from a magazine article I read, but like a fool never kept. At the time the word "epigenetics" had not been coined. This mother lived, I think... in Australia... and had a baby born with minimal down's syndrome. Her daughter always had that "look" about her, where you instantly recognise Downs in the face. At the age of 8, this girl got quite sick.

In order to help her daughter out, her mother radically changed their life and their diet, and included in that, glyconutrients, even though everyone told her they were useless and money down a black hole. Over two years, the photos they took of their daughter, showed marked facial alterations and now, you wouldn't know from looking at this teenager, that she had Down's Syndrome. People who look at her early photos, and the ones now, don't believe it's the same child. What changed? These genes they said were fixedly deranged?

In the document with the "look at page 9" comment above , they listed under mitochondrial disorders, SIDS/ carnitine. I don't believe that. History proves that you can be perfectly normal, but if you don't have any vitamin C, your carnitine is going nowhere, least of all into mitochondria. That is after all, one of the fatal bases with regard to scurvy, or lack of vitamin C. When you run out, your mitochondria will no longer work, you will get infection, and you peg it. Period.

You will see that as you progress through the other medical URLs I've put above with regard to the explanations of vitamin C, carnitine and mitochondria....

Similarly, the elderly sometimes don't get enough vitamin C. The elderly supposedly have a much lesser ability to use carnitine. The elderly, supposedly have a two-fold reduction in their "ability" to absorb vitamin D. (http://www.jci.org/articles/view/112134) Okay, I admit, that "Rust" will get us all one day... BUT I don't believe that the problems of the elderly, are all in their genes, which are supposedly falling apart. I believe that the problems of the elderly are epigenetic. You are what you eat, and how you live.

Barring being smacked into 1,000 pieces by a "car" (or whatever) driven by some other lunatic.

After all, if the elderly in Tamysh had an average age of 120 (reduced because of their propensity to get into fights with one another, or go hunting on scree at the age of 130+...) :rolleyes: and many lived past 150, there is no reason why we can't. Medical people just roll their eyes, and say, "They had good genes". Oh really? What suddenly made their descendants genes go bad then?

When you study the Tamysh people it's a clear as daylight why they lived for so long. The reason they lived for so long, was that their mineral intake was very high, and their nutrition was based on kefir/yoghurt, vegetables, fruit, nuts, seeds, garlic, some spices, minimal meat and conscious intake restriction/weight control. Men at 120, were still riding 16 hand high, stoppy stallions.

These day, most men in this country, stop doing that in their 60's at the latest, and think they have done well.

Much of what is attributed to genes has less to do with genes, than it has to do with how well we run this car we call our body; how we feed and water it, which oil we use, how we clean and maintain it. The "warranty" we have requires certain things, and when we deviate from the warranty conditions we can pay a price.

Gene function can have everything to do with something that happens at a certain point, to switch on, or off those genes. That can be an unavoidable toxin: e.g. radiation fall-out, agrichemical sprays, toxic fumes, or it can be as simple as what we chose NOT to eat.

Obviously your daughter has some good genes or she wouldn't be alive. The question is, can something be done to increase the numbers of the correctly functioning mitochondria, and stop the defects occuring in the copying of them?

It's an :alien: concept to most doctors, but one of the reasons I'm saying this, is to give you real hope founded on what we know about epigenetics.

Udo Erasmus proved to doctors that what his son had, was not immediately fatal. He did that by proving to them that their "brains" and "intellect" were not everything in that equation.

I hope it could be that like his situation; that you might find just the "right" combination for your daughter, to help repair the genetic connections, and as her cells divide, for her to have fewer mitochondria which are abnormal. You might find ways in which you can switch back on the genes in the ones that are wrong. After all, if the genes suddenly don't work, where do they go? Into thin air? I don't think so.

I suspect, but cannot prove, that mitochondrial disorders CAN be epigenetic. I could also be wrong.

It could also be that the weakness may always be there, but what we do, can possible be the key, like with my immunodeficiency. If that is so, then the trick, like Udo Erasmus, is working out what it is that keeps the genes copying and working correctly.

So in my case, I don't accept that my immunodeficiency is de novo, or autosomal recessive. So long as I do the right things, it's still there, but inactive. The potential for it to kill me is still there. I do not have the immunoglobins every month that I'm supposed to have, to keep me alive, and I never have had them in the 20 years since I was diagnosed. I'm too scared to for a start :D. With a drug history like mine, it would be sure to kill me, and I'm doing okay without it. So, if that comes home to bite me on the backside sometime, so be it.

But I'm always optimistic that something can be done to make things work better. In my case, I have to face the fact that if I eat grains, sugar and crap food even to a tiny degree that others do and don't pay for..., I will get sick because of my choices, because those things will switch on a whole array of gene functions which stop my immune system working properly.

