"Panic" To Stop the Down Syndrome?

When a family finds out their child has Down syndrome, they want to be able to find out what they can do for their child. Some of those families look into supplements and drugs to help their baby, which I think is great.

But, there are some who feel that families who start their baby on supplements so quickly (at a young age - just weeks to months old), are in a "panic" about the Down Syndrome and feel the need to "do something" to stop it.

For some families this might be the case, but more often then not, the families I have talked to are not in a panic about what they can do. They simply want to do what is best for their baby and give their baby what they feel is the best chance to do well. For some families, this means starting their baby on a variety of supplements and possibly drugs as early as possible.

We did not find out about any sort of supplemental/nutritional intervention for O until he was 8 months old. Had we found out about it when he was younger, we could've looked like we were in a "panic," because we would have started Nutrivene-D when he was just days old.

But, it's not because we want to stop the Down syndrome. It's because we want to do what we feel is best for O. And I believe that's where most families are coming from.

The earlier you can start supplementation to combat the negative effects of the extra chromosome, the better. The more time that goes on without intervention to combat the harmful aspects of Trisomy 21, the more damage that is done. You cannot fully stop the oxidative stress, mental retardation, or neurological concerns with just supplementation, but you can slow them down a lot.

I fully support and encourage parents who want to start supplementation as early as they feel is safe. For some parents that may be from day 1 and for others, that may be at a year old. For some, it may be a long list of supplements, and for others it may be a more conservative list, which slowly gets longer as the child gets older.

The biggest concern here is to make sure you, as parents or caregivers, are fully researched and convinced, in your own mind, regarding any supplement or drug you give your child.

There are things to be cautious of, especially for a young baby. You don't want to overload their system, particularly their gut, especially if they have GI concerns. But that's where researching what you are going to supplement with comes in. If you are well researched, have talked to others who are knowledgeable, you are on the right track.

I would not want to discourage someone by saying they are in a "panic" about the Down syndrome. In a sense, there is a race against time which is very real and this is why I think it's very important for supplementation to be started at an early age.



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Helping Sinus Infections

Sinus infections are another common problem present in the cold, winter months. On the post I did last week on Boosting the Immune System, Ellen, asked if I had any tips to share for dealing with sinus infections.

We would use some of the same supplements to boost the immune system (for more dosing details see the link above):

-Echinacea
-Vitamin C
-Vitamin A
-Vitamin D
-Vitamin E
-Zinc
-Glutathione

But, there are also a few additional things we would do.

-Glutathione Nasal Spray
This is quite easy to make and works wonders for sinus problems. Buy a regular Nasal Saline bottle and add Glutathione to it. We use a liquid GSH called LipoCeutical Glutathione. You can use powdered GSH out of a capsule if you want as well.

For 2/3 cup of saline you would put 150mg of Glutathione (either liquid or opened capsules) and 1/4 teaspoon Xylitol (optional).

Spray this up the nose as often as you would like! It really helps clear the airways quickly and helps make the sinus infection go away.

Another product that can be helpful is Sambucol. We haven't used it, but I know of many others who have used it with great success. Sambucol is a black elderberry extract supplement. They have various formulas - for kids, general immune support, colds, etc.

You may also do daily sinus irrigation to help keep the congestion clear and prevent colds. I know one mom who's ENT recommended this for her son who was regularly having sinus infections and having to go on antibiotics. This one mom, Kelley, found several different sinus irrigation kits for kids, but found one that works very well and gently. It's called SinuCleanse Kids Mist.

Hopefully this will help keep your kiddos free of sinus infections, or at least clear them up before having to go on antibiotics!



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Using Evening Primrose Oil, Is it Good or Bad?

Evening Primrose Oil is commonly used as a vegetarian source for essential fatty acids (EFAs): omega 3's, omega 6's, gamma linoleic acid (GLA) & linoleic acid (LA). This used to be commonly be recommended by those in the supplementation world of DS, but then after more current research, the recommendation was reversed.

Dr. Leichtman used to recommend the use of EPO as well (as his website states, but that is out of date), but presently does not recommend it.

When we first started supplementing with TNI, Omega 3's, etc, I remember all the talk of how people used to use EPO and switched to another source. Recently I've been seeing a lot of families starting to use EPO again and it's raised questions and concerns in my mind. Because I recall there being a concern back in the day, but I couldn't remember the exact reason for why.

Well, because my research side of me wants to be informed, I looked up the use of EPO again.

It is true that there are benefits that EPO can give. Andi over at Down Syndrome: A Day to Day Guide shares some good info on her blog here. Since Andi has all the good info on EPO on her blog, I won't explain it all here :).

But, there are also risks involved with giving EPO. Omega 6's are essential fatty acids, but they must be given in moderation, as they can increase oxidative stress.

The two main fatty acids EPO converts to is GLA & LA. Both of these, but particularly, LA have been shown to induce oxidative stress & damage, as well as programmed cell death (apoptosis). While, certain amounts of LA and GLA can have some antioxidant states, they more commonly increase oxidative stress.

There is so much extra oxidative stress in people with Down syndrome due to the overexpressed genes on the 3rd chromosome. In DS, there is not enough antioxidants to battle this already highly oxidant state.

I am hesitant to supplement with a product that is known to increase oxidative stress, however mild it may be. While EPO isn't a very high pro-oxidant vegetable origin of omega 3's, it does still encourage a pro-oxidant state.

While there are no studies, as usual, on EPO in people with DS, you can see a couple studies here and here.

