PANDAS and Genetic mutations

[smartyjones]

I did 23 and me for myself and my son. And for those of you who don't know, you get much more info about Methylation many SNPs -not just MTHFR mutations. Not quite as much as Yasko but for 99$ it is darn good! I put our results through Genetic Genie (super easy) and had a phone consult with Dr. Tim Jackson (not an MD) who interpreted the results for us. It cost about 400$ total for both of us and he went through EVERYTHING. And I will get a written report. Well worth the $- I found out so many things that make sense for both me and my son and have a step by step plan to follow of how to supplement, what to avoid etc for each mutation. The results matched up with our symptoms and for my son especially confirmed why some supplements in the past worked and why some didn't or made things worse when we were "throwing things against the wall to see what stuck".

 

LLM PM me if you want to chat about this. I think you will be VERY happy you did 23 & Me!

 

 

momtojake -- what do you get on the report? more than the sample on the webpage that says "substantially higher risk" or "normal risk"?

 

i think it sounds interesting but i am a little skeptical -- honestly, only b/c of the $. long ago, when ds first presented, one of the docs we saw was a naturopath. she told me when she was first practicing, she ran many tests and still finds the info very interesting. . .however, she now only runs tests that are going to influence the way that she treats. it's great to have the info, but it's costly. so, i'd love to see the info - but what would i do with it?

 

LLM -- what are you hoping/thinking to find?

 

thanks.

[LNN]

Yasko spends a lot of time talking about the various mutations she's found that effect methylation and more importantly to me, neurotransmitter production/balance and detox functioning. Treating my daughter's MTHFR has helped a lot. But she still complains of chronic fatigue. Her blood work for anemia, thyroid, infection - all show normal. So it has me thinking there's still a methylation block. By treating mthfr, maybe we just moved the block downstream. But while her mood is far more stable, she often doesn't enjoy activities with the energy she should have. She tires easily yet often takes a long time to fall asleep. She doesn't wake feeling refreshed. Does she have a problem with amonia/Krebs cycle? If so, we can work on that. But I'm too broke at this point to keep throwing supplement spaghetti at the wall to see what sticks.

 

So I'm hoping to see if there are other mutations that can be addressed - if something else is a road block.

 

For my son, he struggles to detox any time we get too aggressive on lyme treatment, struggles with brain fog despite IQ testing that shows above average. I know both zinc/B6 and phosphatidylserine have helped his brain fog significantly - both Core and PS100 have been awesome supplements for him. But I want to know if we can find any mutations that can help with detox, prevent tics from showing up when we use tindamax, and maybe get another big gain in the brain fog department. Each leap has been significant but we're not totally there yet. But with recent cognitive testing, I feel validated that the gnawing feeling I've always had that he was "trapped" inside is real. It's not just mom wanting her son to be someone he's not. So I'm on a hunt to remove a few more road blocks.

 

You know me - give me a handful of enzyme abbreviations like COMT, PST, CBS, MAO - and I'll be a happy camper for months. Some people like to curl up with a good harlequin. I like to snuggle with my laptop and put epigenetic puzzle pieces together.

[MomtoJake]

MomtoJake - yes, I will definitely PM you once we get results. How long did you have to wait for the results? Hoping for the 4 week wait and not the 6 week wait. 4 weeks in my birthday, so would make a perfectly geeky birthday present.

 

 

Got our results in 2 weeks!!!

[dut]

LLM - is it a mouth swab or blood draw for the 23 test? If blood draw did you get a dr to sign off on the draw or could you get it drawn without?

 

And thanks for the info re health ins and genetics. That aspect worried me also. Even though I could see getting the tests doen without a drs knowledge and thus manage no permanent record, I was concerned that if my kids had knowledge of the results and failed to inform etc etc that there may be some legal duty to inform and consequent removal of coverage or something... so thanks for the info.

