The MTHFR gene variant is a genetic mutation that many people have. Studies have shown that up to 50% of the population may be affected. 1
The MTHFR mutation affects everything from the body’s ability to remove toxins all the way to immune function.
It’s especially common for kids who have autism. One study concluded that up to 98% of autistic kids have some form of MTHR SNP (another way to say gene variant). 2
You can read more about MTHFR and what it means and what you can do it about here: MTHFR Made Simple
Today, I want to share how MTHFR can affect your autistic child.
Correlation between MTHFR and Autism
I learned about the correlation between MTHFR and autism a few years ago when our family doctor suggested we test our autistic son. The result came back positive and the doctor had us begin treating him right away.
The results have been almost miraculous. It took some time, but after about a year, it became very clear how beneficial this diagnosis was for Nathan.
My son is now calmer, more focused, he can cope better and is less likely to “meltdown” or “rage.” He’s more reasonable and considerate of others.
Finding out my autistic son has MTHFR was not a magic cure, but it has made an incredible difference for him.
My Family’s MTHFR Journey:
I was first introduced to MTHFR by our family physician about 4 years ago. We were struggling with our son’s behavior issues (at the time, he was not yet diagnosed with high functioning autism as he is now) and we were at our whit’s end.
Our doctor suggested we have a simple blood test taken to look for this genetic mutation. She told us many kids like Nathan have this mutation and it can be “treated” with supplements.
We went ahead with the blood test and it came back positive for Nathan. He didn’t just have one copy of the MTHFR SNP, he had TWO copies of A1298c, one of the two most common MTHFR mutations. This is also known as homozygous A1298c.
The fact that he has two copies of this mutation meant Nathan’s body was functioning at 30-40% of what it should be when it comes to the methylation process (read more about that here.)
I learned that MTHFR can be associated with neurological and mood disorders, including ADHD, depression, bipolar, schizophrenia, autism, and more.
Nathan, MTHFR, and Supplements
The doctor had us start Nathan on vitamin supplements to help him right away:
*approximately 50mcg (yes MICROgrams) of methylfolate
*500mcg Methylcobalamin
We started Nathan on a very low dose (too high can result in detox symptoms) and gradually worked him up to 400mcg methylfolate and 1000mcg Methylcobalamin, which is what he now takes daily.
Nathan takes these two simple supplements every day (except for the occasional day where he forgets) and he has improved SO much that if he does have a bad day, my first question to him is: “Did you take your vitamins today?” and 9 times out of 10, he’s forgotten!
Last year, he was having a great school year until about February when I began getting phone calls and regular emails from the staff, letting me know he was having “challenges.” It was happening consistently for a good month before I figured out that Nathan hadn’t been taking his vitamins! (He was almost 13 at the time and we were letting him take responsibility for it.)
Needless to say, we implemented a new method to help remind him every day (the 7 day pill organizer
Don’t get me wrong; life isn’t without challenges for Nathan. He does still have some rough days, but they been greatly reduced by supplementing to support the MTHFR mutation.
Does Your Child Have the MTHFR Gene Mutation?
The first step is to get your child tested.
Ask your doctor to order a simple blood test for MTHFR.
Be sure to check with your insurance company; many will not pay for it and you don’t want to get sacked with an unexpected bill later. If your doctor isn’t willing to order the test (most doctors I’ve spoken with have no idea about MTHFR; we were extremely fortunate that our family doctor was informed!), you can order a genetic test online through 23andme.com.
23andMe offers a simple saliva test (what kid wouldn’t love to SPIT into a little tube?!) and will cost you around $200. It’s not cheap, but it’s still less than a costly blood test your insurance won’t pay for! Plus, you’ll also get a lot more genetic information beyond MTHFR that can be very useful in treating your child. Just be sure to order the Ancestry + Health kit.
Once you have the results, you will have the information you need to support your child.
Steps you can take to help your child with MTHFR:
Supplements:
One of your options may be to give your child daily supplements as I described with my son.
Be sure to check with your doctor and if at all possible, find a physician who has experience treating MTHFR patients to help you with this. Every person has different gene combinations and those combinations might change the supplement requirements.
To give you an example: I have 2 copies of MTHFR SNPs myself, but I am different than Nathan. I have one copy of A1298c (Nathan has 2) AND one copy of C677T. For me, taking as much methylfolate as Nathan doses causes a detox reaction no matter how slowly I work up to it. I also take a different version of B-12, called Hydroxocobalamin.
Minimize your child’s exposure to toxins.
If your child has one or more copies of the MTHFR mutation, his or her ability to detox will be reduced.
You can help ease the burden on your child’s body by reducing the number of chemicals your child is exposed to.
This can include everything from common household cleaners and laundry detergent to shampoo and sunscreen.
If you haven’t already, you can begin to gradually switch out household items that contain chemicals with more natural options.
One of the first things we did was a change to a more natural laundry detergent. We now use Mrs Meyers
Reduce processed foods and eat healthily
Try to reduce processed foods (the added folic acid found in many fortified foods, like cereal and bread, can cause issues).
Offer healthy fruits, vegetables, nuts, and other good foods that will help nourish your child and reduce “junk” food.
I know this is often easier said than done, especially if your child prefers to eat the same few foods over and over and over.
Go easy on yourself and your child!
You don’t have to change everything right away. Go easy on yourself and your child!
Make small sustainable changes; it won’t do you any good to get overwhelmed!
Remember that MTHFR treatment takes some time to see good results.
It took us about a year before we began noticing consistent positive changes with our autistic son.
For more reading on how MTHFR affects kids with autism:
- Glutathione Pro: MTHFR and Autism
- Autism Parenting Magazine: Treating Genetic Mutations in Autism
- Mommypotamus: MTHFR Gene Mutations: A Beginner’s Guidehttp://www.mommypotamus.com/mthfr-mutation/
carolyn kelley says
Excellent review, Erika! Not easy to preset this and you have done a great job!! Thanks. Are you seeing Dr Oteri for this?
