Calling Dr. Bombay, calling Dr. Bombay

[smartyjones]

Okay -- how old am I? reallly, just old enough for the reruns. wouldn't that be great - Dr. Bombay to pop in with solutions?!

 

once you determine you have specific SNP mutations, is it definite that you should avoid certain supplements -- or is it just as genetic tendencies, that you could be more predisposed to have trouble with it, but you may be okay -- like more of a possibility to turn on that gene, but not definite?

 

do the SNPs cause trouble with processing of certain amino acids?

 

there's not a way i will be able to do the test and know for sure of these mutations before, but i suspect. . . does a CBS mutation and/or Vitamin D receptor mutations indicate more trouble with anethesia or particular anethesia drugs?

 

Dr Bombay? Bueller? Anyone? LLM -- i think it's you!

[beeskneesmommy]

I have no clue as to the answer to your questions, but I have to tell you that you cracked me up (a rare phenomena for PANDAS parents) when I read your title. I actually AM old enough for the originals, haveing given birth to my son at age 42!! Good luck on your quest for answers to interesting questions! -Kath

[LNN]

Ok, I am old enough to have watched Bewitched - not in reruns but first time broadcasts. Oh well, with age comes wisdom????

 

The answer to your general question is that genetic testing tells you your odds of developing a problem but they aren't fate. Epigenetics is the emerging study of how we might be able to turn on, turn off, dim or work around a possible disease development or health problem. You can have an MTHFR problem and work around it by avoiding regular folic acid and supplementing with methylfolate - thereby doing the work this gene can't. Some lifestyle changes or diet changes can possibly do the same thing for other genetic predispostions. How do you tell if a gene mutation has been activated? That's still being worked out as far as I can tell. Still a lot of trial and error.

 

For example, if you have a CBS mutation, some sites talk about testing your urine regularly to look for certain things. You change your diet and if you see changes for the positive - in both how you feel and in urine results - it's an indication your CBS mutation is activated and is something you need to address. If you don't seem to have issues or feel poorly or if changes in diet/lifestyle don't make much difference, perhaps it's only something you need to put on your radar. You can have a BRCA gene polymorphism for breast cancer, putting you at greater risk, but it doesn't mean you have active cancer or will definitely develop it. it does mean you need regular screenings, need to avoid things that can activate the gene and if you do develop breast cancer, be more aggressive in treatments.

 

And even if your gene is turned on/off, it doesn't mean a death sentence. Yasko reminds people it's about maintaining balance. If you have a CBS mutation that's active, you'll struggle with eating protein, probably generating excess ammonia and free radicals. But the body needs protein to function. So you may need to limit your protein and take supplements to help you mitigate the side effects but it doesn't mean you can never eat meat. An activated CBS gene mutation makes it harder to process sulfur foods, but it doesn't mean you can never consume garlic. Only that if you do eat garlic, you should limit other sulfur foods to avoid problems. It's always about balance, not yes/no/never.

 

Also, there are many co-factor enzymes that can influence a gene's activity and also an interplay between genes that have to be considered. It's a genetic symphony. If the guy next to you is playing in the wrong beat, it can mess you up even if you'd normally not be prone to errors.

 

Some people don't want to know this information and it's one reason for avoiding a test like 23andMe (tho they lock both the BRCA and alzheimer's results unless you specifically click yes on two different screens to unlock them). But others feel more information is power. So it's a personal decision.

 

As for your question about anesthesia, I think it's your NOS genes that influence that - NOS is nitric oxide synthase and there are three NOS genes NOS1, NOS2 and NOS3 each having dozens of identified snps. But I could be wrong as I haven't really looked into this aspect yet. CBS may play a role - I'm just not sure. There are a few methylation support groups on FB. Some are private. If you want that info, let me know. They're often visited by people groping in the dark but occasionally you can pick up good snipits of info. You can post this specific question on MTHFR Support on FB - someone will likely answer within the day. A quick google search gave me this link http://anesthesiology.duke.edu/modules/anes_genes/index.php?id=1 but I haven't browsed the site yet.

