PANDAS and Genetic mutations

[pr40]

Few days ago I posted a question about PANDAS and MTHFR. It seems that only a few kids had the MTHFR test and are doing the supplements. If PANDAS has a recognized genetic component, what are other mutations you identified?

thanks in advance

[LNN]

I'm in the process of doing 23andMe genetic testing on my kids (sending in sample today). https://www.23andme.com/. This is similar to the testing Amy Yasko does for methylation but 23andMe is $99 and Yasko is $450. The downside is that 23andMe gives you raw data that you have to decipher yourself (or there are people on methylation support groups who will do it for you for a nominal $50 fee). Yasko gives you a report that interprets the data for you.

 

I don't know that I'm going to find any genetic smoking gun for Pandas. (Tho Dr T seems to think he may have found one - but I haven't heard what it is). What I am hoping to find is clues to why Pandas presents the way it does in my kids and how I can best find a detour around issues. In my kids cases, I think Pandas or Pans is the name of the end result of a series of perfect storm issues - methylation issues that prevent the body from handling stressors like infection, detox, proper neurotransmitter production, proper mitochondrial support)... Put these things together, toss in a chronic infection and viola - they developed PANS.

 

In my thinking, I can't change that. I'm personally skeptical that treatments can 're-set" the immune system. I think they can alleviate symptoms from a specific flare. But I'm not convinced they can prevent future flares or change the way the body makes B cells in the bone marrow. JMHO - not trying to start a controversy. But what I feel I can influence are the other factors that go into a perfect storm. If I can find a way to help my son detox better or support my daughter's methylation cycle so she can produce sufficient amounts of serotonin, then other stressors have less of an impact on the system. Like adding sand bags to levees during a storm to prevent catastrophic damage.

 

When I came across Yasko's theories, it just clicked with me. Build bridges over genetic breaks in the road and I can greatly lessen the impact of what my kids struggle with. I know not everyone feels this way, but I've had success with it so far. So now I'm doing the full workup. But I don't think I'm going to find anything that "causes" Pandas. Just mutations that contribute to my own kids' issues.

[beeskneesmommy]

I do not think tbhat PANDAS does have a recognized genetic component. There may be, but the research is not in. We know that there is a Correlation betw. many PANDAS kiddos and the MTHFR mutation, and that there is often a family HX of Strep, RF, SF, but I gthink the jury is still out on cause and effect (likely will be for a long time).

[smartyjones]

Few days ago I posted a question about PANDAS and MTHFR. It seems that only a few kids had the MTHFR test and are doing the supplements. If PANDAS has a recognized genetic component, what are other mutations you identified?

thanks in advance

 

 

my ds showed no mutations on the MTHFR test. although, i show a A1298C mutation. he had pretty classic pandas presentation -- sudden onset, high titers, positive culture and initial 100% remission on abx. we further went on to find multiple other infections. he does show an inappopriate copper/zinc ration - although negative on KPU (we will again test in the future -- some thought that deficient zinc may show neg on that test even though you could really have it -- know anything about that LLM?). he seems to show normal histamine and methylation issues.

 

idk -- could he simply have copper/zinc issues as genetic and that plays this big of a role? seems like not enough. could that be thrown b/c of infection and it really is infection at the root of all the trouble and no real genetic mishaps? are there other yet undiscovered genetic issues at play? seems like it's a black hole.

 

i'd say i thnk along the lines of LLM with pans being the end result of something and i've never been able to understand the 're-setting' theory.

LLM -- i'm going to check out that test -- please keep us posted with what you find. oh great -- dh will be pleased - another test and more $.

[LNN]

Yeah Smarty - I got the eye roll when I told my DH about the test too. But my dad sent me some Xmas money and I told him that I was using it to buy one of the two test kits I needed - as a Xmas present for myself. He then sighed and told me to go ahead and order the second kit too, since he knew I'd end up doing it anyway.

 

No - never heard the idea of a false negative on the KPU test. Since you seem to be having luck just monitoring the copper/zinc balance, seems that's the way to go. Dr Greenblatt (http://www.jamesgreenblattmd.com/) says in his anorexia book that one quick test for a zinc deficiency is a zinc taste test. He has his anorexic patients drink some sort of zinc solution. If it has a strong taste, you're not deficient. If it has no taste, you're very deficient. Mild taste puts you at a mild deficiency. He feels blood tests for zinc levels are unreliable and puts more stock in urine or taste tests. Never took the time to try to corroborate his idea by finding research, but I know that my KPU son takes 4 Core supplements/day and he says they have no taste. My non-KPU DD balks at taking even 1 Core (I try to give one to her when she's sick for the zinc support) and she says it tastes awful. If I take 2/day, they have no taste. If I take 4/day like I should (that's when I feel best and dream best), they start to have an aftertaste. So seems to be true anecdotaly but no idea if it holds scientific water.

