finger and toe nails

[kim]

Pardon me if I'm out in left field

 

 

Sunshine,

 

For me you are the shortstop, pitcher, center fielder, first baseman. Thank you so much.

 

I spent a little time on the Yasko site today. The CBS is considered an upregulation? I mostly get the part about the gate sort of being stuck open. Goes to show how complicated all of this is. I had asked you for a phone # in a post a ways up. I found it, and plan on calling the first part of the week. I was deleting some old PM's and noticed where Dee had said that two phone consults totaled a fairly hefty amt. I plan on understanding as much as possible before I get on that phone! To make things just a bit more complicated, it seems the genetics profile has changed recently. I don't see where the CBS is called CBS.

 

I saw the part about vit D being important in sugar regulation, all kinds of things that made me want to cry and jump up and down for finally thinking I'm on the right path for helping my youngest son have a shot at eating normally and maybe avoid problems with diabetes in the future. I also thought I maybe could have the genetics panel with recommendations done, and go from there quite a bit on my own. The more I read, the more I felt some of the other testing, might be necessary as well. Can you comment on what testing you had in addition to the genetics?

 

I hope you had a wonderful day with your family Sunshine, and thank you again for all of your help.

[faith]

Kim,

just to clarify, and you probably realize, we are "heterozygous mutant". Our report says "compound heterozgote". (on C677T and A1298C)

 

Sunshine,

what determined the need for lots of B6? ...... (EDIT: meant B12, not B6)........ He showed deficient or high levels? (we showed high, and then they test for the MTHFR using that as a clue, I suppose. Never heard of hydroxy, is that given orally or sublinqual? Have you noticed any improvement in symptoms due to this protocol?

 

Faith

[Sunshine]

Hi Kim,

 

Thanks for your kind words! I am so sorry that I didn't pick up on your note about Dr. Mullan's number. I am glad that you found it. She is great, although expensive... Dee is quite correct!

 

In the beginning, we had a complete SNP panel done (about $750 ish). We also began with a Metabolic Analysis Profile (MAP) and an Amino Acid Profile. Before our first phone consult I had faxed her the results of the recent DMSA Heavy Metals Test and a recent Comprehensive Stool Analysis (CSA). That was our starting point.

 

We continually run (at least monthly) Urine Toxic Metals Tests and Urine Essential Elements Tests. We also do CSAs and MAPs, but less often. Dr. Mullan orders the tests through Doctors Data, and we ship samples to the lab. The results are sent directly to her, with copies mailed to us. It adds up financially!!!!! As do all of the supplements that she recommends!!!!!

 

I do think that you could wade through it on your own. The Yasko site is SO helpful, and you already know SO much. With all of your talents on wading through scientific mumbo jumbo, you will master the protocol in no time flat. Perhaps just one phone consult would set you on the right track.

 

You are right about the CBS being an upregulation. Cystathionine Beta Synthase (CBS) is a key enzyme in homocysteine metabolism. There are actually four CBS SNPs that Dr. Amy tests. One is CBS C699T, another is CBS A360A, another is CBS 313 and the last is CBS N212N. I believe the former is more serious, and Dr. Amy sees it as a link to autism (the majority of her older autistic patients have the C699T mutation). It should still be called the CBS, as far as I know, but the profile may have changed.

 

I hope that it will help your younger son. Even if you start with the top 10 supplements and GABA/Glutamate balancing, you might see a difference. My son grew taller and gained weight on the protocol (yeah!), although he was eating a healthy variety of foods before Yasko. He also has his lovely skin colour back... he had been a pasty ghost, even in the middle of summer.

 

Faith... my son actually needs B12. His test results (from tests listed above) showed the need. Hydroxy B12 can be given in several ways: sublingual, nasal, shots, and I believe that there are now drops. The B12 makes my son worse at first (detox... measured by UTMs), but then he levels out. He has made great progress on the protocol (he is overall healthier!!!).

 

I'm off to bed, after a wonderful family day. I no longer take such days (or moments) for granted... a silver lining to all of these health concerns!

 

Cheers,

Sunshine

[CSP]

Kim,

 

(mcg) Thats what I ment. Thanks for pointing that out, I would not want anyone to be confused.