It could be that I'm wrong with regard to your daughter. But I look at it this way.

If you decide not to accept that her mitochondrial function is fixed on a downward spiral, and that you can do something about that, and try everything possible, and it turns out I'm wrong, what have you lost?

Nothing that you wouldn't have lost anyway.

BUT if the epigenetic theory is correct, and in thinking outside the square, your daughter benefits, then you've gained a lot more. After all, as they admit in their medical articles I've given you, there is far more they don't know about mitochondrial disorders, than what they do know.

The way I see it, refusing to accept what they say, as being embedded in concrete, is a win/win situation for you.

By the way, the URL to your journal doesn't work for me.

[Momtezuma Tuatara]

Is that accurate when she's receiving them via IV as well? Also, I thought once the abx had been absorbed then it would work fine. I don't give them at the same time. That's actually the difficulty with her meds is trying to time the administration just right. Her Phos and Calcium must be at least an hour apart and such things. Some things have to follow others or she'll throw the whole mess up. And then you throw in a nap and the timing is all wonky.

Like the old William Shatner star trek theme used to "say", you are sailing into uncharted waters. You just do what you have to do, and then keep on thinking outside the square.

You're doing a fantastic job.

[momofsaa]

didn't mean to add to your stress level.
I don't fault anyone who is trying to help me. It's always appreciated. In fact, I'm the kind of person that tends to point out the obvious because it's the obvious that tends to be overlooked.
And honestly, I have thought about that for a second.

[momofsaa]

Obviously your daughter has some good genes or she wouldn't be alive. The question is, can something be done to increase the numbers of the correctly functioning mitochondria, and stop the defects occuring in the copying of them?

I hope it could be that like his situation; that you might find just the "right" combination for your daughter, to help repair the genetic connections, and as her cells divide, for her to have fewer mitochondria which are abnormal. You might find ways in which you can switch back on the genes in the ones that are wrong. After all, if the genes suddenly don't work, where do they go? Into thin air? I don't think so.

If you decide not to accept that her mitochondrial function is fixed on a downward spiral, and that you can do something about that, and try everything possible, and it turns out I'm wrong, what have you lost?

Nothing that you wouldn't have lost anyway.

BUT if the epigenetic theory is correct, and in thinking outside the square, your daughter benefits, then you've gained a lot more. After all, as they admit in their medical articles I've given you, there is far more they don't know about mitochondrial disorders, than what they do know.

The way I see it, refusing to accept what they say, as being embedded in concrete, is a win/win situation for you.

By the way, the URL to your journal doesn't work for me.

It was hard to decide which pieces to quote on but what you've done with your words above is to give my thoughts and ideas more strength and in a sense made sense out of things that I'd lost.

If her blood disorder is expected to self-evolve AND if this mitochondrial deletion does not affect all her cells THEN why would we see anything but perfect sense in what you said? It was explained to me that the cells that cause the bone marrow failure eventually give way to the cells that don't have the deletion. So, it would seem to me to make sense that proper nutrition would be the key to helping this process along.

From the time that I first began corresponding with you I've felt that there was a connection that I was supposed to make here. So, much of what you said fit for me but you were primarily in the vaccines board and what I needed was not about vaccines. I admittedly have teetered on the vaxing fence but with Beth, since her diagnosis, there has been hardly a teeter, it was clear that it was out.

I'm 100% with you on the epigenetics. It makes perfect sense to me and I've thought things similar for many years. And my thoughts are this, if we are wrong in our thoughts and she continues to go on the "downward spiral" as you say, I think we're at least likely to slow it a bit and reduce the pain and trauma from it.

I've spent the last week facing my daughter's mortality. I avoided the information in your e-mail after going over it a couple of times because it was making me face her mortality. I've now faced and chosen to try to postpone it as much as I can.

I appreciate so much of what I've already learned from you and know that I will continue to look to you for the knowledge and resources that I know you have to share.

Thank you so much already.

[Momtezuma Tuatara]

Hey Kathryn. You know, don't you, that the best way to help a child is to face all possibilities face on. I had a feeling you had run away from the screen shots and that's okay. We all do it sometime.

But if that's the bottom line, than that solidifies our actions, because we know we have one chance at this.

The medical profession have only paliative care to offer. If they are right, then nothing you do will matter, but at least you have faced the full details straight in the eye, and done your very best. You can't do your very best, not accepting what the possible finishing tapes might be.

BUT... if the epigenetics is right, and you follow your instincts on this, then you might prove them wrong. In doing that, you will have had the satisfaction in knowing that not only did you do your very best, but that you thought it out to the enth degree.

