Could it "B"?

Nate has been on methylcobalamin shots since about February.  This is an activated form of vitamin B-12 and it has been found to be helpful to people with autism, especially those with the MTHFR gene (which Nate has).  The dose was increased in May.  We have definitely seen improvements in Nate with this addition, increased eye contact for sure, and slow steady progress in other areas.  The idea of giving shots for many parents is appalling.   I have been able to handle it with Nate- he was so dazed when we first started the shots that he didn't even react to the needle in his bum.  Every once in awhile I'd get a whine, but honestly he cried harder when I wiped his nose- no exaggeration.  As he became more aware, he started crying with the shots, but now he has progressed to being mr. attitude about it.  He runs away, laughing, and then after the shot he rubs his butt cheek while glaring at me just long enough to get his point across and then he goes back to whatever he was doing. 

When we went to see Dr. Brenner last week he stated that since Nate is a "responder" to the methyl-B12 but has not made a ton of progress we should go ahead and increase his dose.  I had been giving him 0.1 cc on monday wed and fri.  He increased it to 0.3 cc three times a week, but since I still had about 6 injections of the original dose he suggested I just double up on those for the next week and then go for the full increase when I refill.  So for the past week I have been doing double shot duty- Natey's poor bummer.  That being said---- there IS a difference.  An aside, these effects tend to take place very quickly, within days.  There are some kids where nothing is seen for up to a month who still end up being responders, but that is not the norm.  Once a child is identified as a responder they need to continue this treatment for approximately 3 years.  It's a small price to pay if you're seeing great improvements.

So back to the changes I am seeing in Nate- more repetition.  He is pointing to all of the different animals in his books when I say "touch _____".  He is choosing between 2 books.  When he was making a turkey at school today he said gobble.  I find him literally staring into my eyes with an intensity I didn't know he had in him.  He is tantruming more, oh joy.  There is just an over all increased awareness.  Then today I saw some physical proof of improvement.  I am not going to go into all of the science of it, plus it's kinda gross, but suffice it to say that many many children with autism have significant GI/poop issues.  It is linked with the MTHFR gene, impaired methylation, which makes sense since other individuals with this gene mutation tend to have diagnoses like IBS and crohn's.  Today, Nate had his first solid, non-grainy, and not nasty smelling poop in I can't even tell you how long.  I did a complete double take.  I know you are all thinking that all poopy diapers smell- I beg to differ!!!  We are talking BAD!  Normal poop smell is pleasant after that.  I believe this improvement is a result of the increased dose of methyl-B12 and the addition of leucovorin last week.  I believe his little system is functioning better.

Despite all of the positives, there has been one negative- and that is MAJOR sleep disturbances.  Now initially I would have said that this was more related to the fact that he is transitioning to a big boy bed, but he had several nights last week when he slept through the night.  The last 3 nights Nate has been up for literally 4 hours in the middle of the night.  And it's not that he was just awake, he was WIRED.  Reminded me a bit of Jack when he is going through a bad sleep stint.  I gave Nate a double dose of melatonin at 3am this morning and it did nothing.  I was starting to feel bummed out, as this can be considered an "intolerable" side effect of the methyl B12 if it persists, so I started googling my little heart out as usual.  Found this in a presentation given at a TACA conference by the foremost expert in methl-B12 and autism.

1. Folinic acid should be added after the first 5-week clinical trial but not at the same time as Methyl-B12. It should be added alone and its dose should start low and then be incrementally increased to see how it is tolerated. From my research, approximately 20% of children become hyper and/or cannot sleep when folinic acid is added.

So we added leucovorin- an even more broken down/active form of folic acid than folinic acid.  Guess what?  I increased the dose on Monday!  Can I say bingo now?  So tomorrow I will cut the dose of this and see if we get some sleep.  I really don't want to have to decrease the B12 when I am seeing so much positive, so I hope I am right about the leucovorin being the culprit.  Keep your fingers crossed for us.