 

I'm starting to view PANDAS/PANS the same way I view autism. I think ASD is an umbrella label for maybe a dozen different and sometimes co-morbid issues. One kid may be aspie b/c he has one issue with methylation. Another kid may be severely autistic b/c he has issues with mercury, detox, viruses and leaky gut. But the end result is a cluster of symptoms that get described under one label. I think the same is true for PANS. Similar end-result symptoms triggered by an autoimmune response to infection. But what causes the autoimmune response is, I think, different for different kids. One may develop an autoimmune response b/c a leaky gut caused a break in the BBB. That kid heals his gut and recovers fully (over time). Another kid has methylation defects, a chronic lyme infection and maybe a detox problem. That kid struggles for a very long time and doesn't get well until all the issues are addressed. Both have/had PANS, both need abx to eradicate the infection and prevent new infections during recovery. But the reasons/causes of how they developed the Pandas autoimmune response are different - which means that the recipe for recovery and "cure" would be different too.

 

Some of my friends have kids who've recovered and now only have mild relapses, which the moms stomp out quickly. But the things that got them to that point haven't been enough for my kids. We've had to go on this long, strange journey to get closer to full recovery. Partly due to genetics, partly due to diet, partly due to length of illness, partly due to lyme, partly due to how crazy I am compared to my friends.

 

But if you do persuade DH to let you do the test, here's a good comparison between 23andMe and Yasko http://www.mthfrsupport.com/articles.html Can't beat the 23andMe price - but it will suck in 4 weeks when I have to learn how to interpret the results. Thankfully, there are a few apps you can use and a mom who used to be on this forum just went through this and will be getting lots of emails from me when the time comes.

[dcmom]

I am not hijacking this thread- but just want to say something, which I thought of when reading LLM's post.

 

GGggrrr. The medical community is so frustrating with pandas. I agree with LLM that this is an autoimmune disorder as discovered, and like other autoimmune disorders we are not near a cure. But what is so frustrating is that other autoimmune disorders are accepted so readily by doctors (think lupus, MS, RA), even though (like pandas) we do not yet know their cause, the disease takes different courses in different patients, patients respond differently to treatments, and there is usually an umbrella of symptoms.

[landamom]

LLM - you probably know this already, but I've seen a bunch on the forum who use genetic genie to interpret the results of the 23 and Me tests. I can't seem to get myself to go down this path of the SNPs... Yet. I don't understand enough and I feel like it will blow my head off I look forward to hearing your results because you are the guru of info!! ((Bows down to you)) good luck!

[3boysmom]

Duplication of 16p13.11

 

 

Don't know how important it is because when he is healthy, he is a typical kid. Maybe this is why he gets ill and presents neurologically instead of physically. We are going for mitochondrial DNA testing next.

 

Linds

[nicklemama]

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

[cobbiemommy]

DS, has only one copy (as opposed to two) of the LETM1 gene.

 

 

The LETM1 gene provides instructions for making a protein whose function is not well understood. This protein is active in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. The LETM1 protein may be involved in the transport of charged calcium atoms (calcium ions) across membranes within mitochondria. Researchers suspect that the protein also plays a role in determining the shape and volume of mitochondria.

 

He started supplementation for mitochondrial disorder. We are only on day five, so it is too soon to tell if that is helping. I also share the concerns about opening Pandora's box as it relates to insurance. Interesting thread.

 

Cobbie

[dut]

cobbiemommy - would you mind letting us know what supplements you are using for mitochondrial support.

 

Thanks.

[nicklemama]

dcmom- I'm glad you brought this up. I read Brain on Fire and I kept asking myself why she was able to get a boatload of IVIG, IV steroids, etc..... for a new disease and here we sit still fighting over treatment. Now mind you, I'm glad Susannah got her treatment. antiNMDAR receptor encephalitis can be fatal, but dang it, no one knows what really causes it either. Infection is one thought. Now doctors accept the treatment her very out of the box thinking doctor used on her. Why can't it be like this for PANDAS?

[MomtoJake]

"Can't beat the 23andMe price - but it will suck in 4 weeks when I have to learn how to interpret the results. Thankfully, there are a few apps you can use and a mom who used to be on this forum just went through this and will be getting lots of emails from me when the time comes.

"

 

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!

[LNN]

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.

 

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

[LNN]

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.