[rowingmom]

My concern is that we tend to assume the answers to these genetic tests show us a complete picture. While I agree that some results can give an indication of which type of supplements/foods/drugs may cause cause a negative response, but we have to remember that our understanding is far from complete.

 

I was thinking about DD11's heterozygous MTHFR deletion the other day. While I was carrying her we had two ultrasounds indicating increased ventrical volume in her brain. She was born with deep bruising on her lower back in the area commonly associated with spina bifida. These markings remained for several years. The doctor said they were unimportant, and fortunately there was no problem with hydrocephalus. So I wonder if these potential complications were the result of my increased folic acid intake (as opposed to methylfolate supplementation) while taking prescribed prenatal vitamins.

 

Specialists (mainstream and otherwise) are often ready to jump on the new bandwagon, so sure that any new information (ie at that time, the correlation of low folic acid levels with spina bifida) must be the definative answer. I certainly don't think our understanding of genetic signalling and the impact of diet, gut biota, the immune system, and it's responses to different types of infection are anywhere near complete.

 

"Dr Bombay, come right away!" sometimes springs to mind here as well. The originals were my favourite as a kid.

[Pandasphilly]

Okay -- how old am I? reallly, just old enough for the reruns. wouldn't that be great - Dr. Bombay to pop in with solutions?!

 

once you determine you have specific SNP mutations, is it definite that you should avoid certain supplements -- or is it just as genetic tendencies, that you could be more predisposed to have trouble with it, but you may be okay -- like more of a possibility to turn on that gene, but not definite?

 

do the SNPs cause trouble with processing of certain amino acids?

 

there's not a way i will be able to do the test and know for sure of these mutations before, but i suspect. . . does a CBS mutation and/or Vitamin D receptor mutations indicate more trouble with anethesia or particular anethesia drugs?

 

Dr Bombay? Bueller? Anyone? LLM -- i think it's you!

I can only speak to the anesthesia experience on my end. My ds11 is compound heterozygous with CBS and he is in terrible shape coming out of anesthesia. Phenobarbital had him screaming, raging, crying, staff had to hold him down for an hour, then myself another hour. So next go round we switched to propofol since it has a seven minute half life. We were assured he'd snap out of it quickly without concern. Well clearly he does not detox because after 2 hours of him screaming, talking with an accent, not recognizing me etc, the head of anesthesiology came to us inquiring if this has happened before. They Thought it very unusual at Georgetown.

Third go round of propofol I warned them and no one listened. Since then they've advised us he needs sedatives before he wakes from anesthesia. It was a nightmare for them. It's crazy how long it takes to get out of his system. I hope we never need it again

[tpotter]

OK guys and gals...what is CBS?

[LNN]

CBS stands for Cystathione Bete Synthase. It's the gene in the mid left edge of this diagram - it's at the start of the transsulfuration pathway

 

[smartyjones]

pandasphilly -- YIKES! can you give me more detail about any suggestions they gave you? when did you discover the CBS mutation in relation to anethesia? does your son have any vit D receptor issues? do you have any retrospective thoughts about symptoms that you may now attribute to CBS? did you do 23 and me?

 

can you speculate -- i believe you recently posted about infections you have found through ART, right? would you have any thoughts on if these troubles were related to infections vs. genetic mutations?

 

how is your son doing these days?

 

thanks!

[Dedee]

This makes me so nervous. We haven't gotten my daughter's 23and me results back yet but I suspect she has a CBS mutation based on many symptoms she has and the fact that she reacts so badly to certain medications. She is supposed to have some dental surgery this week under general anesthesia and I am very anxious about it. She had anesthesia one other time about 3 years ago and was somewhat combative when she was coming out of it. However her pain was also pretty bad so not sure if that may have caused some of it. I wish I knew what to do to make things go smoothly.

 

Dedee

[smartyjones]

hey dedee. what is your daughter having done? my ds is to have 2 supernumerary teeth removed. they are already causing trouble as they have inhibitied a loose tooth from coming out -- are looking poised to cause trouble for roots of a permanent tooth, so i don't think there's a way to avoid this -- although i'm still trying to find one. i know we've got to go with general.