Resources for ya:

http://www.tacanow.org/family-resources/methyl-b12-a-treatment-for-asd-with-methylation-issues/

http://www.drneubrander.com/

Just Keep Swimming

What a crazy busy couple of days this has been.  After yet another migraine filled weekend I was frankly worried that I couldn't get everything done these past few days.  But as always, I muddled through.  Not that the week is over, but the worst is.  Sometimes I feel like Dory from Finding Nemo- Just keep swimming...  At 8:30 yesterday morning we met our family photographer at a park for portraits- while I have been dreading this, it was also hugely important to me.  I wanted to recognize and celebrate our little family and our survival after the past year.  We even did some shots of just John and me, first time we've done that since our wedding.  That part was really nice.  Nate was incredibly fussy the whole time- granted it was freezing outside, but I had both boys layered to the max and thought they were rather cozy.  It was breezy, and Nate even cried when we put him on the swings.  The only ways I could get a smile were to throw him up in the air or alternately squat down on the ground and run at him really fast.  Seriously, I am sore today.  Our photographer Heather is amazing and I am sure she managed to get some good stuff. 

After that we had an 11:30 appointment up at our boys' autism specialist Dr. Brenner. Literally on the drive over Nate developed sure fire symptoms of pink eye- by the time we got there my poor boy was crusty.  That wind must've hurt so much!  Poor buddy.  We hadn't seen Dr. Brenner in several months and I knew the appointment would be jam-packed.  I have to touch once more on just how amazing this man is- he spent over 2 hours with us- now granted he took all of his calls while meeting with us, filled out requisitions and ordered his lunch.  I am completely great with that- his time is valuable and the fact that it was an "insurance covered" visit means that it should have lasted no more than 15 minutes for each child.  Clearly he does not subscribe to this guideline, at least not with his kids on the spectrum.  He went through all the lab results, there were several interesting things.  They do both have the MTHFR gene- as he stated, many many people have this, it's only in the past 15 or so years that it has become a "problem".  There are many theories about this, but the bottom line is that most professionals think it has to do with environmental exposure- BPA, antibiotics, vaccines, contaminated water and soil, just to name a few triggering the issues this gene mutation can cause.  He did prescribe a form of folic acid that is further broken down- leucovorin.  Hearing this medication name made me freeze up for a second- it's a drug I used to give IV to my oncology patients when they were receiving certain chemotherapies.  It basically guards their bodies from harmful effects of the chemo.  That is where this drug is catalogged in my mind.  Time to reframe.  So that was one of the MANY changes he made to the boys' regimens.  More labwork, including urine.  He increased Nate's dose of methyl-B12, asked me to try it with Jack as well.  I am worried sick about giving Jack injections, but it is what it is.  We can do just about anything we put our minds to as a family.  He also prescribed something called MSM for both boys, told me to increase their P5P, start them both on GABA, and start transdermal glutathione.  Oh and just in case I wasn't about to pass out, he would also like me to try adding the Feingold diet.  This eliminates all synthetic coloring, artificial flavors and preservatives and all phenols.  Since we do most of this, doesn't sound so bad- except that phenols are basically in most fruits- apples, berries, grapes, oranges, peaches, plums, tangerines.  Jack's favorite foods. Awesome.  Not feeling the motivation on the elimination of fruits.  Sigh.  Jack's hair samples came back with high levels of mercury.  One of the urine tests should confirm this.  This was the opposite of what I was expecting- thought it would be Nate, if only one of them.  Jack had an incredible amount of dental work about a year ago due to an enamel defect, and now John and I are wondering about what type of fillings they used on him.  Further investigation of this is needed. 

After that appointment, I went home and put in a half day of work.  Went to bed early as today was a full work day, another md appointment for Jack, and squeezing in voting.  Then last night, the shit hit the fan.  Both boys were up off and on all night.  Sleep has been becoming more of an issue over these past few weeks again- Nate has been falling into a pattern where he wakes up at about 2:30 am and refuses to go back down- screaming until I come back in, like tantrum screaming.  I resolved last night that I was going to let him cry it out.  It usually takes 1 or 2 nights to get him back into his usual pattern.  Last night Nate had other plans.  After he woke up and I rocked him for a few minutes I put him back down and of course he started screaming.  Then I heard the usual thuds of him throwing everything out of the crib.  Then I heard a really big thud and a scream.  And Nate was out of his crib.  CRAP.  Just to be sure it wasn't a coincidence, I put him back in and watched him basically swing himself over the bars- no leverage, nothing to climb on, just sheer force of will.  And as I watched him I realized- I. am. completely. screwed.  I have no idea how I am going to keep my sweet baby in a bed.  We all know by know that his receptive language comprehension is extremely delayed, and I just don't think he will be able to grasp this concept.  However, safety first.  So down came the crib today- thank you so much John for doing this so I didn't have to sit and sob while I did it.  We were hoping to eek out another few months of him being our "baby".  It's all so bittersweet. 