One quote from the discussion of the second study is below,

The possibility arose by in vitro experiments that a high intake of LA would increase oxidative stress in the body is supported by the results of our strictly controlled human experiment... ...although the intake of antioxidants and plasma levels of a-tocopherol of our subjects were well above recommendations.

Flax seeds that are freshly ground are a much better source of vegetarian omega-3's & 6's, but it is harder to quantify. EPO may be okay to give, if it is given in small amounts. I do not feel comfortable giving it at all, therefore we stick with fish oils for our essential fatty acids.




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Fats & Oils

This is an article which is in our book. I thought it might be a helpful article to some, so figured I'd share it. Ginger let us use several of her articles in our book, as she always had lots of good info to share!

Fats and Oils

By Ginger Houston-Ludlam

Editorial Comment by Ginger: Supplements will not correct a lousy diet.  If you are filling your kids
with trans fats and then taking a fatty acid supplement, WHATEVER its omega content, you are fighting a losing battle.  Much of my reading and study of late has been dietary in nature and I am more convinced than ever that this is the real key to fatty acid balance, not just pills.

I want to do a very short chemistry lesson on fats before we start in, because I think a slightly deeper understanding of fat chemistry is in order before we start talking about the peripheral topics.  It really helps to know the difference between a saturated fat, an unsaturated fat and a trans fat before we start discussing omegas and so forth.  It's taken me awhile to sort it all out, so let me lay this stuff out on the table before we proceed.

A fatty acid is, mostly, a chain of a bunch of carbons and hydrogens. Carbons have 4 bonding sites.  (For completion, oxygen has 2 bonding sites and hydrogen has 1.)  In other words, 4 things can be attached to a carbon. If you think of tinker toys, it is a spoke with 4 holes in it to plug other stuff into.  When a carbon is in a chain, 2 of those sites are attached to the carbons on either side. A fatty acid is a chain of carbons with hydrogens everywhere except one end.  On that end is a carboxylic acid group (this being why it is called a fatty ACID) which means that it has 2 bonds to an oxygen, and a hydroxyl, or oxygen with a Hydrogen on the other open bond.  Here is a drawing of a 4 carbon, short-chain, saturated fatty acid called butyric acid. This fatty acid is almost exclusively available in the diet from butter from grass-fed cows (dietary sources of fatty acids will be discussed later).

Fatty acids are characterized by the number of carbons in the chain (the carbon "skeleton"), whether or not they have any double bonds between the carbons (unsaturated bonds), where those bonds are (the omega number) and whether or not those bonds are "cis" (the natural form) or "trans" (the
mostly man-made form - bad, bad, bad!)

A saturated fat is one where the carbons in the chain are connected to each other with single bonds, and have hydrogens on all other available bonds (except the acid end).  When one of the bonds between the bonds is a double bond, the fatty acid is now said to be monounsaturated - or one point of unsaturation.  If 2 or more bonds are double bonds, the fatty acid is said to be polyunsaturated.
Unsatured fats are further characterized by the "omega" number.  An omega-3 fatty acid has its first double bond between the third and fourth carbon counting from the non-acid end.  An omega-6 fatty acid has its first double bond between the sixth and seventh carbon, etc.

Now let's talk about cis versus trans bonds.  Yes, I hear the groans.  It is important to understand this to deeply understand why trans fats are so bloody dangerous to our kids!!  When a carbon is single bonded to another molecule, say another carbon, it really isn't in a straight line like drawn above.  It is really more like a zig-zag like this:

It should look like carbons connected to each other in a zigzag.  The angle between bonds is 109 degrees.  When a carbon double bonds to something else like another carbon, that bond angle changes to 120 degrees. 

So, if you were looking at a carbon chain with a "cis" double bond in space, it would look like it had a "kink" in the chain.  If there was another point of unsaturation later on, the chain would have another kink in it.  These kinks are very important in terms of the function of these molecules, and
also in terms of how the enzymes in the body (which turn these fatty acids into lots of other important stuff like hormones, prostaglandins, triglycerides, phospholipids, etc.) "see" them.  Enzymes are highly shape dependent, and if the molecule is the wrong shape, the enzyme won't work.

So, back to our kinky chains.  (There, that should spice this up a little!!)  In real life, most of our fatty acids should have cis bonds - this is a description of what happens to the chain on the either side of the double bond.  If you have a cis bond, the carbons on either side of the double bond would be on the same side.  Visually, it makes a bowl instead of a stair.

Here’s a drawing of a Cis bond:

What you should have is a carbon with a bond down to another carbon with a double bond to a third carbon with a single bond back up to the fourth carbon.  You see what I mean about it looking like a bowl? 

Now, here is a trans bond:

 

The carbon is bonded down to a second carbon double bonded to a third carbon, bonded down to a fourth carbon.  See how it looks like a stairstep?

If you hang a carbon chain out on those carbons that I have drawn on the ends, you will see that the cis bond gives you something with a kink in it, but that the chain with the trans bond ends up looking almost straight.

Enter the enzymes.  "I am an enzyme that operates on unsaturated fatty acids.  I am in search of a curvaceous, single fatty acid with a kink in her sixth carbon for walks on the beach and eventual permanent bonding."  He's going to examine all fatty acids that respond to his ad, and summarily
reject any fatty acid that does not have the right shape, such as the one with the trans bond.  All the enzymes for saturated fats will think she's the right shape, but there's that unsightly double bond.  So, poor little trans-fat, after being rejected by enzyme after enzyme, will run away from home, pierce her bellybutton, buy a Harley, and run around with a bad crowd of free radicals crashing cell membranes, loitering in arterial plaque, and otherwise making mischief.  It is very hard for the body to deal with these fats, because all of the enzymes are set up for fully saturated fats or cis-unsaturated fats.  Trans fats, being neither fish nor fowl, are just not dealt with very well.  I understand from those who have studied it that it takes YEARS for the body to rid itself of trans fats.