[LNN]

It's a spit test. You need to spit into a vial about the diameter of a blood draw vial and fill it with about 1/2 inch of spit. The web site says it takes an adult about 5 min. to complete. My kids - the ones who've endured blood draws, pex, ivig, colonoscopies, endless pills, urine tests...they both whined like I was putting bamboo shoots under their fingernails. It's spit, for gosh sake. Under any other circumstance, they'd have been happy to spit. Took 'em each about 20 min of complaining but it got done.

[dut]

too funny my dd, too. We did a combined test Gi , candida etc that needed some spit. She can do blood, poo in a platic hat thingy but I just couldn't get enough spit out of her to do that bit of the test.. non stop whining...

 

now ds.. he'll just spit for the fun of it.. sometimes to the point of looking ticcy but that could just be my PANDAS rampant mind in action

[MomtoJake]

momtojake -- what do you get on the report? more than the sample on the webpage that says "substantially higher risk" or "normal risk"?

 

 

There is much to explore on that report and can give you some good information, but the report itself does not cover Methylation specifically. What you do get is access online and downloadable access to all of your raw data for your DNA. The raw data you can put into the Genetics Genie for free and get a report of the specifics SNPs that are associated with Methlyation etc. Also there are people who know how get info on your own from the raw data, so I am looking into learning that.

[MomtoJake]

now ds.. he'll just spit for the fun of it.. sometimes to the point of looking ticcy but that could just be my PANDAS rampant mind in action

 

 

LOL, my DS DID have a spitting tic a year ago! I had to take him to his Ped for asthma symptoms and she, a PANDAS believer, was fascinated and brought her nurse practitioner in training in to see him in action. The nurse was quite baffled by the whole thing! Needless to say, My DS thought spitting for the 23 and me test was awesome! (Spitting tic thankfully short lived and gone a long time ago!)

[nicklemama]

LLM- I don't have complete trust that it will never be disclosed. I addition, I can't see far enough down the road for DS. Lastly, it's his info and if I upend a can of worms and it comes back to him as an adult in any negative way, I'm the responsible one. Still, I'm thinking about doing it. I'm just trying to see all the angles before I pull the trigger.

[cobbiemommy]

I'm back and forth on 23 and me. I have some concerns about the insurance aspect of uncovering genetic mutations and /or susceptibilities.

 

I've heard this concern from others as well but I'm not sure I understand it. I'm paying for this test out of pocket and without a doctor's signature - no insurance company or doctor will have a record of my ordering this test. Second, I've selected the "do not share" option for the test. So 23andMe cannot share my info with other researchers outside of the company or on the member forums in an aggregated form. Third, after I get the results and digest them, I'll submit a written instruction telling 23andMe to permanently delete my records. Granted, during the few months they have access to my data, they can pool it into current research, so there is a small risk my family data will still get out there. But I think getting an idea of how to fix various issues outweighs this risk.

 

Finally, in 2008, congress passed and Bush signed the Genetic Nondiscrimination Act which prohibits the use of genetic information in health insurance and employment. The Act prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future. The legislation also bars employers from using individuals' genetic information when making hiring, firing, job placement, or promotion decisions.

 

Dr. T ordered the "mito cocktail" which includes coenzyme q-10, carnitor (l carnitine in prescription form), thiamine, riboflavin, vitamins c and e, folic acid, and creatine powder. We have only started the coenzyme q10 while we wait for the medicine to be compounded. It is helping though.

 

So I can understand a certain angst about having very private data be stolen/abused but I'm not sure I fully understand your concerns. Can you help me out (sincere question - even tho it's too late for me to change my decision).

 

Landamom - thanks. I do know about genetic genie - just haven't explored it yet and suspect I'll still have to do an awful lot of leg work - can't see why 23andMe can't at least translate the results into some understandable format in the first place. But I guess that's the extra value Yasko adds for the additional $350 for her test. If I only had one kid, it might be worth it. But with two, I can't afford the $700 for someone else to do the interpreting.

 

Cobbie - I too would love to know what you're doing for mitochondrial support and if it's helping...if you don't mind sharing

[cobbiemommy]

We will be using creatine, theanine, Coenzyme Q10, and Carnitor. I believe those are all the ingredients.