Of course we had nothing prepared for this situation- so tonight he will be on his mattress on the floor.  A gracious mommy friend will be letting us borrow her toddler bed for a few weeks until I can get a bed for him. I don't wanna.  Does this really mean I don't have a baby anymore?  That just breaks my heart....

The good news is that this is what happened this evening since he didn't sleep last night....

The bad news is that I have no idea how long this will last, so I'd better hit the hay sooner rather than later.

Isn't he the most precious thing?  Sometimes I wish he could stay little forever...

Naked

When I take a chance in my life, when I allow myself to be vulnerable, I feel naked.  Frankly some of my posts on this blog have been so personal that I would have felt less exposed if I were naked.  And that's saying something.  There have been many times when I have been terrified to hit the "publish" button, afraid of mean comments, too much bad advice, you know, negativity.  It's never happened.  Never.  I have been in relationships in my life where I have felt constantly judged, never good enough, not pretty enough, not thin enough, not smart enough, not shallow enough to be accepted.  I never feel any of those things here.  I actually don't feel any of those things in the autism community in general.  Walking this road has taught me a lot about not judging others, their parenting, etc.  But it has also taught me quite a bit about feeling accepted myself.  It has brought me to a point where I will accept nothing less.  That's what I deserve, and that's what everyone deserves, including our children.  I feel surrounded by loving and supportive people- enough so that if someone isn't able to see me as a person of value, someone worth knowing, then I don't want to know them.  My previous tendency was to try even harder with people who didn't seem to "get" me.  Insecurity central.  And it backfired every time.  I don't have ongoing relationships with any of those people today.  If someone chooses to push my friendship away, hey, they must not want it!  How about that- simple concept, difficult execution. 

Anyway, there is a point to this.  I am incredibly grateful for all of the support, GOOD advice, and general discussions that this blog has generated.  I have enough readers at this point that someone responds to every post- and quite often makes a really good point, or offers support that I didn't know was available. 

My class with Nathan is turning out to be a similar experience.  I am really coming to look forward to Fridays for a whole new reason- I love learning new methods for communicating with Nathan, I always leave feeling incredibly uplifted and motivated.  And the other parents- that's the best part for me.  We are all very different- different ages, backgrounds, etc- but we have such a strong common bond.  As the weeks pass we are all opening up about our children, our families, our experiences with the autism community, different doctors, therapists, etc.  It's a whole new type of education.  There is one mom, whose son is in Nate's ABA class, who I chat with quite a bit.  The group was having a discussion about evaluations, genetic testing and other diagnostic tools and she revealed that her pediatrician told her that she needs to have her 6 month old son evaluated; that he is showing developmental delays already.  This doctor has not even met her older son who goes to a specialist, and was not aware that he is on the spectrum.  She welled up just talking about it.  I seriously wanted to wrap my arms around this woman who I barely know.  If finding out that one of your children has challenges is painful, finding out that another child is affected is excruciating.  All of the thoughts that run through a parent's head- how can I possibly get another child to all of these appointments, how can I possibly afford all of these appointments, what does this mean for my family?  And my heart just broke for her.  She then said that she wants to wait a few months and see if he catches up- my first inclination then was to jump across the table, shake her and say do it now!!!!  The earlier the better right?  But every parent has to go through this period- before they even know for sure that something is amiss- of mourning, of accepting what may be coming.  And I get that.  So all I said was, it won't hurt a thing, or cost a thing to have the school system evaluate him.  And early intervention won't cause him harm.  If they are willing to offer it, we should grab onto that right?  I hope she calls.  I don't know what they would do for a baby that is 6 months old- all I could think of was that if she doesn't call now, and he ends up having issues, she will beat herself up later, or at least I would.  What a huge thing to discuss with virtual strangers- but in that setting, we're not strangers at all.  We are very likely the only people who understand the magnitude of what she is saying.  The only ones who won't say things like "I'm sure he's fine".  Because we all know that statements like that will not make her feel better- nothing will make her feel better except hearing someone with credentials say that her baby is developing typically.  So I am saying some prayers for her and her family tonight, and I hope that you will too.  Pray for her little bambino and the best possible outcome for him.  And thank God that his mom is already so well connected within this community, she knows what to do for him.  While I'm at it, thank God for other parents with similar experiences, and thank God for all of you, who make "baring" it all much less intimidating.  I can't tell you how much it is appreciated. 