So, where do you get these trans fats?  Look on the labels for "partially hydrogenated (whatever kind of) oil".  It's in practically every baked good in the standard grocery store.  It's in standard brands of peanut butter. (Choosy mothers pitch Jif!!)  It's in every fried good in every fast food restaurant.  It is the main ingredient in Crisco or other shortening.  We are practically swimming in the stuff.  That's one of the reasons that I shop at the local Fresh Fields - it's still packaged stuff, but at least it is organic and it doesn't have trans fats.  You can find replacements for most familiar products, although they will taste a little different.

OK, enough on Frankenfats.

So, you've pitched the Jif, the Ritz, the goldfish (yes, those too!), and burned your Safeway savings card in effigy.  You have replaced them with Eastwind Almond Butter (yummy!), Hain crackers etc.  So where do we go from here?

Based on my reading, I have come to the conclusion that the first thing we ought to consider doing is replacing a lot of the unsaturated fats in the diet with saturated and monounsaturated fats.  Yes, you read that right.  A collective gasp goes up from the audience.  THIS IS HERESY!!

You know, I bought into the whole saturated-is-bad-monounsaturated-is-good-high-fat-is-bad-lowfat-is-good-eat-lots-of-grains-and-complex-carbs for a lot of years.  I mean big time.  I have my own grain grinder to make my own flour to prove it!!  And cases of canola oil.  And I also have the extra 40 pounds or so to prove it.  Up until about 6 months ago, I was busy eating my "healthy" diet, and
unwittingly aiming myself right at type 2 diabetes. 

I have been studying the work of Weston A. Price, who did research on long-lived people, and who came to the conclusion that many of the societies that lived the longest had diets with huge percentages of fat and very low grain consumption.  Most of these cultures ate a lot of fish (here's where the omega fats come in) and huge amounts of coconut and other tropical, saturated oils!! 

Every cell membrane in the body is made up of phospholipids, and phospholipids are made up of one saturated fatty acid and one unsaturated fatty acid!!  I was floored.  People on the coconut oil list
that I am on have had their kids lose behavior problems, cleared up excema, boosted their thyroid- all from eating a few tablespoons of coconut oil every day instead of the equivalent of polyunsaturated oil.  Yikes - talk about having been barking up the wrong tree for a lot of years!!  And
furthermore, we have enzymes specifically to take saturated fats and convert them to unsaturated fats.

Along with the wrong flavors of fats, this whole high-carbohydrate thing is on the chopping block for me.  People who have been following moderate programs such as the Zone, the Schwartzbein diet, Protein Power, or even more radical programs like the Atkins diet, are dropping pounds, triglycerides, cholesterol numbers - exactly the opposite of what has been the mainstream mantra.  This one is right up there with vaccines and "it's genetic, you can't do anything, just take them home and love them."  It is dogma, it is substantiated with flimsy research, and I am finding that I need to totally reeducate myself on diet.  For example, they have lumped trans-fats in with saturated fats when coming to the conclusion that saturated fats are bad for you.  Well, folks, they are not the same thing. If you look at cultures that eat a lot of saturated fat, they seem to be quite healthy, thank you very much.  However the poor coconut farmer in the Phillipines does not have the same political clout as Archer-Daniels-Midland and their seed-oil business, so they get tossed out with false propaganda.

I am learning that insulin, which is boosted by carbohydrate intake, is the real culprit, not the fat.  My big complaint with the Atkins diet is that being in a state of constant ketosis is also not good for you.  The body is highly acid in that state, which is not good, and it is burning the fuel that the body uses during starvation.  The other more moderate regimes are aimed at controlling insulin, not going into ketosis.  They focus on removing grains and sugar, and eating lots of vegetables and clean proteins.

OK, back to business.  Another subject, which fortunately shouldn't tax too many more brain cells but is important in understanding fat metabolism is the length.  You have perhaps heard about short-chain fatty acids, medium-chain fatty acids and long-chain fatty acids?  Not surprisingly, the distinction between these is how many carbons are in the carbon chain. Short chain fatty acids have 8 or less carbons.  Medium chain fatty acids have between 9 and 13 and Long chain fatty acids have 14 or more.  The significance is in how these are digested and what end products they make.  Short and medium chain fats are absorbed and digested much more readily than long chain fats.  Long chain fats are basically herded into fat droplets, and transported through an entirely different mechanism.  Medium chain fats are very easy for the body to turn into energy, so many people who start eating coconut oil, which is very heavy in lauric acid, a medium chain fat, find that they get a huge burst of energy.  Long chain fatty acids, whether saturated or not, are what the body uses as building blocks for most other things, such as cell membranes, prostaglandins, hormones and cholesterol. 

Here is where the omega 6 versus omega 3 hits the road.  One of the big issues in Down syndrome, and probably what that dietician was talking about in terms of the metabolic nightmare, is that if you have too many of the omega 6 fats, they can be converted into inflammatory prostaglandins.  The last thing we need is more inflammation going on in our kids bodies.  Like anything else, the body is looking for a balance, and when the balance is off, such as in the standard American diet which is so high in trans fats and omega 6 oils, the body suffers.

