nefferdun
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I just got the test results today. I have 15 (out of 30) mutations. I am heterozygous for 13 and homozygous for two; CBS A360A and NOS, both of which cause a lot of ammonia to build up especially when you eat meat.
I am hetero for MTHFR C677T. I have 2 COMT, 2 VDR, MAO A, ACAT, 3 MTRR, 2 BHMT, and SHMT.
It is overwhelming - so complicated. I thought they were supposed to send treatment recommendations but all I got was a list of supplements for each mutations - which looks like hundreds of things.
I was reading in heartfixer that with one mutation you might normally need one thing but when you add something else, all that changes. So I need more input.
Anyway I am glad to know this much and surprised (but not really) that I am this "messed up".
Has anyone else gotten their results yet? Has anyone else consulted with anyone about their results? I wonder if heartfixer does telephone consultations.
-------------------- old joke: idiopathic means the patient is pathological and the the doctor is an idiot Posts: 4676 | From western Montana | Registered: Apr 2009
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tickled1
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Which test did you do?
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nefferdun
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I did the complete methylation panel which costs $500.
Although I was taking methylfolate everyday, it seems that is not my main problem. In fact it is not even recommended that I take it. One of my biggest problems is an inability to assimilate B12. I am supposed to take 6 forms of B12!
The biggest problem is the CBS/NOS homozygous mutations which create so much ammonia. That requires a vegan diet low in foods that have sulphur/sulfites, like kale, spinach, soy etc. I need to flush the ammonia out with charcoal, yucca and some other things. I can't remember the specifics of how and why but these mutations cause brain fog and excitability.
These supplements are very expensive. The ones to address the specific mutations can be $85 for two weeks - each one - and there are many.
I don't make enough vitamin D. I have reduced serotonin, dopamine levels. I am at high risk of cardiovascular disease.
Very complicated and very messed up.
-------------------- old joke: idiopathic means the patient is pathological and the the doctor is an idiot Posts: 4676 | From western Montana | Registered: Apr 2009
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P.S. If you really produce too much ammonia then it can definitely cause problems. Hubby had this problem the first time he did IV Rocephin. That caused an overgrowth of bad G.I. bacteria such as klebsiella which produce ammonia.
It usually hit him more after supper at the end of the day -- if he ate meat he would become confused and have problems stiffening up and have worse Parkinsonian tremors. At that time the supplements did not help -- but oral levaquin fixed the problem by killing off the bad G.I. bacteria.
Hubby had his ammonia blood levels tested a few times -- can't remember the numbers but they were elevated for 5 months until he tried the levaquin. If your ammonia is extremely elevated the technical diagnosis is hepatic encephalopathy -- you can read up on symptoms of that.
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tickled1
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Wow, I was thinking of getting this testing done but now I don't know.
I did get basic MTHFR testing done and am homozygous C677T. That is bad enough. I don't know if I could take the news that I'm more messed up than I already know I am, nor could I afford the supps!
In addition to homozygous C677T I also know I have KPU, HLA-DR types that don't detox mold and Lyme very well. Also came back very deficient in amino acids.
I hope you can find a way to sort this out Nefferdun. That was very expensive testing and I'm sure that you will find a realistic way to apply the modifications to you. Can you sit down with your doctor to find a way without spending crazy amounts of money on supps? That's just not realistic.
That's the thing with some of these tests. They give recommendations for optimal results but the recommendations are not realistic financially.
Just like one of my doctors telling me to get IV glutathione twice weekly at $75 a pop! Who can afford that?!
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nefferdun
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I am going to make an appointment with heartfixer. That is $500 more for his guidelines on how to approach this. Luckily I can afford it. I just have to copy the CD and send all my medical records to him to review. That will be such a relief. I had a ton of blood work done in January.
I called Yasko's site and was told there is an online discussion group that offers help for free. I sat down and figured out what I think is the basics of what I should do but there is no point doing this half way, so I am paying the expert.
Besides that, it is so complicated (just look at heartfixer.com) that it would take a bachelors in science to begin to understand it. I have gone over and over just the CBS mutation for months and am just grasping that gene.
You have to put these all together. It is like chemical reactions. Just because you have "x" mutation and would normally take "y" to treat, if you throw in the "c" and "e" mutations then you can't simply treat "x" with ordinary "y" anymore. You need special "y" and there are two kinds - which one?