Information Overload

Wow.  Today was intense.  No, Frankenstorm has not yet reached us, although intense preparations are in progress- generator is gassed, in the wagon, and aimed at the exit of our garage, extension cords are detangled, we have purchased water, beer, wine, beer, wine, D batteries.  We are ready.

However that is not what this post is about.  I had an amazing opportunity today (as did our entire local TACA chapter) to hear the illustrious Dr. Anju Usman speak.  She is a prominent DAN! doctor who is based in Illinois.  It was amusing really, they turned the lights down at the beginning of the lecture, then changed their minds, worried people might doze, and turned them back up.  This was information for my children- my ears were glued wide open- the only way I was dozing off was if I received a blow to my head.

The main topic of the lecture was the gut-brain connection in autism and various treatment modalities.  All of this is controversial.  The medical community at large has not accepted these practices as of yet, mainstream medicine still considers autism to be a behavior/mental disorder.  Here is the basic definition in Stedman's Medical Dictionary (one of the first texts you are handed in nursing school- or at least in the "old days", haha)

1. A mental disorder characterized by severely abnormal development of social interaction and of verbal and nonverbal communication skills. Affected people may adhere to inflexible, nonfunctional rituals or routines. They may become upset with even trivial changes in their environment. They often have a limited range of interests but may become preoccupied with a narrow range of subjects or activities. They appear unable to understand others' feelings and often have poor eye contact with others. Unpredictable mood swings may occur. Many demonstrate stereotypical motor mannerisms such as hand or finger flapping, body rocking, or dipping. The disorder is probably caused by organically based central nervous system dysfunction, especially in the ability to process social or emotional information or language. Cf.: Asperger disorder

There is of course no mention of genetics, actual medical causes, and certainly nothing about the GI tract in this definition.  In order to start learning about these aspects of autism (and note that I do not say theories, as I believe them to be fact), one has to do their own research, to connect with the right people, to stumble upon an amazing pediatrician like our family did.  Our first pediatrician labeled Jack manipulative and "difficult".  The first developmental pediatrician told me not to bother with any special diets, if I wanted to try anything, B vitamins would be a good idea.  So when we first went to see our current pediatrician and she started talking diets, supplements, blood, stool and urine tests, I was overwhelmed to say the least.  Last fall was a blur of trying to implement everything that was being thrown at me, and then trying to understand why!  And I was a biochemistry major!  Can't imagine how other parents with different backgrounds must feel when confronted with all of this.  I thought our pediatrician was so "radical", and for a general ped she is, but in reality she was just getting us started on the right path.  And I have known for awhile that there is much more that we need to do.  Today just drove that point home a little more.  Consider me once again overwhelmed and confused.  I am not confused about the actual interventions, not even their scientific basis. I don't know what to do first, I don't know what each of my kids needs.  And they are so stinking different.  We go to see our autism doctor in less than two weeks- I will be armed and dangerous when I walk in to his office. 

Dr. Usman went through all of the functions of the GI tract, which was in general a review for me. Then she went in to many of the issues that can cause impairment in the function of the GI tract- bacteria, yeast, "leaky gut" (basically not absorbing nutrients appropriately)- it's all very complex, and if I were on the outside of this situation looking in I would find it completely fascinating.  Instead I find it horrifying- when it's your kid, you're sitting on the edge of your seat, you want too throw yourself at this person's feet and scream fix them, please!  Of course I didn't do this- I was grateful just to hear her speak for 3 hours. 

I am going to try to curtail the amount of information I communicate, as I know I have a tendency to start throwing a million different things out there and making people feel like their heads are going to explode (lol). I will say that the things that she talked about in her lecture touched on almost all of my areas of concern for the boys.  The very first thing she talked about, before she began her own lecture, was the MTHFR gene and research being conducted on this and what they are now calling "cerebral folate deficiency".  This just confirmed that I will be asking the autism doctor for an Rx for methyl folate.  I think the boys need it and I think he will agree.