Finally, and this is where I am doing my reading right now to try to understand the implications is the subject of lipid peroxidation.  Remember our belly-pierced trans fat?  Well, the other biker chicks that she hangs out with are oxidized unsaturated fats.  Remember that fatty acids are carbons and hydrogens all along the chain until you get to the very end?  Places that have double bonds in that chain are very susceptible to being oxidized by free radicals.  (One of the reasons high hydrogen peroxide is so dangerous in our kids is that it oxidizes the fats in the cell, including the membrane.)  As I understand it from my organic chemistry, oxidation of a hydrocarbon means converting a double bond on a carbon to an alcohol (an -OH on the carbon where the second bond used to be) and perhaps further to a ketone (the other hydrogen on the carbon taking a hike with the hydrogen on the -OH and forming a double bond to the oxygen.) So, is this what an oxidized lipid looks like?  Regardless, there is no enzyme that's going to recognize these oxidized lipids.  Talk about unsightly bumps and bulges!!

Let me now point you to a chart that I have found to be very helpful in terms of dietary fat.  http://optimalhealth.cia.com.au/OilAnalysis.gif.  To help make sense of it, in the first column, is the name of the fat, and then there is the number of carbons followed by a : followed by the number of
double bonds.  So, butyric acid would have 4 carbons, with zero double bonds (i.e. it's saturated.)   Further down you find Omega 6 LA 18:2 Poly which means omega 6 linoleic acid, 18 carbons long, 2 double bonds (therefore polyunsaturated).  The rest of the chart shows the analysis of various
dietary oils according to their fatty acid content.  I believe he included cold-pressed, organic, unhydrogenated oils.  That is not necessarily what is out there on the shelves in the stores, so be careful out there!! 

Later in the chart, he gives the peroxidation index.  It's as simple as this- the more unsaturated an oil, the more likely it is to become oxidized (aka go rancid!).  That's why flax oil was removed from the Nutrivene protocol a few years ago and replaced with the Efalex in the first place.  Dr. Dave did an analysis in his lab and found that most bottled flax oil was already pretty rancid when it got to the health food store!!

At this point in my analysis of fats, I have come to the conclusion that for dietary purposes, I need to be using butter (organic, grass-fed for sure, and we are using raw butter which has an even higher butyric acid content), olive oil and virgin coconut oil.  The reasons I have come to those conclusions is to maximize the availability of the short- and medium-chain fatty acids that are just not available from other sources, and to minimize our dietary consumption of omega-6 fats.  I am supplementing this with Cod Liver Oil (unfortunately not included in his chart!) for DHA and fat-soluble vitamins, fresh-ground flax seed for linolenic acid, and fish oil for the longer chain omega 3’s.  According to Dr. Mercola, the fish oil sold at Costco, the Kirkland brand, is the best stuff because it is sold so quickly that it is always fresh.  It's quite reasonably priced too.

Now for the question that I have really been struggling with in terms of Down syndrome.  Since our kids have a very high level of oxidative stress going on in their bodies almost perpetually, what can I do to keep the good polyunsaturated oils from being attacked once they hit the body?  I am certainly giving a hefty dose of antioxidants in the Nutrivene and other supplements, but how quickly are these fats absorbed and tucked away safely into end products which are safer from free radicals?  I don't know the answer to that.  I guess my concern is that given the DS biochemistry, can we assume that supplementing these oils is doing the trick?

Boosting The Immune System & Dealing with Colds

Since it's the flu season time of year, I thought I'd share some tips that can help boost the immune system.

We keep these supplements on hand for boosting the immunity when the flu is going around:

-Echinacea
-Vitamin C
-Vitamin A
-Vitamin D
-Vitamin E
-Zinc
-Glutathione

We give Vitamin D to O every day and in the winter the rest of the kiddos normally get Vitamin D on a regular basis as well. Whenever there is a sickness going around, we increase the amount of Vitamin D that O takes from his regular 2000IU/day to 4000-6000IU/day. It makes a big difference in helping him get over the cold.

For some kids, the flu can turn into a bad chest cold, bronchitis or pneumonia. If the cold has turned into a bad chest cold, we will use some of these supplements to help combat the congestion:

-Ridgecrest Herbals ClearLungs (red label)
-Essential Oils, particularly Mom's Remedy.

ClearLungs has made a massive difference for all of our kids if the cold is started to make them real congested. It helps with the congested lungs very, very well.

Mom's Remedy can be used on the bottom of the feet or on the chest like VapoRub would be used. There are also some other essential oils that we have used to help boost the immune system. Heritage Essential Oils has several good oils.

Hopefully these ideas will help some :)!



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Afraid of Change?

Anyone who is involved in Down syndrome and targeted nutritional intervention will likely know that it's a very "hot topic" on many online message boards. Just asking the question, "What does everyone think about TNI or Nutrivene?" will open up a huge can of worms.

I found this out the hard way when we first discovered Nutrivene. Little did I know that it would be such a debated topic when I asked everyone's opinions on this matter. Although, it is much calmer than it was a few years ago on many online message forums, it's still a very passionate topic. And if you're on the "wrong" (I use that term loosely) message board it can bring quite a heated discussion.

For years I have been puzzled as to why this is such a huge debate. I understand people discussing this, weighing out the pros and cons, sharing experiences, etc. But, there are certain statements that are made frequently, which have always left me in confusion. These statements are made when the topic regarding the use of any supplement or TNI comes up on most (not all!) online message boards and email forums.