 

For the OAT report the methylation was only for B12 and folic acid. SpectraCell Lab had him deficient (B12 Cobalamins) shown from his lymphocytes.

 

You asked me about "anemia" I see he could be deficient from hematological or neurological. When I first read these tests I thought it was neurological. Now I'm not sure if it is from lymphocytes (something to do with the cells right?)

 

I kind of by skipped over the homocystine thinking that was something that would be a concern if he was older and worried about cartiovascular disease.

 

Again, I was leaning to the animal foodstuff, because of it coming up "cobalamins"

 

Dr. said we could do injectable, pills, or a patch as forms of B12. Sunshine, how old is your son? Faith, how much does you ds get of B12?

 

CP

[faith]

Sunshine,

what did you mean by "give the top ten supplements"? is that the supps they recommended based on your testing? You did this all through Dr. yasko, or just followed the protocol through this Dr. Mulan? how did you go about starting that? The doc is in your area?

 

 

CP, our vial says methlcobalamin, 25 mg/ml and we fill the syringe to 3cc. (its like an inch worth of liquid).

 

 

 

Faith

[kim]

Sunshine, Again thank you for that wonderful post. You threw me right in bmom's boat with the palpatations thing. I was so sure it was hubbies side, then started to suspect I play a part here too. If GABA doesn't cross the BBB, but works to balance the glutamate/GABA in the rest of the body, well I might have to take note too. I also see psorisis linked to 8q24 one of the suspected "bony tumor" genes. Uggggh. This is such a hugely complicated subject, I'm SO glad you didn't abandon this site. One thing though, do you have the number of a neuro that will tell me that this is JUST TICS. I think I would really like to hear that again! I kind of dropped the genetics connections, because I didn't want to scare the daylights out of people. I'm not saying that i fear dreaded conditions, just want to minimize the chance and optimize the good stuff.

I am getting a big dose of "calm" from somewhere and I don't think it's totally from magnesium, but I do have my moments of this being a little bit more than I can handle. Tics are so greatly subsided from younger years, but this is almost more about other things now, as in longer term health.

 

Since your son has the PANDAS connection Sunshine, can you say if you saw an overnite explosive onset of any symptoms, or just a worsening during strep. I think there are many people that may like to hear that answer.

 

Faith,

 

I suspect Sunshine has done her own research on the Yasko forum AND followed the rec. of her Dr.

 

Here is the website. It talks about the top 10 supplements, lots of info for the MTHFR mutations and I did find CBS (and more). You can find more info there than you will probably be able to process. Just take it slow (words of advice to myself as much as you!)

 

two mutations in MTHFR, that would make a difference, no... I didn't realise that.

 

If what I suspect is right, Step 1 Support for glutathione/sulfur:

* USE LIMITED support if you suspect a CBS up regulation

 

That is contrary to what I would have thought, but there are reasons for it, that make sense.

 

http://www.ch3nutrigenomics.com/phpBB2/ind...69514449e8233c0

 

CP can you check clostridial marker dihydroxyphenylpropionate on your sons test too. Again, we were under 0.1 very very low also tricarballylate too.

 

I started with a 3 form of B12, recently went to a methyl sublingul B12. Little one has a slow head turning thing going on. It is only a 1 mg tablet. I know I can get reg Dr. to test B12 for me. He recently checked vit D levels and they were fine (i was sure it would be..his idea), but it may be a problem with the receptors. That's the tricky part about this blood work. I don't want the boys poked anymore than necessary so I've been holding off until I knew exactly what I wanted out of the next round. Youngest, it was recommended for, with the last strep episode. We have had unusally low white count with one rashy high fever illness. Apparently white count was ok, which was somewhat reassuring. I still have to get my copy of that bloodwork.

[CSP]

Kim,

 

Dihydroxyphenylpropionate, pretty low 0.16. Tricarballylate, 0.6.

 

CP

[kim]

In light of my last post, I just wanted to quickly add that I DO NOT BELIEVE every child who experinces a tic/tics has a predisposition to serious illness.

 

We have a very diversified group here, and info shared on this thread may only apply to a small %. I guess we are all here, for answers other than the ones we have been given in most cases. It's very hard a lot of times to decide what could be helpful and harmful when posting. This is very speculative at this point, on my part!

