What the Heck Is the MTHFR Gene Mutation? And What Does it Have to Do With Autism?

The term MTHFR (methylenetetrahydrofolate) may sounds like a “bad word,” but it isn’t.  It is just an acronym for a very important enzyme our bodies need.  The MTHFR plays an important role in the methylation cycle.  Cutting edge research has clearly linked impaired methylation problems with autoimmune conditions like autism and so much more. The good news about if your child has the MTHFR gene mutation, it can be treated with medications like Leucovorin or Deplin.  These prescription medications have the potential to help the body produce the neurotransmitters that are necessary and important for developing speech.  For my son, who is now an aerospace engineer, Leucovorin was life-changing.

I’m not a doctor and sometimes this medical research is way above my head, but I’m going to try to explain the MTHFR gene mutation. in simple Dr. Mom terms.  If you have the MTHFR defect, your body has trouble processing folic acid. When this enzyme isn’t functioning properly, as can happen in an estimated 30-60% of the population, it can cause many medical problems and life-altering issues.  Researchers have discovered that this gene, among many others are associated with autoimmune disorders like autism, recurrent miscarriage, birth defects, strokes, neurodegenerative disorders, blood clots, heart attacks and so many other medical issues.

If a child has the MTHFR gene mutation, their immune system doesn’t function properly and they have trouble eliminating the toxins we are all exposed to.  Toxic substances (like the heavy metals used to preserve vaccines) can create problems in a compromised immune systems. A simple blood test ordered by your pediatrician will help you know if your child has the MTHFR gene mutation.

One of my mom’s sent me this adorable picture of her son to share and gave me permission to tell you about how Leucovorin helped her son. I never share names, but love to share the success stories!!!

After I helped her find a doctor near her location. The doctor did a simple blood test to see if her son had the MTHFR gene mutation.  Then this informed physician prescribed Leucovorin to counteract the effects of his MTHFR gene mutation.

Mom reported, “[Our Boy] …started Leucovorin in Dec at a very low dose. Two weeks ago we doubled it, and his language exploded.”

Now for the fun part of this success story…

Mom said, “We are so happy with his progress. Yesterday…. he told a kid…. “Chill out”…. and today… he told me “Whatever.” He has a bit of a ‘tude…. and an impressive sense of humor. His eye contact is awesome. He is interacting so much more.”

This “Warrior Parent” is the shining example of what I hope my book “I KNOW YOU’RE IN THERE”can do our kids on the spectrum. This mom took the information I shared in the book, put her own spin on it, and ran with it. (The book can be previewed on Amazon or on my website www.autism-and-treatment.com)

All of us want our kids to have more speech.  And we are constantly searching for that “instant cure.” We think that if only our kids could only talk more, our problems will be solved.  But that isn’t exactly true.

Although more speech does reduces frustration and does improve behavior, it doesn’t solve the real medical issues.  Even if we could wave a magic wand and fix the problems with our children’s immune function, it is important to realize it takes a “healthy and typical” kid three years to become proficient in speech.  So don’t use speech as an indicator that the biomedical treatments are working.

My wish every year when I blew out my birthday candles was that Ryan would talk more and have just one real friend. I longed for a time when could actually tell me what he was thinking. After helping his immune system function better, my son was able to learn what he couldn’t before.  Treating his MTHFR gene mutation with Leucovorin was part of making that happen. Ryan has always been under a doctor’s care. Regular blood tests are given to insure none of the meds he takes cause any damage.

Autism is complicated and it took many things combined to reduce “the total load” on my son’s broken immune system.  Recovery is a long process.  Ryan is now an aerospace engineer.  But when he was in middle school, even I didn’t think he ever completely recover. My dream back then was that maybe someday he could hold a job at McDonald’s and live independently.  Who knew he could accomplish all he has?

When I first asked Ryan’s doctor about adding Leucovorin to the mix he said a large portion of the population have the MTHFR gene mutation, and I don’t think this will really change anything. Then he added, “If it’s not broke… don’t fix it.” That’s when I asked him if we could try it anyway.

It was Ryan’s improvement that taught our physician about the benefits of the medications that improve methylation.  At that time my son was already  working as an engineer and I wasn’t sure he could really improve much. I knew Ryan was doing great, but after starting this med, his sense of humor exploded. A developed sense of humor is higher level thinking. Now Ryan keeps us laughing all the time.

Last month, when Ryan asked his doc if he could stop the Leucovorin, his doctor answered…absolutely not!!! And it is also important to note one of the children this medication helped didn’t test positive for the MTHFR. I’m not a doctor, only Ryan’s mom, so I don’t fully understand why that is true. Now Ryan’s doctor prescribes it for all of his patients who test positive for the MTHFR gene mutation! Sometimes even moms and dads teach our amazing docs a thing or two along the way.

NOTE FROM MARCIA HINDS – Megan and Ryan’s mom:

Ryan became an aerospace engineer, because he received proper medical treatment combined with behavioral, and educational interventions.  To preview my book, “I Know You’re In There – winning our war against autism”go to Amazon or my website www.autism-and-treatment.com