The statements are always along the lines of:

-I accept my child for who they are and I don't want to do anything to change that

-I don't want to change my child

-I don't want to take away the 'Down Syndrome' from my child 

These statements puzzle me.

From the beginning of us looking into the use of TNI for O, it was never because we wanted to change him or remove the Down Syndrome.  He had some serious health concerns and we needed something to help him be a strong, healthy boy.

When people say these things, I wonder why they would say something like this, unless they just do not fully understand what the use of TNI is for. And, it's obvious, from statements like these, that they don't understand. Because, if they did understand, they wouldn't say those things.

It almost seems as if they are afraid that using something like TNI, that it will change their child for who they are. It makes me wonder about the use of other early interventions.

If someone is so concerned about changing their child, why do people do Early Intervention - Physical Therapy, Occupational Therapy, Speech Therapy, Feeding Therapy, etc? It's the same thing that TNI does. It could be called Nutritional Therapy. Because, that's what it is. It's helping their body and it's nutritional needs. Just as Physical therapy is helping their body in it's physical needs. Or, Occupational Theapy is helping their body in it's fine motor needs. Or, Speech Therapy is helping their body in it's speech production needs. Or, Feeding Therapy is helping their body in it's eating needs.

We fully accept O for who he is with his extra chromosome. We are not trying to remove the 'Down Syndrome' or the extra chromosome from him.

What we are doing, is helping O's body deal with the biochemical changes that the extra chromosome causes. This is not speculation. It's a fact that there are 250+ additional genes in the body of a person with Down syndrome. Some of these genes and proteins are overexpressed in DS and they cause all sorts of harm to the biochemical, medical and nutritional needs of a someone with DS.

I don't want O to develop early Alzheimer's. I don't want O to develop dementia in his 20's. I don't want O to get leukemia. I don't want O to have thyroid problems. I don't want O to have nutritional deficiencies. And the list goes on.

This change is what we are going for. Change that will help O be a strong, healthy, cognitively aware person with Down syndrome. And by God's grace, he has shown us TNI that has the potential to do just that. God has used that to help him and I trust He will continue to use it to help O.

That is the change we're looking for. But, it doesn't remove the fact that O was born with Down syndrome and that, we are not trying to change. If there was a way to fully remove the harmful effects of the extra chromosome, I would do it. But, at this point, that is not a reality. What is a reality, is to use TNI and various other nutritional supplements to help counteract some of the effects of the 21st chromosome.




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Study on Impaired Methyl Cycle in DS

I came across this study the other day when I was looking up some studies for someone who had emailed me.

As most of us who are very involved in DS know, there is a big methylation problem in DS. This is due to the overexpression of the CBS gene (as the abstract below states).

Some children with DS are unable to tolerate "methyl donors", which are certain supplements, or even food sources. To try to help "normalize" the effects of the overexpressed gene, we supplement with extra TMG, and Methylcobalamin B12. It would be good to supplement with extra Folinic Acid as well, but my brother is one of those who cannot handle certain methyl donors. He is able to take some (like TMG & MeB12), but not others.

If you want to know more about the whole methylation cycle, a good book is Methyl Magic by Craig Cooney.

Anyways, onto the study,

Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome.

Infantino V, Castegna A, Iacobazzi F, Spera I, Scala I, Andria G, Iacobazzi V.
Department of Chemistry, University of Basilicata, 85100 Potenza, Italy.
Mol Genet Metab. 2011 Mar;102(3):378-82. Epub 2010 Dec 9.

Abstract

In Down's syndrome there is evidence that increased gene expression coding for specific cystathionine beta-synthase translates directly into biochemical aberrations, which result in a biochemical and metabolic imbalance of the methyl status. This event is destined to impact mitochondrial function since methylation is a necessary event in mitochondria and relies on the availability and uptake of the methyl donor S-adenosylmethionine. Indeed mitochondrial dysfunctions have been widely described in Down's syndrome, but they have never been correlated to a possible mitochondrial methyl unbalance. In the present study we find that the mitochondrial levels of S-adenosylmethionine are reduced in Down's syndrome compared to control cells demonstrating the effect of the methyl unbalance on mitochondria. The possible role of methylation in mitochondria is discussed and some preliminary results on a possible methylation target are presented.




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Supplementing with S.O.D - Is it Good or Bad?

One of my blog readers left a comment on a post mentioning that they give their daughter S.O.D (SuperOxide Dismutase) as a supplement. In the meantime, I have had email correspondance with them and discussed this topic, but I thought it would be helpful to share here as well.

SuperOxide Dismutase itself is sold as a vitamin supplement by a lot of companies. In and of itself, SOD is not bad. It is a powerful antioxidant. But, as with almost anything, too much SOD, causes lots of damage.

The gene for SOD is on the 21st chromosome and is 50% overexpressed in Down Syndrome because of the triplicated chromosome 21.

One example of the increased SOD can be seen in the study, Increased superoxide dismutase and Down's syndrome,

The enzyme superoxide dismutase (SOD) is a constitutive enzyme coded by a gene located in Chromosome 21 (21q22.1). Thus, the tissues from patients with trisomy 21 contain 50% more SOD activity.

This triplication causes an increase in the hydroxyl radical, which causes free radicals. Free radicals then turn into oxidative stress. Oxidative stress causes apoptosis (programmed cell death). 

Because of this, I would not supplement with S.O.D. because it IS in excess in DS.  And the excessive amounts are not helping people with DS, but actually causing many problems.

In Down Syndrome there are not enough antioxidants to combat the increase in oxidative stress, because the antioxidants are low. Zinc is low in DS, because of the overexpressed SOD gene. Glutathione is low because of the overexpressed Glutathione Peroxidase gene.