I'm not actually here to "teach" you anything, because as you've said, you knew it anyway. All I'm here for, is a punching bag, or a ping pong table, so that you define what your convictions are and why, and in that process, teach yourself both the learning and resilience skills to be the very best mother a child can have, ....

And isn't that what we all want to do?

In this equation, and with your daughter's prognosis, what the doctor's think doesn't actually matter that much, does it?

What they think about my immunodeficiency doesn't even come into my decision making process either.

:hug:

[momofsaa]

Hey Kathryn. You know, don't you, that the best way to help a child is to face all possibilities face on.

This statement about sums up your entire message. I read this in the middle of the night and I was near tears. It was like finally accepting that which you are trying to pretend doesn't exist but only because it finally comes with hope. That little smilie hug at the end did not do justice to the hug I felt.

Unfortunately, this kicked of quite a day for us. I failed to arm myself appropriately for the day. I was off to a planned BAER and EEG. In preparation Tuesday night I called to discuss that she would be due for a platelet transfusion and should we do this before the procedure. No, no no all was good no problem. WELL....procedures canceled. I'm sure you don't have to ask why.

We went to the office first and were told that we'd go for our procedure in the surgical area and then go upstairs to receive platelets and red blood. Got to the hospital procedure canceled, went upstairs for the transfusions they drew some blood, I take a nap, then at 6 pm they come in to tell me that no, we're not going home after the transfusion as planned. (around midnight.) Her lactic acid was high and we needed to wait for the kidney doctor. Of course, after two weeks of the hospital followed by being home for only two weeks, I was devastated. I took pause and then came out with my gloves on. I informed them that I could not stay and needed to leave. After a great deal of discussion between the Nurse Practitioner on duty and the doctor in the office, combined with the NP calling the kidney doctor who again, signed off on it not being associated with the kidney, we were told yes, we could go home.

A lot of what was done and said didn't make sense to me. The first thing that didn't make sense to me was we were told we needed to have her cortisol levels tested. The endocrinologist told us when we were in the hospital not to test them until after she was no longer on hydrocortisone. Well, guess what she's still on? Well, I forgot to have it drawn I was so glad to be out of there and it was 1:30 in the morning.

After discussing that the Augmentin was causing vomitting and continuing the diarrhea the doctor switched her to twice a day but larger doses. How does that make sense? Well, as I mentioned in a previous post, I had no intention on continuing it and have not even at the changed dose.

Now, I'm just going to enter information from my notes with commentary as needed.
Tests run:
Vitamin D (the one you suggested, Hilary.)
Pyruvate
Lactic Acid

They didn't draw enough for the pyruvate the first time and had to redraw so we didn't have those results and it was too soon for the Vitamin D results. When I call tomorrow, I'll check on that.

H&H 7.5 and 21.2 low
Platelets 20 low
Magnesium 1.6 good
Phosporus 2.5 low (only three doses of phos the day before and none the day before that.)
Calcium 9.0 good

Other levels that read low or high:
MCH 27.8 high
MCH? 35.4 high
BUN .4 low
Total protein 5.2 low
Alburin 3.0 low
ALK 441 high
Bilirubin .01 low

I was told most of these don't mean much but I thought if they were off they were worth sharing.

The kidney doctor said her bicarb dose was considered high and she would not increase. We are to follow up with the GI about metabolic issues.

She received 115 cc platelets and 120 cc red blood.

The questions I have in my notes to ask are:
What else causes increased lactic acid?
What is the prognosis for acidosis? And what are the treatments?
In my reading, I found that there should be a specialized muscle biopsy. I addressed this with the doctor and gave her copies of the screen prints and the paperwork from the book addressing primary care physicians. I explained it was in the reading and we could talk about the reading next time. (I think I gave my doctor homework.)
I inquired about Beth's teeth. They are getting brown spots which started while we were in the hospital. The doctor simply said that it's more likely they are caused by the illness than by any of her meds.

That about wraps up my notes from today. Any and all input is appreciated as always. It's past 4 am and I'm going to sleep now.

[Momtezuma Tuatara]

Only two things. Re the antibiotics, I wouldn't give them either.

Re the brown spots on teeth, are they decay, or a mottling colour. Antibiotics long term can cause brown spots. But becasue she isn't processing minerals well, it could be that her tooth structure isn't good.

:bighug:

I'm off to bed too :D

[bbrandonsmom]

Just a big :hug: from us. This has got to be tough on your whole family.

[momofsaa]

http://ourbeth.livejournal.com is the corrected link.