Erika says
Thank you, Carolyn! That means a lot coming from you. 🙂
Yes, she was the one who introduced us to MTHFR – it was invaluable information!
Julie Bryant says
This is such an amazing post. My nephew is autistic and posts like this help me understand him much better. Thank you! Please keep posting about it!
Traci says
Thank you for this!! My daughter is hetero A1298C and I’m always looking for information to help my little one, she’s 2.
Gena says
Erika, I am very aware of the MTHFR mutation and am a nurse and grandmother of a14 year old high functioning autistic child. i had asked my daughter to get the doctor to order this for my grandson who is struggling in so many areas. am a bit confused as you stated your doctor recommended *50mcg of methylfolate and 500mcg of Methylcobalamin (B-12) which you started at lower doses and brought your son up to 400mcg methylfolate and 100mcg Methylcobalamin which would appear is opposite of doctor recomendations as you only show 50mcg as recommendation for methylfolate and that would also make your B12 dose only a fifth of recommendation. Can you clarify and also tell me where you are finding the lower does of these. I am only finding higher doses available. Thank you
Erika says
Gina, we use 400mcg methylfolate broken up into smaller doses. It’s hard to be exact but it worked for us.
I left out a 0 with the Methylcobalamin – we did work up to 1,000 mcg.
Megan Holly says
Hello
I have Factor V and remember something in my testing about MTHFR. I took lovenox injections while pregnant. My youngest was dx with ASD in October. I have 2 sons and they have never been tested. What type of Dr should they see to be checked if they carry the gene?
Erika says
I believe you could see a geneticist, but our family doctor ordered the test for us. It’s a regular lab test and it takes a week or two for the results to come back. I’d recommend you check with your insurance company to make sure they cover the cost first so you don’t get stuck with a bill. Sometimes they won’t pay for it.
You can also order yourself through 23andme.com. They do genetic testing and the raw data you’ll receive later will show if your kids have the gene or not.
Diane says
When you say you gradually increased the dosage on the methylfolate and b12 at what rate did you increase them? How did you know that you reached the effective “sweet spot”?
Thank you in advance!
Erika says
I can’t remember the exact method I used (it was several years ago) but we gradually increased the dose for a month or two until he seemed to be in a good place. Basically, we started at a very small dose and increased once every week or two.
Allison says
You stated multiple times that the MTHFR mutation is tested by 23&me but I am looking over my report (health and ancestry) and CANNOT find anything that mentions the mutation in the report. How is it listed, where is it??? It is not under carrier status, genetic risks, traits, nor wellness. I don’t think 23&me is advisable to find the MTHFR mutation, it is not listed!
I’m having my ASD daughter tested by Genesight later today- they will subsidize the cost of your test; if you have Medicaid or Medicare it is free of charge.
Erika says
Your MTHFR results are in the raw data from 23andme. You can upload the raw data to one of many genetic “decoders” online to find the full results. I used and recommend: http://geneticgenie.org/
Brian Casselman says
Hi, may I ask how old is your son now? We have just figured out our son is within the spectrum, he is almost 3, My wife carries 2 mthfr mutations, we are trying to gather as much information as possible to help him. You article is a great help. We are afraid and trying to stay out of a negative mindset but it is hard. The waiting list to get him diagnosed is long and we are trying to get him help now. We planned to get his genes tested this month. We are looking into Dan doctors as they seem to be on this same path. Any other help or information would be highly appreciated. Thank you so much for sharing this.
Mic says
Thanks for this testimony.
My 11 year old son was diagnosed with Autism when he was 4. Only a few weeks ago we heard of MTHFR mutations. We found out that he is compound heterozygous for the
variants, C677T and A1298C in the MTHFR gene.
We started him on Enlyte-D, which contains:
L-Methylfolate Magnesium 6mg,
Methylcobalamin (B12) 2mg,
Pyridoxal-r5-Phosphate (B6) 25mg,
Vitamin D3 5000 IU,
Zinc Acorbate 25mg,
Magnesium-L-Threonate 25mg.
It’s been a few weeks, we haven’t seen any results yet. Hopefully in a few weeks.
Thanks for this testimony.
It sparked interest to read research papers like these two:
https://www.ncbi.nlm.nih.gov/pubmed/28272116/
https://www.nature.com/articles/mp2016168
Thanks
Mic
Aj says
How was the diagnosis carried out? Did they measure homocystein levels? The pedagogue in our kindergarten suspects that my son (2years) has autism. The physcolog said autism diagnosis starts with age of 3. However, I am molecular biologist. I already had the raw data of his genetic material and i found out that he is compound heterozygous MTHFR like your son. However our pedagogue does not know anyone who is specialized in this. How was it for you?
Erika says
Are you asking about how autism is diagnosed?
Stacie says
You say you have one copy of each gene. I have the same. Can you please tell me what your daily protocol of supplements include.
Nadia says
Check out MTHFR.net. Lots of helpful info there! I knew I had a single mutation during our struggle to conceive. We tested my son at birth in 2014, and my husband, and learned that my husband had 2 mutations, and my son received one copy from him. As a result, we’ve supplemented my son from birth per our doctors recommendations. And we’re all on supplements. My mom also has 2 copies too. We all have various health issues, that are different from one another, and taking methylated supplements helps a lot. I wish this was common knowledge by now, but most people don’t know anything about it. And no pediatricians that we’ve ever worked with.
jas says
My son got the same mutation, was your son very verbal before giving the supplement.
Erika says
I don’t remember to be honest, sorry! Hopefully this helps your son too.