I am very glad I did it. It is amazing science. I sure would not discourage anyone from getting it done because you can learn a lot and fix a lot with what you can afford. Just taking the right kind of B12 if you have MTRR and quitting sulfates and animal products if you have CBS/NOS would make a huge difference.
Yasko does not advocate animal free. Heartfixer does and I prefer his view point because I am also treating protomyxzoa. He has a PHD and is a surgeon. In addition my son has diabetes and should not be eating meat, especially red meat, so I want a doctor that encourages this.
-------------------- old joke: idiopathic means the patient is pathological and the the doctor is an idiot Posts: 4676 | From western Montana | Registered: Apr 2009
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posted
Thank you for posting this info, Nefferden.....I am waiting for the Yasko test results and also the Methylation Panel results, as well as other tests, from Vitamin Diagnostics.
Would appreciate hearing what you think about your consult with heartfixer......I may want to consult with him, as well, when all the results come in.
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tickled1
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Yes, thank you so much for all that info. You are right, it is too much and too complicated for us to handle on our own.
For the appointment with heartfixer, is that in person or over the phone or online? Would you mind PMing me his contact info?
Please keep us updated with all of this as you go through it.
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sparkle7
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I guess the question that I have is... does knowing all of this actually help? Have others gone through it & did they feel better after doing all the complicated & expensive supplements?
It is good to know what to avoid, though. It's a shame to spend alot of money on stuff that doesn't work or isn't necessary. I don't know if enough is known about how to fix the genetic mutations.
How do we know if we take something - if it's really working?
Dr. K suggests to do the KPU first - prior to methylation. Has anyone done this?
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tickled1
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You may be right sparkle that having that info initially may still boil down to detox. Maybe that is why my LLMD wants me to start with coffee enemas and liver flushes despite having MTHFR, KPU, and HLA-DR.
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TerryK
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Neff These are my test results from 2008. I had 14 so I know how you feel. This info has been very useful for me, can't say it will help others.
One things for sure, the CBS issue is a major bottleneck so that is the first and most important thing to deal with.
I personally think it is best to incorporate all the Yasko recommended treatments for CBS before starting to treat the other mutations. I also added BH4 to my regime in order to help get rid of ammonia. Now I use sparga (nutrimedix) off and on along with bh4 and sometimes I add charcoal flushes. I do well with the sulfur/ammonia issues unless I have to add meds that exacerbate the problems with this mutation. I found that a lot of diabetic meds cause me problems and they seem to be problematic because of this mutation. As I recall, this mutation is connected to diabetes.
While I was treating the CBS upregulation first, I went through every item on the list of recommended supplements and consolidated them because there will be many duplicates due to the fact that you likely have a number of mutations that need the same supplement. Hope that helps to explain it.
I do not take the really expensive supplements that Dr. Yasko sells because I don't think I need them AND they are too expensive for me. I may try them at some point if I feel I really need them.
I got a book with my test results that shows the results of several of the mutations combined. Look for some of the combinations that you have in order to see how they affect each other.
I researched Dr. Yasko's thoughts on my mutations and then I looked for research from mainstream medicine to see what double blind studies they had done so that I could try to understand the impact these mutations might have on me.
Some of figuring out which supplements you need is a trial and error except for the big ones like the folic acid, b vitamins and bh4/cbs supplements.
I also had muscle testing to see what results that yielded. I then tried to incorporate the treatments that I felt were helpful or necessary.
This has made a big difference for me. I personally think Yasko's testing is the best around but it does take more research. That said, there is (in my opinion) more potential for getting at the actual problem using her testing.
posted
I think Dr. Lynch can help with interpretations and suggestions ,,,Also Dr. RVK...PM me for info...
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Razzle
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I'm homozygous for the CBS C699T mutation, and I have 2 other homozygous mutations, plus 8 heterozygous mutations on the Yasko test panel.
And I also suspect that I have a SUOX or MOCO variant that isn't tested...Yasko only tests for the most common SUOX variant, which I didn't have.
But I have a very severe case of sulfite intolerance/sensitivity...my tolerance threshold is very, very, very low even though I take tons of B12 and molybdenum.
I'm currently hoping the next LLMD I'm scheduled to see (end of Aug.) has a clue about these mutations (he claims he does) because it is too confusing to figure out what supplements to take in the setting of all my other intolerances/allergies/sensitivities.
But I do agree the CBS variant is the critical variant to deal with first before the others. Heartfixer's website is excellent and I've had to read it over and over to really understand all the great info he has packed on there.