There are so many other good antioxidants that you can give people with DS, such as Zinc, Vitamin E, Glutathione, Blueberry, Curcumin, Coenzyme Q10,  etc, that I would not want to supplement with a source that is known to be overexpressed in DS.

Is the supplemental form of SOD the same as the form that is overexpressed in DS? I don't know, but personally, I wouldn’t want to risk it. SOD is overexpressed from the time the child is in the womb and throughout their whole life.



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Difficulty in Feeding a Baby with Down Syndrome

I received an email a couple days ago from a mother who is having difficulty getting her baby to breastfeed and take the bottle. My mom shared our experience in getting O to nurse here, but I thought I'd share a little more.

We had a very challenging time getting my brother, O, to eat in the early days. He was in the NICU for 2 weeks after he was born and had a gavage tube for much of that time. We finally had the NG tube taken out and my mom went into the NICU every 2 hours to breastfeed him. It was a lot of hard work, but he eventually caught on. Here’s a few thoughts, so hopefully some of this may help:

-Have you gotten in touch with a La Leche Leauge consultant? They have all sorts of tips and info on breastfeeding a baby who is having a difficult time. They helped us A LOT with Osiyyah!

-Have you tried using Nipple Shields? I know it sounds funny, but they help a lot of moms who have babies with a difficult time breastfeeding. You can order them online and a La Leche League consultant should have some or know where to get some.

-Have you tried using a SNS - Supplemental Nursing System? It’s a bottle that has a small tube coming out of it. You put your milk or formula (my mom pumped and used her milk) in it and then tape the tube next to your nipple. So, when your baby is nursing, she will be getting whatever she can from you, but also getting extra from the SNS. It doesn’t come out real fast, so it shouldn’t choke her. You can also use the SNS on your finger or pacifier for her to just suck on.

-Have you tried the Haberman (SpecialNeeds) Feeder? This is used for babies who have difficulty with bottles and nursing. 

-How do you hold her when you breastfeed her or bottle feed her? When my mom breastfed O she would have him in almost a 90 degree sitting angle. It seemed to help him get more down, easier and it wouldn’t drip out of his mouth.





-My mom also would have O's twin sister, Y, nurse until she had a let-down and then Y would get taken off and O would get put on. This milk is called the "hind milk", which is higher in nutrients anyways, but it was also easier for him to nurse because the milk was right there.


There's also a couple things to consider if you have a baby who doesn't want to nurse because they get tired quickly:

-How is the thyroid? A low thyroid (hypothyroidism) is very common in DS and it will cause sluggishness.

Does the baby have a heart condition at all? A heart condition will very often make a baby not want to eat much.

I know it’s very discouraging to see a baby who has little interest in nursing. I know it took a lot of work to get my brother going good on the breast. He had a bottle once, but we did not want him getting it much because we didn’t want him to get used to it. Once we did get him breastfeeding, he nursed until he was 2 years old.

Just keep trying and hopefully the baby will be able to do it well as you keep pushing her along!


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31 for 21: Dr. Henry Turkel's book, Post 1: Overview

For the last year, I've wanted to write some posts up going over Dr. Henry Turkel's book, Medical Treatment of Down Syndrome and Genetic Diseases, copyright 1985. From what I know, the book is out of print. I was able to find it used online somewhere several years ago.

It was a great buy and is an extremely interesting book. It's packed full of information and very fascinating to see what he had to work with and through in those early years. It will take several posts to go over the details in this book, so I will do that over a few weeks, Lord willing. I have 5 posts "written" on a few pieces of paper right now (and there will likely be a few more than that), so I have to put them all up here on the blog.

For those who don't know who Dr. Turkel is, here's just a snippet of background info:

Dr. Henry Turkel was a doctor in the 1950's and earlier who treated patients with Down syndrome and other genetic conditions with nutritional supplements, diet and medications.

On Page 1 of the book, Dr. Linus Pauling writes,

There is an increasingly great and increasingly convincing body of evidence that the use of vitamins, minerals, and other orthomolecular substances in the proper amounts, the amounts leading to optimum health and to the best treatment of disease, has great value in the control of infectious diseases, cancer, heart disease and genetic diseases. there seems, however, to be a bias against these substances on the part of the medical profession and of nutritionists. The result is that there is opposition to orthomolecular medicine.

The work of Dr. Henry Turkel provides a striking example of the way in which this opposition operates to the detriment of the health and well being of a large number of people. Dr. Turkel has developed, over a period of decades, a treatment of mentally retarded children with the use of vitamins, minerals, cerebral stimulants, and other substances. He has gathered together a convincing body of clinical observations showing that the genetic condition of mental retardation need not be accepted as inevitably leading to permanent defect and inability of the individual to function in normal society. Dr. Turkel has indeed provided new hope for the mentally retarded and for members of their families, hope that a great improvement in functioning can be achieved.

This is a good overview of what Dr. Turkel's book goes over. It covers everything from the beginning of his development of the U Series, specific cases of Dr. Turkel's patients, his attempt to get his U Series FDA approved, and the success of patients on the U Series with DS both in the US and abroad.

Dr. Turkel earned his medical degree in 1936 and went into private practice. He also perfected biopsy instruments before the second world war. The instruments called the Turkel Trephine Instruments as well as the Turkel Needle. All of which were used routinely in World War II. He was also appointed consultant for the Surgeon General  in 1952.

