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.