I hope he is able to help you with these variants - glad you are getting to consult with him about it.
-------------------- -Razzle Lyme IgM IGeneX Pos. 18+++, 23-25+, 30++, 31+, 34++, 39 IND, 83-93 IND; IgG IGeneX Neg. 30+, 39 IND; Mayo/CDC Pos. IgM 23+, 39+; IgG Mayo/CDC Neg. band 41+; Bart. (clinical dx; Fry Labs neg. for all coinfections), sx >30 yrs. Posts: 4166 | From WA | Registered: Feb 2011
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nefferdun
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He gives his results in a written report. If you want a phone consultation is costs more. I do better reading than listening so I hope his written report will be all I need. heartfixer.com
I was not taking enough B12. Since taking more of it, I am already sleeping better.
To those of you that wonder if this really makes a difference, I believe it is critically important. One of the mutations I have causes you to overload iron. That feeds babesia. It can also damage your organs.
Another mutations causes hypercoagulation which also makes the perfect storm for bacteria. The medications cannot penetrate deeply into the tissue, you cannot detox well, and biofilm builds up in it.
Not being able to assimilate B12 has a huge effect on your health mentally and physically. I also have a mutation that affects my ability to produce vitamin D. This all weakens the immune system.
How can I fight when I am so weakened by the mutations? Taking the supplements and following the diet restrictions will bypass the blocks and I will begin to function more normally. That is the only way I can be healthy.
I was very worried about dementia because my mother had it and my memory has been failing for years. Several of these mutations are related to it - such things as iron overload, B12 deficiency, hypercoagulation all contribute to it. They also cause fatigue, so even if I got rid of lyme I would never be well.
I am at high risk of heart disease which I never realized. Taking care of the mutations will prevent me from developing that problem.
It is amazing science.
-------------------- old joke: idiopathic means the patient is pathological and the the doctor is an idiot Posts: 4676 | From western Montana | Registered: Apr 2009
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nefferdun
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Terry and those of you that have had the test, and those that haven't, this is all very individual. Heartfixer describes it as "individualized medicine". It is taylor fit to our specific quirks.
I have spent countless hours on here trying to find "the cure". Even when you are fighting the same infections as someone else, that does not mean you will respond to the same medications. This is why.
It is inevitable that we will spend a fortune treating lyme. I remember when I first started treatment and read about the staggering amounts of money people had spent trying to get well. They were still sick. Here I am over four years later and I have spent much more than I ever imagined possible.
So taking that into consideration, getting this test is a very small drop in the bucket. Whenever anyone is sick with anything, this test is what I recommend first. I think people should have their children tested as infants even when there are no obvious problems. Why have your child diagnosed with ADD years down the road or react to a vaccination and get autism?
We live in a highly polluted world and need all the help we can get to stay healthy.
-------------------- old joke: idiopathic means the patient is pathological and the the doctor is an idiot Posts: 4676 | From western Montana | Registered: Apr 2009
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sparkle7
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I agree. All of this is important. I just don't want to jump on every bandwagon that comes along. I've done that & wasted alot of money on stuff that didn't work. It wastes alot of time, too.
This genetic stuff is in it's infancy. It's all trial & error - same as always. Some of this is genetic but alot of it is also environment. It's similar to the "nature vs. nurture" agruement with child raising. They are finding alot has to do with nurture as opposed to nature.
Genetics can be altered with substances. Who knows how much of this has to do with pollutants in the environment...? Maybe things we come in contact with alters our genes? Could be a pathogen like Lyme or maybe it's laundry detergent, pesticides, heavy metals, fungus, viruses, or GMOs?
There's epigenetics but there's also neuropsychoimmunology... The placebo effect cannot be understated. I always heard that fibromyalgia is the millionaire's disease. We all are different. The possibilities are infinite.
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TerryK
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I don't know what the placebo effect has to do with methylation testing and treatment. If you have lyme + methylation issues you WILL feel better if you get treatment.
Lyme is one of the most toxic infections around. Add to that the toxins that we are all exposed to on a daily basis and we are in big trouble if we have untreated methylation issues.
Terry I'm not a doctor
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TerryK
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Just to clarify
sparkle wrote: This genetic stuff is in it's infancy. It's all trial & error - same as always. Some of this is genetic but alot of it is also environment. It's similar to the "nature vs. nurture" agruement with child raising. They are finding alot has to do with nurture as opposed to nature.