 

do you know what they are to use on her for anethesia? i am trying to figure out what might be best. please let me know what you've done in preparation and how things go!

 

good luck!!

[LNN]

My DD may face tooth extraction in the coming years - mouth too small for so many adult teeth. So I did a little googling and found that it's MTHFR C677T that gets mentioned most frequently with anesthesia issues

 

http://www.ncbi.nlm.nih.gov/pubmed/18580170 Influence of methylenetetrahydrofolate reductase gene polymorphisms on homocysteine concentrations after nitrous oxide anesthesia.

 

Yet, DD and I both have MTHFR C677T +/- and we've both had anesthesia for endoscopy/colonoscopy and I've have NO for wisdom teeth extraction without issue. Ironically, my son, who has neither MTHFR nor CBS issues is the one who's gotten upset, disoriented and thrown up on me after anesthesia for his T&A

 

But I did find this article

Anesthesia and the Autistic Child http://www.autism.com/index.php/pro_anesthesia

This was just a quick search. If anyone else finds good advice, please share.

[queenmother]

Another old mom here who watched the original. :-)

The COMT gene is also important to anesthia and pain meds. If you google "COMT and anesthesia", you get several medical articles stating that, because COMT regulates dopamine pathways, the enzyme also regulates pain and pain med. Opioids (morphine-based), in particular. If you have the COMT VAL/MET (as we do), much lower doses of pain medication is needed as it doesn't clear as quickly due to the sluggish COMT enzyme. It is all so very complicated.

Calling Dr. Bombay!!!!!!! And trying to twitch my nose from side to side.

QM

[EmilyK]

Pandasphilly - that anaesthesia description sounds exactly like my younger son who we say is non-PANDAS although myco-p high and with sensory issues and sleep issues from the moment he arrived (10 months). Horrible reactions requiring hrs of restraint after anaesthesia. Now queenmother writes about the COMT regulating pain. This is the same child who feels little. We had an OT eval just shy of his 3rd birthday since he never would report hot, cold, pain, etc. His response to tactile input was astonishingly low. Wonder if that's all the same gene? We are planning to do 23andme soon for both boys seeing we have no biological family history for them.

[Pandasphilly]

QM: Interesting because ds11 is COMT negative on both genes. I would've guessed he'd be positive when I read your post.

 

Dedee: If I recall doctors used General anesthesia for my sons tonsillectomy and he did much better on that than others. What I did not know is that the concern with nitrus oxide is that it inactivates vitamin B12 in the body, particularly if there's a malabsorption problem. But if you're not B12 deficient it should be fine. A good book on dental and other surgery, use of nitrous oxide and it's effect on B12 and MTHFR is "Could it be B12". My son also has bad or extreme reactions to a lot of meds. For instance even low dose melatonin makes him rage like the incredible hulk. I'd say it's odd but I too have heightened reations and slow detox so I get it.

 

Smarty:

My instinct says his reaction to anesthesia is not infection based. If you read the yasko results below it appears there are many positive polymorphisms that may be contributing. Also He's been under anesthesia at different times of his life and it's always been bad. As for his current condition we just did high dose IVIG on Thurs/Fri so we'll see how he does. We had just started ART phase 1 detox & parasite protocol but the ART doctor suggested putting it on hold during IVIG. Felt there was no reason to add that into the mix during infusion. I was seeing some small improvement. I will start again next week. I need to get to an MTHFR expert next so i can wrap my head around the below polymorphisms. My MTHRF doctor is not good at explaining things. Maybe we should start an MTHFR forum within ACN

 

We did Yasko testing (didnt know of 23 and me at the time) and were positive for the following.

 

MTHFR:

compound heterozygos A1298C & C677T

 

Phase 2 Detox: Conjucation of Toxins and Elimination we had many SNPs:

Acetylation, Slow metabolizer polymorphism:

Positive NAT2 R197Q both Chromosomes (affects Liver/Gut)

 

Glutathion conjugation:

GSTP1 I105V one chromosome (affects brain/skin)

GSTP1 A114V one chromosome (brain/skin)

 

Oxidative protection:

SOD2 A16V one chromosome (affects mitochondria)