[Sunshine]

CSP

My son is 8 years old.

 

Faith

Kim is correct about the top ten supplements. Dr. Mullan follows Yasko's protocol. We got her number through Dee, an old poster here. Dr. Mullan is neither in our area, nor our country!!! Our pediatrician (who really has zero experience with PANDAS) has no contact with Dr. Mullan. Nor does our ND. Dr. Mullan works by phone consult.

 

Kim

Yes, my PANDAS son had a SUDDEN and SEVERE onset of multiple motor tics. I have the date marked on my calendar. However, he had a SEVERE case of strep 6 months prior. In retrospect, I realize that he had PANDAS symptoms (huge separation anxiety, emotional lability, clothing sensistivity, sleepless nights...) in the following months. He had another case of undiagnosed strep, IMHO, and 10 days later the floodgates of tics and frequent urination opened. Of course no doctor ever mentioned PANDAS, so we carried on, tics subsided, and then we gave him his Kindergarten vaccination. WHAM!! Within 10 days he had severe motor tics and, for the first time, vocal tics too. This is a real nutshell version, missing some details, but my old posts tell the drama of it all. That was 3 years ago. Yikes!!!

 

My son is SO much healthier than he was three years ago. I still keep his Kindergarten photo on my desk to remind me just how sick he was. The contrast is astonishing. We started this journey to help the tics, but realize now that they weren't the only problem. I mourn the fact that my own child's illness is what was required for me to finally stop and look hard at our lifestyle, our environment, and alternative medicine. Yet our family has learned so much, and we are thankful to be so healthy. My son still tics (but nothing like before), and most people wouldn't notice. He has no other PANDAS symptoms at all. He is a smart, athletic, social, and very handsome grade 2 boy. I would be thankful if he remains as healthy as he is today. I couldn't ask for more!

[Greyhound]

My nails have always been strong as healthy, as has my hair.

 

Also, since taking magnesium, my nails seem to have got a bit stronger.

[kim]

Greyhound...thanks for adding.

 

I remarked on another thread about confusing gluconic acid for glucuronic acid. They are chemically very similar, but the study refers to glucuronic acid. So, this is part of what wiki says about glucuronic acid.

 

glucuronic acid

(GlcA)

http://en.wikipedia.org/wiki/Glucuronidation#Glucuronidation

 

Glucuronic acid (from Greek γλυκερός - "sweet") is a carboxylic acid. Its structure is similar to that of glucose. However, glucuronic acid's sixth carbon is oxidized to a carboxylic acid. Its formula is C6H10O7.

 

Glucuronidation

Glucuronic acid is highly soluble in water. In the animal body, glucuronic acid is often linked to the xenobiotic metabolism of substances such as drugs, pollutants, bilirubin, androgens, estrogens, mineralocorticoids, glucocorticoids, fatty acid derivatives, retinoids, and bile acids. These linkages involve O-glycosidic bonds, and this linkage process is known as glucuronidation.[1] Glucuronidation occurs mainly in the liver, although the enzyme responsible for its catalysis, UDP-glucuronyltransferase, has been found in all major body organs, e.g., heart, kidneys, adrenal gland, spleen, and thymus.[2] UDP-glucuronic acid (glucuronic acid linked via a glycosidic bond to uridine diphosphate) is an intermediate in the process and is formed in the liver.

 

The substances resulting from glucuronidation are known as glucuronides (or glucuronosides) and are typically much more water-soluble than the non-glucuronic acid-containing substance from which they were originally synthesised. The human body uses glucuronidation to make a large variety of substances more water-soluble, and, in this way, allow for their subsequent elimination from the body upon urination. Hormones may also be glucuronidated to allow for easier transport around the body. Pharmacists also commonly link drugs to glucuronic acid to allow for easier drug delivery.

 

 

CP,

 

Look at this, keeping in mind that our kids appear to have low levels of phenylacetate (just that one for now).

 

http://www.drugs.com/ppa/sodium-phenylacet...m-benzoate.html

 

Sodium phenylacetate and sodium benzoate are metabolically active compounds that can serve as alternatives to urea for the excretion of waste nitrogen. Phenylacetate conjugates with glutamine in the liver to form phenylacetylglutamine (renally excreted), and benzoate conjugates with glycine to form hippuric acid (renally excreted). This results in reduction of waste nitrogen levels in patients with deficiencies of urea cycle enzymes, thus attenuating ammonia and glutamine-induced neurotoxicity.