IF you test that your body can't convert folic acid to a usable form (some of the MTHFR mutations) then you need to supply your body with a form that is usable. Folic acid does a LOT of things. You need only look up folic acid and it's functions to understand why you will be in trouble without enough of it.
If you are pregnant it is even more important. Read about neural tube defects. My sister's grandchild has 2. We didn't know until after she was born that this even existed. OBGYN's will test for this if you ask because they know it is very important to treat if you have certain MTHFR issues and you are pregnant. When my daughter's OBGYN found out about my MTHFR test results she immediately tested my pregnant daughter.
Fine tuning is often trial and error especially if you don't want to spend the amount of money necessary to treat all your genetic issues.
Yasko has been treating using blood tests to guide her in making treatment decisions for 10 years so she has some good clinical data about what works.
Terry
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posted
Ok, so what I am hearing is that you go to Yasko and get the test done. Then you send your results to heartfixer, who interprets them for you. Is that correct?
Do you need to be a patient of heartfixer?
I went to heartfixer.com and looked at a sample report. I'm still not convinced it is simple enough for me to understand. Plus, it appears that you may need more than one consult, like you deal with your primary issues first, then move on to other issues.
I would like to get MTHFR testing done, but if it is too complicated and won't help me practically, then it may just be a waste of $500.
Any opinions or advice?
Posts: 707 | From Colorado | Registered: Jul 2010
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posted
Ok, so what I am hearing is that you go to Yasko and get the test done. Then you send your results to heartfixer, who interprets them for you. Is that correct?
Do you need to be a patient of heartfixer?
I went to heartfixer.com and looked at a sample report. I'm still not convinced it is simple enough for me to understand. Plus, it appears that you may need more than one consult, like you deal with your primary issues first, then move on to other issues.
I would like to get MTHFR testing done, but if it is too complicated and won't help me practically, then it may just be a waste of $500.
Any opinions or advice?
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posted
Up
Posts: 707 | From Colorado | Registered: Jul 2010
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nefferdun
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I am waiting for my report for heartfixer so I can't really answer your question yet. It takes a month to get his report back. You get information from Yasko but it is just basically computerized and does not consider interactions.
-------------------- old joke: idiopathic means the patient is pathological and the the doctor is an idiot Posts: 4676 | From western Montana | Registered: Apr 2009
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sparkle7
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The placebo effect is real - so, it is possible that someone could take a supplement & feel better...
I really wanted to believe that the abx would help me. I couldn't tell a herx from an adverse side effect - so, at first - I thought they were helping. I really wanted to believe that they were helping. After 9 months - I decided that they weren't helping. At first - I wanted to think that they were.
I'm not talking about the problem with folic acid & pregnancy. That's a different issue. I don't doubt that these things are important. If it was an absolute cure for these odd illnesses that many of us have - more people would be posting that it works.
I think this approach can be useful but it's all trial & error - even if you spend thousands...
I guess one could try the simplified methylation protocol - by Rich Van K. I tried it but I can't tell if it's making a big difference. I guess I have to continue it.
It's gets confusing after a while to try to tell which this is causng what. Could be metals, viruses, parasites, pathogens, genetics, allergies...? All of these things could be subtle or overt.
For me - the anti-parasite protocols seem to make the biggest difference. Everyone is different, though.
Posts: 7772 | From Northeast, again... | Registered: Oct 2006
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posted
Thanks for the responses. Nefferdun, will you let us know what you think once you get the info from heartfixer? Thanks tons for all you've already shared.
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nefferdun
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I will. I hope to get it soon. I am also waiting for my son'a results from Yasko.
I am much better - on a low fat vegan diet as well as stromectol and LDN. You have to be committed to this.
With the CBS mutation it is better to be on a vegan diet which is much cheaper than eating meat so you save enough money there to cover the supplements.
So this is very doable once you get past the initial expense of the testing. You don't really need heart fixer's recommendations but he can tweak everything out.
The thing to keep in mind is these mutations never change. You will always have them so once you get this worked out for you, you don't have to redo it ever again. You can get blood work to see how you are responding and how metals are, but you never need to retest the mutations.
It also will warn you of other potential problems such as my risk for heart disease or stroke, and the problems your children may have inherited. If I had know about these mutation 5 years ago, I believe my son would never have developed diabetes.
It isn't placebo. It is cutting edge science.
