MTHFR mutations - add us to the list

[Suzan]

So dd11 has been diagnosed with 2 mutations of MTHFR through her new LLMD. I don't have the lab work in my hand yet so I don't know what the mutations are. LLMD is putting her on the methylated supplement for it. dd10 and I need to be tested now. Has anyone found that your regular doctors will run this test? We have appointments in 2 weeks to find out. But wondering what your experience was and if we should just to to the ones I see on line for $100 - $200? dd10 and I don't have an LLMD at the moment.

 

Thanks,

 

Susan

[LNN]

I'd order the 23andMe spit tests for all three of you. The first kit is $99 and if you order other kits at the same time, those are 20% off, so you could do all three of you for $260 and get 990,000 snps. You can then run your data thru a free online app called geneticgenie (incredibly easy) and get a full methylation report - including MTHFR but also 2 dozen other gene mutations that can be equally important to methylation and neurotransmitter balance and detox. The down side is that it takes 7 weeks to get results, but worth it IMO.

 

When I first had DD tested for MTHFR and we treated her mutation, she went from bi-polar to pretty stable. But the 23andMe helped us find additional mutations that have huge impact on detox, heart disease, hearing loss, and other things. A traditional PCP may order the MTHFR - its easy enough and most commercial labs test for it. But 23andMe is the most economical and doesn't require a doctor.

[Suzan]

LLM, thank you! Your experience is helpful and I'm very glad to know how this test helped. I was reading up on it yesterday and wondering how that might be different than what we got. I got a script today for dd10 to get the MTHFR test from her neurologist and he ordered additional testing for dd11 for homeocystine and something else but it still sounds like this 23andme test would be beneficial for us. I didn't realize it didn't require a doctor to get the test. Our neurologist is fantastic and I just learned is opening his own practice for autism, pans, etc. so he will be a great compliment to dd11's new LLMD and be able to help dd10 as well which is great since my area is very lacking in this type of support.

[LNN]

Yes, still do the 23andMe. You won't get the biggest bang for your buck if you treat MTHFR in isolation. You get much better results and long term health benefits by looking at a bigger picture.

[Suzan]

LLM.....

 

dd10 has 2 copies of a1298c

dd11 has 1 copy of c677t and 1 copy a1298c

 

Do you have any resources I should be reading to learn more about the two types? 23andme tests soon to be ordered!

 

Susan

[LNN]

I'd start with this: http://www.heartfixer.com/AMRI-Nutrigenomics.htm and then re-read it when you get your 23andMe results back. I'd also read Yasko's book http://www.dramyyasko.com/wp-content/files_flutter/1327512160_9_1_1_8_pdf_02_file.pdf or watch her video http://www.autismone.org/content/dr-amy-yasko-presents-assessment-metals-and-microbes-function-nutrigenomic-profiling-part-1- but it will make a lot more sense once you have your results and know which topics to really pay attention to.

[Suzan]

yowza! Ok, thanks, I'll try to dive into this later tonight. I have ordered the testing for us.

 

Susan

[Suzan]

Hey LLM! So we are still waiting for our MTHFR results back (only in phase 3 so still a ways to go). In the mean time, dd10's neurologist tested her for factor 5 defect due to her MTHFR defect and it came back positive. They are referring us to a hemotologist and seemed very concerned. They don't know much about the defect except for what you read on the internet. To me, it does not seem like there is anything to do about it now but to just be aware for the future.

 

Is this something you are dealing with and have more insider information? I don't know if it's a sign of some other issue or just what it appears to be which seems like a hemotologist at this time (with no signs of blood clots) is a waste of money. Unless maybe it's for education and future planning, preparation??

 

Thanks!

[nicklemama]

Suzan- the MTHFR and Factor 5 Leiden are implicated in clotting issues and repeat miscarriage. It's good to know now. Most women don't know they have this unless they have repeat miscarriage. It's something an OBGYN would test for. She likely will need to take a blood thinner during pregnancy to keep from miscarrying. Birth control pills may not be an option for her, given these two mutations. The hematologist will know more and guide you. I'd go ahead and keep the appointment.

 

Given that she has two copies of 1298, you can safely assume you have at least one.

[LNN]

We've never tested for this but someone else here has this - you may want to start a new thread or search on "factor five" - there was some discussion a while back. I can't imagine them putting a child on a blood thinner, tho it's good to know pre-pregnancy. Do you know the name of the gene of the snp? I'd like to be able to go check our 23andMe results out of curiuosity.

 

They may feel they need to make a referral for the reasons you list - education, planning. I think it's one of the risks of genetic testing and one reason docs don't want us all rushing out to get tested. You need to be prepared for the knowledge you uncover. Would be interested to hear what others have found when they explored this one.

[Suzan]

Great, thanks you two. I will start another to see what comes up. This is what I get when I search 23andm3 and factor 5. I quickly read through but will need to read more.....

 

https://www.23andme.com/health/Venous-Thromboembolism/

 

Due to my miscarriage and infertility history, of course I wonder if I have this issue too.

[nicklemama]

I would say likely given what is now known for you DD.

[Suzan]

LLM, I PM''d you. We got our 23andMe results back this morning. Pretty sure I have heterozygous combined MTHFR like dd11. Looking for tips on what SNP's to look up now and where to go next. Thanks!