A boy named Peter was who started Turkel's research into Down Syndrome. Peter's father inquired about possible treatment for his son. Dr. Turkel knew nothing about Down Syndrome, but he had studied how nutrition can help other genetic conditions.

When Dr. Turkel first started working with Peter and his other early patients with DS, it was not known what caused DS. As he states in his book on page 5,

When I first treated Peter, maternal exhaustion, low thyroid, depleted ovarian function, and similar deficiencies were proposed as the cause of the disease.

So, what Dr. Turkel did was,

Instead of considering the underlying cause of Down syndrome, I looked at the anomalies and realized that many of them were similar to those diagnostic of genetic diseases that I had already treated. I immediately considered the possibility of medical/nutritional therapy. I dispensed the three units of the "U" Series simultaneously, adding a broad spectrum of vitamins and minerals in pharmocological dosages, as well as enzymes, to correct the physical retardations that I attributed to malnutrition caused by the accumulations.

Peter is who brought Dr. Turkel into the realm of patients with DS and mental retardation, as Turkel writes on page 6,

Peter improved and news about the "U" Series spread. With few exceptions, since the 1950's, I have restricted my practice to the treatment of patients with Down syndrome and other diseases associated with mental retardation.

This finishes the first post about Dr. Turkel's book. I will leave you waiting for the next post to find out what comes next :).



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31 for 21: History of Targeted Nutritional Intervetion

I've decided to start to go over Dr. Henry Turkel's book which he wrote in the 1980's. Dr. Turkel was one of the first doctors to use nutritional supplementation in people with DS. The first post covering his book is scheduled to post tomorrow. But, before that, I thought it would be helpful to share an article which is in our book that goes over the history of Targeted Nutritional Intervention (TNI).

The History of Targeted Nutritional Intervention
By Qadoshyah Fish

Henry Turkel

The idea of giving vitamin supplements to individuals with Down syndrome has been around for many years.  It started in the 1950’s with Dr. Henry Turkel’s work¹. The effects and all that the extra chromosome did were not yet known at that time.  Therefore, Dr. Turkel’s work was, in a way, working in the dark.  It was not until 1974 that researchers began to realize what genes were on the 21st chromosome. It was not until a few years later that it was discovered some of these genes were actually being over-expressed in patients with Down syndrome and therefore causing some or all of the problems associated with Down syndrome. This would not be fully realized until years later when the Human Genome Project was done in the 1990’s.  In the 1970’s and years prior, it was thought that the genes from the extra chromosome were “turned-off” and played no role once the person was born, as can be seen in this quote from Dr. Turkel’s book,

The medical consensus that there were no metabolic imbalances in Down syndrome was so deeply entrenched that as recently as 1977, some medical students were still being taught that the extra genes encode structural defects before birth and then “turn off” (Expert’s testimony in Superior Court, Los Angeles, California #C 88260). (Medical Treatment of Down Syndrome and Genetic Diseases by Henry Turkel, M.A., M.D., Ilse Nusbaum, M.A. Copyright 1985. Page 172)

Dr. Turkel’s supplement was called the “U Series.”  It was a protocol with a variety of vitamins, minerals, drugs and many other nutrients to be taken throughout the day. Because Dr. Turkel’s work was without all the medical research that we have today, the doses of vitamins and nutrients that were given patients were very large “mega doses” of nutrients. His protocol was conceived after the father of a boy with Down syndrome approached Dr. Turkel in 1940 about a “possible treatment for his son.” Dr. Turkel’s “U Series” helped this child and therefore word spread about the “U Series.” In the 1950’s Dr. Turkel restricted his practice, with a few exceptions, to only patients with Down syndrome and other forms of mental retardation.  Dr. Turkel saw many improvements in the patients in which he used the “U Series.”

In 1959, Dr. Turkel applied for a “New Drug Approval” for his “U Series” from the Food and Drug Administration, but they denied Dr. Turkel’s appeal for approval. It was denied because the FDA did not consider the newly discovered implications of the extra genes on the extra chromosome 21 and therefore “concluded that since the ‘U’ Series could not remove the chromosome, it could not help the patients.” (ibid, page 209).  The FDA stopped Dr. Turkel from interstate distributing of the “U Series”, but he was legally able to sell the “U Series” within the state of Michigan.

Dr. Jerome Lejeune, who discovered the cause of Down syndrome, Trisomy 21, was also using vitamin and nutritional supplements with his patients with Down syndrome during the 1960’s. He was not using the “U Series,” but he was using some of the same vitamins and nutrients that were in the “U Series.”

Jack Warner

Dr. Jack Warner started his private practice in the early 1960’s². A few years after beginning his practice, Dr. Warner saw his first patient with Down syndrome.  It was then that Dr. Warner started extensively researching Down syndrome.  In 1984 his research led him to meeting Dr. Turkel. Dr. Warner was  impressed with the good results that he saw with the “U Series” that he started referring many of his patients to Dr. Turkel.  After constant research and continuing to see the beneficial effects from the “U Series” it led Dr. Warner to several other doctors and biochemists from the Linus Pauling Institute. This gave new knowledge and showed the increased benefits and effectiveness of certain nutrients from new research which led Dr. Warner to design the High Achievement Potential Capsules (HAP Caps) to be used with patients with Down syndrome.

HAP Caps were formulated in an FDA laboratory and received FDA approval in 1986. Unfortunately Dr. Warner’s research and HAP Caps have “fallen by the wayside” since his death in 2004.

