SNP results, help for my daughter?

[alicec]

So maybe I’m putting too much emphasis on all of this.... I guess I’m just desperate to help her and I have to believe there is a biomedical component somehow.

I think you are putting too much of an emphasis on the importance of common SNPs and have been confused by the simplistic understanding of so-called "methylation" issues that proliferate on the internet.

There undoubtedly is a very significant biomedical component but it is far more complex than "treating" a few SNPs.

I have no particular insight into autism, but many PWME find supplements of various B vitamins, particularly B12/folate and others involved in energy metabolism, are very helpful but this has little to do with SNPs. It is more that widespread metabolic derangement seems to be a hallmark of this disease and sometimes such supplements act as stimulants to pathways that are adversely affected in that individual.

Similar metabolic problems may exist in your daughter but SNPs are not the cause and a simplistic SNP analysis will not give any particular insight into them. Sometimes OAT tests can give some insights into metabolic slow points.

Unfortunately it is often a trial and error process to find the helpful supplements.

ETA I'm not saying that SNP analysis is useless. It can be helpful in identifying SNPs and SNP combinations which are likely to have noticeable consequences. However most of the SNPs commonly identified in analysis programs have little or not effect.

The B12 SNP you are concerned with is one with small effect. In combination with an MTR SNP which your daughter doesn't have, it would be more significant.

It is not likely to be influencing blood B12 levels as you seem to think. By the way these are normal - at the high end of the range but not elevated. The whole point of a normal range is to reflect the natural variation in a parameter. You daughter's value fits into this natural variation.

Further tests such as MMA would be needed to determine if there are hidden B12 problems.

There is no easy short cut with SNPs unfortunately. The programs which just indicate a variant is present are not helpful. Quite a bit of research is necessary to identify the ones that are likely to have noticeable consequences.

 

[nanonug]

Just to clarify increased ATP (through co factors such as Thiamine) is what will allow b12 and other essential vitamins to be used within the cells themselves?

That's pretty much it, yes.

 

[Ladolcevita]

So unfortunately within the past few days I’ve noticed my poor baby is shedding a little hair. The only thing that’s changed in the past 2 weeks was the addition of TMG.

In light of everything I’ve learned just on this post, it doesn’t seem she even needs TMG at all or any real help in methylation if her homocysteine is at a 5. Her urinary homocysteine is not even detectable. I think I’m making things worse by focusing on what works for many, may not work for her... and to echo some of the previous posters, focusing on SNP’s that in her case are probably negligible. Although I’m still conflicted about her plasma b12... the homocysteine tells me she must be methylating properly and the tiny bits in her multi are more than sufficient. Hopefully this is the right call.

I didn’t know TMG could cause hair loss but did a quick search and apparently it can effect the testosterone / estrogen ratio and provoke this in sensitive individuals. In any case I’m going to stop the TMG and have to hope the shedding lets up.

 

[Ladolcevita]

I also plan to bring her stool results to our pediatrician and see if antibiotics are the answer as everything is high across the board for bacteria. Good and bad. I wonder if our bio med doc didn’t emphasize it because he assumed her high level of good bacteria was enough to keep the bad stuff at bay, or believes probiotics and biocidin are enough. Who knows.

 

[Wayne]

and see if antibiotics are the answer

Hi @Ladolcevita,

Just a word of caution: antibiotics can have some very serious "side effects", or what I sometimes refer to as "life-altering effects". Please research carefully any recommendations regarding antibiotics for your daughter--who may be more susceptible to their side effects than most children. -- All the best to you and your daughter as you try to navigate this incredibly difficult and sometimes perilous road you're on.​

 

[Ladolcevita]

@Wayne

Noted. I will have to weigh the pros and cons and see what is best for her. I appreciate your well wishes

 

[JES]

Would potent probiotics have any benefit here to naturally rebalance all these nasty strains? I know you said in your case your son needed antibiotics, was this based on the +4, or more thorough testing?

You might want to contact Ken Lassesen (blog) with your child's result, he's a probiotics guru and can often give useful suggestions for given microbiome profile. Often the common probiotic mixes aren't very helpful, but there may be specific probiotics that can be very effective. If anything, it should at least be safer than antibiotics.

 

[Ladolcevita]

@JES
Wow what a wealth of information on this page, he is a genius!!! Thank you so much for sharing. Triphala and Azithromycin seem to be the top recommendations based on her bacterial strains. I will look into this further and hopefully get her on the right path. The probiotic strains in her gutpro do not seem to cause any negative interactions based on her results.

@Nine lives
Do you remember if Azithromycin was the medication used for your sons Kleb?