Other areas that I have new plans for:
Jack's attention- I want to try GABA for him- Lee Silsby, my favorite compounding pharmacy has a cream- how much more convenient can you get when your kid can't swallow pills yet? 
Their guts- I want them retested for yeast (this is at least $200 out of pocket for each of them, sigh).  In fact I don't think Jack was ever tested for yeast- and he had major dental issues last year. This is a sign of many nutritional issues including gluten intolerance, but it can also be a sign of yeast.  He has many of the hallmark signs of yeast overgrowth- I am just so worried about Nate's speech all the time that I feel like I overlooked it.  They both likely need more probiotics and more cleansing diets- ie, fewer processed foods.  Nate may even need more antifungal medication to treat his preexisting yeast. 

There are many many other things that need to be investigated.  So many that I just can't even get into it here yet.  I need to sit down and do some major research.  In between preparing for the hurricane, reading for my More Than Words Class and developing new goal oriented behavioral play plans for Nathan that will be videotaped again soon, trying to keep up with the current interventions, cleaning, doing laundry and going to work.  Oh and cooking the special diets.  And Jack's OT gave me about 5 articles to read today, and "prescribed" several new interventions.  And even our marriage counselor handed us articles on autism and interventions this week- everyone is getting in on the action :).  I don't believe in cloning- except, right now, for me.  I need two of me.  (Ok Helen you can be cloned right now too, and Jo you too) I am glad that I feel overwhelmed by valuable information and the number of interventions that I want to try for the boys.  At least I am not lost, at least there is something I can do.  Man, I really need to make some lists!  

Sending some prayers to my two dear friends mentioned above.  You have both been so incredibly supportive of my family, and I will do anything I can to support either of yours.  Love to you both and wishes for a smooth next couple of days- you are always in my thoughts. 

More Answers=More Questions

Ughh.  When it rains it pours on my happy little "I can handle autism bubble".  Grrrr....

I have been chasing one of the boys' doctors for weeks, trying to find out if he has the results of all of the labwork we did after our last visit.  I didn't necessarily need to have the results, just wanted to make sure he would have them in hand at the appointment we have the first week in November.  I have never worked with a doctor who comes to the phone when you call.  He sat looking through their charts himself.  So I still don't know if he has everything- I really wanted to know if he had the results from the hair samples I sent off.  He was still looking and was going to call me back later this afternoon- just like 2 weeks ago.  Frustration is mine.

Anyway, while he was looking for those, he happened to pull up some other tests that we did and said, oh I see that both of the boys carry one genetic mutation.  Casually like that.  Hey buddy, this is kind of big news for us, care to elaborate a bit more?  So then he told me that the mutation has to do with the way their bodies metabolize vitamin B12 and folic acid.  And then he said he would call me later.  And that was it.  Now mind you, I was already freaking out because of poor Jack's experience at school today, so I don't know that I was emotionally equipped to take this in right now.  Swear to God that I was having palpitations.  Genetic mutation?  That sounds scary.  Oh Google.....

I googled folic acid and genetic mutation.  Thinking maybe it's rare, maybe I won't find anything and I will just have to wait for our appointment.  That's NOT what happened
https://sites.google.com/site/drjoneskids/mthfr

The mutation is called MTHFR (and I find that extremely appropriate)  Ready??

"MTHFR is a common genetic variant that causes a key enzyme in the body to function at lower than normal rate.  This can lead to a variety of medical problems, when people with MTHFR are exposed to more toxins than their bodies can handle."

"The worst combination is 677/1298 in which you are heterozygous to both anomalies.  Many chronic illnesses are linked to this anomaly.  98% of autistic children have an MTHFR anomaly.  Fibromyalgia, irritable bowel syndrome, migraines, are all conditions associated with MTHFR anomaly." 
"MTHFR can make you susceptible to illness because the pathway is the primary source of glutathione production in the body.  Glutathione is the body's primary antioxidant and detoxifier.  People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxins."  

Well smack my ass and call me Sally!!!!!  My husband has crohn's I have migraines.  My whole family has migraines.  Hmmmm....

