Methylation and B12

I started writing this blog weeks ago and finally finished it today. As most of you know, Porter has been seeing a doctor in Halifax who specializes in autism. His name is Dr. Rade and he really knows his stuff. One of the things he suggested was genetic testing for Porter. This was to see if Porter had any gene mutations that would impair his methylation system.  Not sure what that is? Me neither! Hang on and hopefully you will better understand in a minute.

We ordered the testing kit through https://www.23andme.com/ and then had the fun task of collecting Porter's spit...yes, SPit.  Because our boy will not spit on his own, I had to take a sponge that looked much like a q-tip and swipe the inside of his cheek and then squeeze that spit into a vial until we filled it to the line marked. That was fun. Actually, he did pretty good considering I chased him around for an hour and stuck that sponge in his mouth every 30 seconds. I tell you, when I reached that magic line , I felt like I had really accomplished something! 

We sent the kit off in the mail and waited patiently for the results. As it turns out, Porter has several gene mutations that could play a huge role in his autism. To be clear, this isn't the direct cause of his autism , but more what has made him vulnerable by impairing his methylation system. Basically, if you have an impaired methylation system you are far more vulnerable to environmental toxins. 

Here are the results, with Dr. Rade's notes. The ones that have a -/+ sign beside them indicate a gene mutation.

So to understand why this is such a big deal, it is important to know why methylation is so important. 

Methylation is defined as:

" the addition of a methyl group to a cytosine residue on double-stranded DNA , a process which plays a major role in gene expression and preventing restriction endonucleases from cutting DNA at their recognition sites. "

SO now that that is 100% clear, let's move on...hahaha... just kidding, the next paragraph explains its importance to the nervous system and it makes it a little clearer...although I am kicking myself for talking so much during biology class:)

 

"For one, our nervous system is intimately linked with the methylation process so that nerve function is highly dependent on proper methylation. You may have all the messengers your body requires yet if the proteins making each nerve's insulation are not methylated, you won't have proper communication between the nerves. This is similar to having frayed electrical cords with highly vulnerable, exposed wires and is the impetus for many of the symptoms of autism, CFS and MS. "

 

Methylation is responsible for:

• RNA and DNA (genetic material responsible for every function in the body)
• Immune system regulation
• Detoxification of heavy metals and other harmful substances
• Making GLUTATHIONE (the body’s main detoxification enzyme responsible for removing mercury, lead, cadmium, arsenic, nickel, tin, aluminum and antimony)
• Production and function of proteins
• Regulating inflammation

"Dr. S. Jill James (who has recently received a NIH - National Institute of Health - grant for her research) has shown that children with ASD have impaired methylation and decreased levels of glutathione.  Supporting and/or repairing the underlying impairment and deficiency translates into increased social, cognitive and language development.

Dr. S. Jill James has also shown that children with ASD have 80% less glutathione in their cells and 90% have defects in their methylation.  This means that children with autism cannot effectively fuel the brain and detoxify heavy metals and other harmful substances from their system."
 

So now what? Well, the first step was to start giving him B12 supplements.

"The brain is the only part of the body that depends entirely on B12 to detoxify.  As the the brain is over-burdened with toxic substances, the “wheels” of methylation slow, severely impacting development."

"What are the benefits of MB12 treatment?  Enhancement in executive function:

• Awareness
• Cognition
• Appropriateness
• Eye contact
• Responsiveness
• Normalized behaviours and interaction

Promotion of speech and language:

• Spontaneous language
• More complex sentences
• Increased vocabulary

Improvements in socialization, understanding and expressing emotion:

• Initiation and interactive play
• Understanding and feeling emotions
• Affection and tolerance to touch

Undesired effects to B12 therapy are a good sign of treatment success.  They are not uncommon and include:  

• Hyperactivity
• Self Stimulating Behaviour
• Increased mouthing of objects
• Sleep disturbances – which can be managed with other treatments
• Aggression, hitting and biting - caused by frustration due to increased awareness 

*Side effects can be mild to severe and are considered transient which means they will pass as  treatment progresses*

MB12 is a treatment, not a cure.  However, many children using MB12 combined with other biomedical and non-biomedical therapies make incredible developmental gains and in a small percentage of children, have had their ASD label removed."
 

We noticed an improvement right away and right now we are only giving him Hydroxy B12 and folinic acid, which when combined with the B12 helps improve his glutathione levels. The next step will be to move to methyl B12 but his doctor wants to make sure his body can handle it properly, as there can be some undesirable side effects. There are so many benefits in using B12 and we have seen them already! We have noticed an improvement in his language and a huge increase in his effort to try to communicate..he is trying sooooo hard! We have also noticed a genuine increase in his interaction with us and his overall awareness has improved as well. When I try to explain how, it is hard, it's just something you have to be here to see...like for one small example, he has started objecting going to bed on some nights. Some might think that is a bad thing, but for us, we see that as our little boy coming out ...what 5 year old wants to go to bed at bedtime? 

Of course we have noticed the undesired effects also, which at first made me wonder if it was even worth it, but when I read the info. above , I realized that that means it is working!! 

So that is where we are right now...trying to slowly repair his methylation system and praying that it continues to help him be able to communicate with us better. I have a good feeling about this, I really do. I hope this has helped explain why we are trying the biomedical approach. I know there are people out there who probably think this is all a bunch of quackery, but to me, it is real genuine science. And real genuine hope.

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On a completely different note, just realized it is my Mom's birthday. She would have been 65. Hope you are celebrating big up there! Love you.

Porter starts Kindergarten and Broken Bones!

 

So it finally happened...our boy started Kindergarten! Every year in September I get a touch of "first day jitters".  But this year, I hardly slept a wink before that first day! And it took until lunch time before the knots untied in my stomach. This year my boy was starting school too.

Of course it went great, I knew it would:)

However, it just so happened that his first day was cut short. He had an appt in Charlottetown and had to leave before recess. The week before he had been climbing ( one of his most favorite things to do) on a play kitchen and fell. After a trip to the emergency room, and three X rays later, the diagnosis wasn't complete. They could see a line, but his elbow was also full of fluid so it was hard to tell for sure, could be a fracture OR a bad sprain. He went home with a half- cast and a sling with an appt. the following week to have it checked again. I couldn't have been prouder of the way he handled the whole visit. We were there for more than 6 hours all together, not to mention he had a broken bone!!  It is times like this when I realize how far we have come.

Luckily there was a sink in our waiting room. Our boy could watch water run all day long!

So the following week, on that very first day of school, Daddy picked him up right before recess and off they went to the Fracture Clinic to have it checked. Daddy said he was the bravest boy ! He left with this blue, waterproof, cast. He has to wear it for 3 weeks. He is handling it waaaay better than I would. Have I said how awesome this kid is?

So it has been a little over a week since that day. We are beyond proud of how well Porter is doing in his new big boy school! He has a great team of support, wonderful Educational Assistants and his autism consultant spent the first two days with him at his new school. How could it not go well?? He has had a few moments here and there, but haven't we all? He is making new friends, learning new things and I have no doubt in my mind that great things are going to happen. I can't wait.