 

I'm wondering if your test shows phenylacetylglutamine? If we have zip phenylacetate, it seems to me that we are probably not making it to phenylacetylglutamine properly, but without that value (our test doesn't show) i don't know for sure.

[kim]

In addition to above, I'm wondering about the "sulfa" allergy too, If glucuronic acid is involved in the metabolism of so many things, drugs included, just wondering how that fits in.

 

This was interesting too, from an old article written by Bonnie (Bontech vits).

 

http://www.bio.net/bionet/mm/neur-sci/1996...ary/022416.html

 

He also is allergic to sulfa, molds, dust, grass, trees, and most airborn

allergens. He has been on the vitamins below for 1.5 months and the

teachers

[CSP]

Kim,

 

No, our test does not have phenylacetylglutamine.

 

CP

[kim]

Sunshine,

 

Thank you so much for that last post. It sounds like YOU are the one who is able to wade through all of the mumbo jumbo quite efficiently!

 

I'm reading my eyeballs out on the Yasko forum. Amazing info that clarifies a lot of questions I've had.

 

 

 

Thanks CP

 

I just have to wonder if you would see an improvement in your sons tics if you did a low protein diet for a week or two. I'm not saying that is any answer long term, but I'm getting the feeling too much protein may be responsible for some flare ups.

 

I'm wondering if you have read this paper? I'm not looking at the chronic infection part, I'm thinking of a condition where the GAGS are not sulfated properly (genetic...maybe with a little help from environmental or vaccine damage). I'm also thinking of your son's test results showing protein metabolism problems. I am becoming more and more convinced that my instinct about not forcing protein (adding a protein powder to drinks) on my youngest son may very well have been right.

 

http://osiris.sunderland.ac.uk/autism/owens.htm

 

Supporting that supposition is evidence that those who have protein malnutrition produce insufficiently sulfated GAGs. (58) Even with a normal diet, chronic infection might lead to GAGS shedding and replacing themselves so quickly that there would be inadequate sulfate to insure the proper structure and surface charge on new GAGs that are forming. At that point, one might expect to find evidence of this lack of sulfate in poorly formed GAGs (80), and might also expect to see other sulfate-requiring systems of the body going lacking.

 

This article is interesting too. I believe it is talking about an extreme in ammonia problems, but I did find this interesting

 

http://www.emedicine.com/ped/TOPIC1057.HTM

 

Two moles of waste nitrogen are eliminated

with each mole of urea excreted. A portion of the cycle is

mitochondrial in nature; mitochondrial dysfunction may impair urea

production and result in hyperammonemia. Overall, activity of the

cycle is regulated by the rate of synthesis of N-acetylglutamate

(NAG), the enzyme activator that initiates incorporation of ammonia

into the cycle.

The brain must expend energy to detoxify and to export the ammonia it

produces. This is accomplished in the process of producing adenosine

diphosphate (ADP) from ATP by the enzyme glutamine synthetase, which

is responsible for mediating the formation of glutamine from an amino

group. Synthesis of glutamine also reduces the total free ammonia

level circulating in the blood; therefore, a significant increase in

blood glutamine concentration can signal hyperammonemia.

 

and

 

The CNS is most sensitive to the toxic effects of ammonia. Many

metabolic derangements occur as a consequence of high ammonia levels,

including alteration of the metabolism of important compounds, such as

pyruvate, lactate, glycogen, and glucose. High ammonia levels also

induce changes in N-methyl D-aspartate (NMDA) and gamma-aminobutyric

acid (GABA) receptors and causes downregulation in astroglial

glutamate transporter molecules.

and

 

As ammonia exceeds normal concentration, an increased disturbance of

neurotransmission and synthesis of both GABA and glutamine occurs in

the CNS. A correlation between arterial ammonia concentration and

brain glutamine content in humans has been described.

[CSP]

Kim,

 

Thanks that was interesting reading.

 

About the low protein diet. I think I will give that a try, when I have gotten through a few months of the gluten free diet.

 

I'll start a new thread I would like you to look into for me.

cp