Nutrichem’s MSB Plus

In 1982 Kent Macleod met the mother of a child that was severely brain damaged and had seizures³. He was able to treat this child with certain vitamins and it helped him tremendously, stopping his seizures. This mother began to research how nutritional supplements may benefit her son and found the work of Dr. Henry Turkel.  She asked Macleod to look at the research and findings of Dr. Turkel. She set a meeting up with Macleod and some mothers of children with Down syndrome to discuss the work and claim of Dr. Turkel. At this meeting, Macleod told the parents that if he were to consider this treatment, he would change Dr. Turkel’s formula.  Therefore, Macleod started to develop the first MSB Plus formula. Macleod’s work with children with Down syndrome continued to grow slowly over the years by word of mouth as parents told other parents the health benefits.

In the early 1990’s, Macleod was contacted by a mother, Dixie Lawrence, who’s adopted daughter had Down syndrome. Dixie asked Macleod if he would consider customizing the MSB formula based on her daughter’s blood work results.  At this time there was research and work being done in France by Dr. Marie Peeters-Ney and Dr. Jerome Lejeune on amino acid deficiencies being linked to certain genes on the 21st chromosome. After hearing the positive reports by parents who had been giving their children MSB Plus for the past 10 years and seeing the research done in France, Macleod was convinced to work with Dixie on a customized formula for her daughter.  Interest in Nutrichem’s MSB Plus grew tremendously after Dixie aired on the Day One program in 1995.

Today Nutrichem still provides their MSB Plus formula to thousands of families all over the world. 

International Nutrition’s Nutrivene-D

Nutrivene-D was originally developed by Dixie Lawrence Tafoya for her daughter with Down syndrome in the early 1990’s⁴. Dixie learned of Dr. Turkel “U Series” and was able to find Dr. Turkel in Israel where he had retired.  Dr. Turkel informed Dixie that he was not seeing patients anymore and that he had left his “U Series” to a pediatrician, Dr. Jack Warner, in the U.S.⁵. Dr. Warner greatly altered the “U Series” formula, which would now be known as the HAP Caps. Dixie decided to pursue this further and therefore she and 30 other families met with Dr. Warner.  The HAP Caps did not have much impact on Dixie’s daughter.  By this time research had been published that showed metabolic differences in patients with Down syndrome.  Using this research, input from numerous scientists and her daughter’s blood and urine analyses, Dixie started to develop her own TNI formula. Dixie “fine tuned” the formula by looking at the specific abnormalities measured in her daughter’s blood and urine testing.  

The scientists who were initially involved by researching abstracts and articles which documented metabolic and nutrient concerns in Down syndrome also helped reference the TNI formula to the U.S. RDA for safety.
Today, the Nutrivene-D formula still uses scientists and doctors to make updates and improve their formula based on current research and studies which are done. Certain nutrients may be added or changed, as new research emerges. The Nutrivene-D formula is used by thousands of families throughout the world.

Conclusion

Since the calm beginnings in the 1950’s and Dr. Turkel’s approach with “mega-doses” of nutrients, to where we are at currently with Nutrivene-D, it has been a long path and will continue to be an ever changing path as new research emerges. Dr. Turkel started with a good idea, but thanks to new research, and much work to scientists, parents, and doctors, we can now safely give children with Down syndrome a formula which is “targeted” to meet their specific metabolic and nutrient needs. 

1)    Medical Treatment of Down Syndrome and Genetic Diseases by Henry Turkel, M.A., M.D., Ilse Nusbaum, M.A. Copyright 1985
2)    Warner House Clinic History. http://www.warnerhouse.com/
3)    Down Syndrome and Vitamin Therapy, Unlocking the Secrets of Improved Health, Behaviour and Intelligence by Kent Macleod. Printed October 2003
4)    A Circle of Friends II by Aunt Gini Mullaly & Deborah Saxton-Bolt. Copyright 2000.
5)    Smart Drugs & Down’s Syndrome by Steven Wm. Fowkes & Ward Dean, M.D. February 14, 1994 issue of Smart Drug News. [v2n10]




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31 for 21: Glyconutrients

There are so many supplements that fly around in the Down Syndrome world. So many different things people try. Some of them are helpful. Some of them are good. Some of them are wacky. Some of them are not helpful. Some are just plain off the wall!

I hope to go over a few more of these as well.

One supplement which people use at times and is brought up often, is Glyconutrients.

First off, the term "Glyconutrients" refers to 8 essential sugars. There are several groups out there which claim you need these "8 sugars" to proper health. One of the most prominent being Mannatech, which is a Multi-Level Marketing company.

Personally, I believe Glyconutrients are a big hype, that isn't worth giving as a supplement. I've looked at it more than once over the years.

The biggest clincher for me, though, to really question glyconutrients for people with DS, is that they are just a bunch of sugars. Sugars are pro-oxidant. People with DS are already battling a pro-oxidant state & lots of oxidative stress (due the 3rd chromosome). Therefore, it makes me question why or how it could be good to supplement sugars. They may appear to be beneficial at the moment, it just makes me wonder what kind of impacts they will really have down the road. Oxidative stress & a pro-oxidant state = mental retardation, alzheimer's disease, cancer, leukemia, and all sorts of bad things.

When I researched glyconutrients, I searched high and low for the research which Mannatech claims is out there to show that there are these "8 essential sugars" that you body needs and I couldn't find anything. To this day, I cannot find any unbiased (or even biased, because there is a lot out there!) research which shows you need these sugars.

Glyconutrients are found in just regular fruit & vegetables that your child may eat, so why supplement with sugars that are pulled out of this?

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