Treatment consists of simple vitamin supplements --- FolaPro L-methyl tetrahydrofolate by Metagenics, OR, 5 tetrahydrofolate or methyl folate.
Longevity Plus, H.R. T. Plus with 5-tetrahydrofolate.
Life Extension, optimized folate (5-MTHF).
OR prescriptions like:

*Deplin/ 7.5 mg l-methylfolate 

OR 

*Metanx-L methyl folate calcium (as Metafolin) 3 mg, Pyridoxal 5` phosphate 35 mg, methylcobalamin 2 mg. 

OR 

Methyl B-12 injections

The vitamin supplementation is lifelong.

We have already taken some first steps down this road- which tells me that this must have been suspected (not exactly rocket science when 98% of people with autism have this mutation).  We have Nate on Methyl B-12 injections.  We have him on folinic acid.  This is folic acid that has already been partially broken down.  However, if he is not able to break it down from this point then it serves no purpose.  It is very likely that he will need methyl folate.  So that is my first question at our appointment in November.  Frankly, since this is Dr. sink spitter as all of my readers have come to fondly refer to him, I am tempted to call him between 7 and 8 am tomorrow, but I don't want to abuse his willingness to go above and beyond..  Hopefully he will call me back about the other labs and it won't be an issue.

So I feel like this should be being discussed a bit more in general?  Is that unreasonable?  98% of people with autism?

For instance:
Molecular Aspects of Thimerosal-induced Autism
http://www.healthyanswersonline.com/articles/DrRichardDethTestimony.pdf
“Summary
The developmental disorder autism has both genetic and environmental origins, and its forty-fold increase during the past two decades reflects an increased role for environmental factors. It has been proposed that increased use of vaccines containing the ethylmercury derivative thimerasol is the major contributing factor. Published research from my laboratory has revealed that thimerosal is an exceptionally potent inhibitor of biochemical pathways that transfer single carbon atoms between molecules. These “ methylation ” pathways are critically involved in several important functions including the regulation of gene expression and the molecular mechanism of attention. Recent studies from my lab indicate that thimerosal exerts its toxic effect on methylation by interfering with formation of the active form of vitamin B12, also known as cobalamin. Dietary B12 must be converted to methylB12 (methylcobalamin) in order to assist in the transfer of single-carbon methyl groups from the folic acid pathway by the enzyme known as methionine synthase. By reducing methylB12 formation, thimerosal inhibits this enzyme and thereby interferes
with methylation events. Autistic children have abnormal plasma levels of methylationrelated metabolites and exhibit higher frequencies of genetic mutations that affect this pathway. These genetic risk factors make them less able to detoxify thimerosal and also increase their sensitivity to its mechanism of toxicity. In many cases, autism can be effectively treated by the administration of methylB12 along with other agents that augment methylation capacity. Taken together, these facts indicate that increased exposure to thimerosal has combined with genetic risk factors in a sensitive subpopulation to cause the recent rise in autism.”

Or,
Folic acid fortification started heavily in 1992.[2]
Autism began to quickly rise in 1993′s.

In the early 1990s, autism diagnoses began to soar. In the 10 years between 1993 and 2003, the number of American schoolchildren with autism diagnoses increased by over 800%. In 2006, the CDC noted a slight decrease in the number of new cases diagnosed.[3]

Autism began to rise at the same time folic acid fortification began.
Is the rise of autism due to an increased survival rate of babies with MTHFR defects?

Countless children with autism have at least one bad allele of MTHFR – and many have two. Amy Yasko has yet to see any child with autism without a bad MTHFR allele. If you have – please correct me. [Amy Yasko's book]
Are we doing the right thing in ‘optimizing pregnancies’ when in the end, we are actually creating weakened genetics and having babies born with various genetic mutations that cause them to have serious medical conditions later in life – or early on.
Folic acid supplementation while pregnant is old news.
Women need to supplement with L-5-MTHF and Folinic acid – not folic acid.
http://mthfr.net/folic-acid-fortification-increase-in-mthfr-and-rise-in-autism/2012/05/11/

OK, I am throwing a lot of stuff at you.  Bottom line is this stuff makes scientific sense to me.  Consider my interest peaked and my research hat on.....more later

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