[momofsaa]

I own my own bookkeeping business but because of Beth's health I have a contractor taking care of my client. This client is big into essential oils etc. My contractor is my best friend. She talked to the client about our near miss at a hospital stay. The client immediately took out her book and looked it up. It indicated that antibiotics could be the root of the lactic acidosis. I looked for more information on this and found this article: http://www.ionizers.org/acidosis.html
I'm curious the science behind it. I'm guessing that it has to do with the antibiotics and it's creation of yeast. Is this making sense?

I thought about starting a new thread for this. I have little experience with message boards so let me know.

[Momtezuma Tuatara]

I own my own bookkeeping business but because of Beth's health I have a contractor taking care of my client. This client is big into essential oils etc. My contractor is my best friend. She talked to the client about our near miss at a hospital stay. The client immediately took out her book and looked it up. It indicated that antibiotics could be the root of the lactic acidosis. I looked for more information on this and found this article: http://www.ionizers.org/acidosis.html
I'm curious the science behind it. I'm guessing that it has to do with the antibiotics and it's creation of yeast. Is this making sense?Not really. the article says:

The wastes produced from food are highly acidic and acidosis is one of the main contributors that lead to the aging process and various illnesses.......

and


Mild acidosis can cause such problems as:

Cardiovascular damage, including the constriction of blood vessels and the reduction of oxygen.
Weight gain, obesity and diabetes.
Bladder and kidney conditions, including kidney stones.
Immune deficiency.
Acceleration of free radical damage, possibly contributing to cancerous mutations.
Premature aging.
Osteoporosis; weak, brittle bones, hip fractures and bone spurs.
Joint pain, aching muscles and lactic acid buildup.
Low energy and chronic fatigue.
The fact is that many people who don't take antibiotics have a diet that leaves such a high acid ash residual, that they have acidosis all on their own abilities...

You are in the end, what you eat...

while antibiotics might cause acidosis, I don't think that's the major foundation stone here.

I think that her body pathways, being mangled, are tinkering with the two minerals which create alkaline conditions. Just we we put dolomite on the garden to make it less acid, if something alters how our bodies create their own alkaline conditions, we get acidosis.

JMO

[momofsaa]

I think that her body pathways, being mangled, are tinkering with the two minerals which create alkaline conditions.

Which are?

[Momtezuma Tuatara]

magnesium and calcium...

the acidosis caused by the whole process is ripping the minerals out.. which is why they are trying to restore the acid/alkaline balance. That's why the mineral levels can go all over the place.

There is a thread here (http://forums.beyondvaccination.com/showthread.php?p=3268#post3268) which might help...

[momofsaa]

Many things have transpired since we've let this thread drop.
We received her Vitamin D results. With 20 at the low end of normal her results say she has less than 4. Good call and thanks.

Her electrolytes are back to normal without supplementation but I've picked it up again because I understand that the calcium and magnesium will help her lactic acid.

Her lactic acid is still high but lower than before.

We've sought early intervention for her developmentally.
A team is being assembled for her care to include a dietitian.

I've been educating her doctor with new reading material each week and we are in agreement the nutrition is her key to survival.

One of my thoughts is they are pushing her to gain weight by increasing her calories. Can anyone explain how empty calories are good for her besides to make her fat?

[Momtezuma Tuatara]

Many things have transpired since we've let this thread drop.
We received her Vitamin D results. With 20 at the low end of normal her results say she has less than 4. Good call and thanks.

Her electrolytes are back to normal without supplementation but I've picked it up again because I understand that the calcium and magnesium will help her lactic acid.

Her lactic acid is still high but lower than before.

We've sought early intervention for her developmentally.
A team is being assembled for her care to include a dietitian.

I've been educating her doctor with new reading material each week and we are in agreement the nutrition is her key to survival.sounds good.

One of my thoughts is they are pushing her to gain weight by increasing her calories. Can anyone explain how empty calories are good for her besides to make her fat? No. Can they? If not, why are they doing it? :giggle:

[momofsaa]

I've had doctors push calories before and I tend to ignore them. These thoughts come from the hematologist. I'll wait and talk to her GI dr about them later. He seemed fine with where her weight is.

[momofsaa]

We've been to the GI doc again and he ordered tests for Vit A, D, and E. We'll get to see how she is doing with these. He also ordered a 72 hour stool collection to check her pancreatic function. After nearly gaining all of her weight she dropped half a kilo. Since restarting the pancreatic enzyme she has started to regain.
She has been on a chelation medication that is taken orally. I'm opting to have them switch to the IV one. In spite of it's greater risks, I feel that her current medication is working against the rest of her system by taking up valuable ingestion space and energy. I think this is the better way until she has developmentally reached the age were she is drinking reliably from a cup. Currently she's about a 7-8 month old developmentally, although she seems to be developing intellectually much faster. The upside is she will likely only need the chelation for another 2 years as her blood lines expect to self resolve.