-------------------- old joke: idiopathic means the patient is pathological and the the doctor is an idiot Posts: 4676 | From western Montana | Registered: Apr 2009
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tickled1
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What are some ways to address the ammonia buildup? I am thinking this could be a cascade of events for someone with that issue and think that could be the case for me.
I have terrible dysbiosis which has been going on for years. Am I getting this right, from what bea said, that that ammonia buildup can predispose someone to bacterial overgrowth in the gut which leads to further ammonia buildup? I have tested positive for klebsiella in the past.
If the ammonia buildup due to the genetic mutation leads to bacterial overgrowth in the gut and that bacterial overgrowth leads to other problems like leaky gut, d lactate acidosis, food allergies, malnutrition, immune deficiency and so on then correcting the genetic mutation, or working around it could prevent or correct these diseases that result.
I guess you are right that this is cutting edge and all gets back to why some people become chronically ill and some don't that are exposed to the same things. It really does come down to genetics, doesn't it?
Makes you wonder if Lyme and Co. are really the issue or just became the issue b/c of the genetic mutations. I've been thinking lately that if I can get control over my gastritis and dysbiosis that that could be the last big piece of the puzzle. Sounds simple but clearly it's not. It's a multi-layered problem and would require a complete lifestyle change which I'd be happy to do if I knew where to even start.
Did you say you are on parasite treatment and are doing better on it? Have been thinking this could be part of the issue with me. Does anyone know if Hepatone Plus by Designs for Health addresses parasites at all? I thought someone once told me it does.
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CD57
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up
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canefan17
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Dr Rich Van has updated his methylation protocol.
He now recommends Thorne Research Advanced Formula V
It has active folate and other good minerals without all the fancy stuff like NAC, ALA, methione, and others that sensitive people respond poorly to.
He likes lecithin still and B12 sublingual (or drops by holisticheal)
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nefferdun
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I am still waiting on heartfixer. It has been over a month so hopefully it will come soon. I am also waiting for the results from my son's methyl cycle panel test which they got April 4th.
tickeled, I am taking stromectol for protomyxzoa and on the low fat vegan(ish) diet. I also take LDN. It has gotten me close to well very quickly.
This is what I am taking for the methyl cycle mutations.
Neuro health formula phosphatidlyserene Vitamin D (VDR -/+) hydroxy B12 and intrinsi B12/folapro (MTRR -/+) folapro (MTHFR -/+) yucca (CBS+/+) charcoal (CBS +/+) vegan diet, low sulfates (CBS+/+) GABA NOS RNA formula (+/+ for NOS) CBS RNA formula MTRR RNA formula Co enzyme Q10 (energy) Carnitine (energy) CBS/NOS Kidney support molybdenum
I have urine test strips for sulfates which remains as high as it gets >1600. I think I need BH4
-------------------- old joke: idiopathic means the patient is pathological and the the doctor is an idiot Posts: 4676 | From western Montana | Registered: Apr 2009
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Catgirl
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quote:Originally posted by nefferdun: I am heterozygous for 13 and homozygous for two; CBS A360A and NOS, both of which cause a lot of ammonia to build up especially when you eat meat.
Fascinating stuff Neff! I read this a month ago, but now your connection with this and the protomyxzoa makes perfect sense.
Jlp38, if you just want to know about MTHFR gene, I got mine done through quest (came back positive--hetero).
Tickled, I am curious with your dysbiosis, do you follow a strict gluten free diet?
-------------------- --Keep an open mind about everything. Also, remember to visit ACTIVISM (we can change things together). Posts: 5418 | From earth | Registered: Mar 2011
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MichaelTampa
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quote:Originally posted by canefan17: Dr Rich Van has updated his methylation protocol.
He now recommends Thorne Research Advanced Formula V
It has active folate and other good minerals without all the fancy stuff like NAC, ALA, methione, and others that sensitive people respond poorly to.
He likes lecithin still and B12 sublingual (or drops by holisticheal)
canefan -- I've been looking for a better B12 supplement than I've been using, and really wanting it to be drops. So I took a look at holisticheal's website. Turns out they have B12 drops in hydroxy form, adenosol form, methyl form, and even a combo of adenosol and hydroxy form. Do you happen to know about this .. why one would choose one versus the other?
I've always heard the methyl is better than the cyano forms, but not too familiar with hydroxy and never heard of adenosol form. I do have the MTHF mutation, and perhaps that means the methyl form is best, but don't really know that. They've got to be offering the other forms for some reason.
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Haley
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Neffer - where do you get urine strips to test sulfates?
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