Nate- New Interventions, Side Effects, and Hope

Just wanted to give you all a quick update on Nate.  He has been on his fluconazole and flagyl for approximately 10 days now, and the mitochondrial cocktail for 5 days.  He is taking all of these like a champ.  We have gotten very lucky in that regard as he has accepted them all in his juice.

Side effects, let’s see.  Sorry squeamish readers, but he is having REALLY stinky grainy loose stool.  This is a sign that the fluconazole may be working.  He also has been extremely stimmy, which is another sign of what is called “die-off”, basically a worsening of those symptoms because of the by-products of the yeast dying.  So it’s a negative thing that hopefully will lead to improvement in the long run.

As an added bonus, Nathan has not slept through the night since, umm, last Tuesday night I think?  He is my sleeper, so this really stinks.  This could be one of two things- more die-off symptoms, or something in the mitochondrial cocktail is having some effect.  Only time will tell if that is a positive or negative effect.  It could be “awakening” of some neural connections, or it could be that one of the supplements in the cocktail is very activating to him and cause some hyper stimulation.  We need to wait it out for now, as no matter what is going on, this side effect could be a transient one.  Or, if there are a lot of other more positive effects, this side effect could be helped with melatonin and may be worth dealing with.  Either way, when he is awake at night all he wants on earth is to be “squeezed”.  Arms, legs, feet, you name it, he wants deep pressure.  He has also been more fussy- possibly lack of sleep, but he also seems to be over-stimulated more easily.  He had a rough time at his grand mom’s house yesterday- lots of crying, didn’t eat a thing, grabbed my hand and led me to the front door (time to leave mom), etc. 

Have we seen anything really good?  John and I are saying this- Nathan is having a “good week”.  His speech, not necessarily increased, but definitely more consistent.  His little attitude is alive and well.  My dear John, devoted daddy that he is, continues to try for “night night” from Nate each night.  Tonight, he was leaning over Nate while he did this, giving him some deep pressure, and Nate pushed his leg onto John’s arm, smiled behind his thumb, and instead of night night, said “kick”.  Little stinkerJ.  Also, the other day, I handed him his juice and he just very casually said “thank you”.  These are definitely positive things.  And that is as far as I am willing to think right now.

I went through another phone interview with NIH today.  It made me cry, what else is new.  They were asking developmental questions for a good 30 minutes.  How often does he nod his head yes- never, how often does he wave- never, does he use at least 5 words a day- sometimes, how often does he respond to his name- sometimes, how often does he engage in imaginary play- never.  OK, so I have to admit that the interviewer made me laugh twice.  She would ask all of these serious questions to which she received pretty depressing answers, and then would wrap up the line of questioning (and in her defense she was clearly reading from a script) with something like “do you feel that Nathan uses the typical amount of language for a child his age?”  Or the kicker “have you ever had developmental concerns about Nathan?”  Seriously?  Nah- he's just introverted?!? 

So that’s where we are for now.  Mommy is finally getting a bit of relief from a migraine that was closing in on 6 days.  Which has been happening about 3 times a month the past few months.  I got a new migraine script today from my PCP and a referral to a neurologist.  In addition, after listening to all that has been going on she insisted on writing me a prescription for Xanax (HA).  She was like “and why do you not have this?  Like every day?”  That part was a bit of a joke, but she’s right, there are times when it’s just necessary and contrary to what I would like to believe, I am not wonder woman.  Just feel a bit sorry for the kids, because this mama is so drug naïve that if I take it at bedtime, it’s going to take a lot of noise to wake me up!  Anyway, hopefully this will help.

Are The Tides Turning for Nathan!

Wow, it’s been an eventful few days on the Nathan-front.  In a good way.

I spoke with the study coordinator at NIH yesterday and it IS a drug study.  The medication involved is Aricept. 

NIH did an initial study on this medication.  The purpose of the study was to look at abnormal sleep patterns in children with autism, and then determine if the addition of Aricept can normalize sleep.  Children with autism are known to have issues with sleep, but even those who don’t wake up all night (ahem, Jack) often have abnormalities- significantly decreased periods of REM sleep.  REM sleep is thought to be crucial to normal brain development, and lack of it is thought to lead to many of the behaviors associated with autism.  So of course the hope is that if these cycles are normalized, brain development can occur and thus the symptoms will decrease.  This first study was TINY, but there have been other studies done at other institutions.

http://intramural.nimh.nih.gov/research/pubs/swedo04.pdf

Here is the study we are invited to join (or at least be screened for):

http://www.clinicaltrials.gov/show/NCT01887132

I am very interested in this.  Jack is taking memantine on study with Children’s National Medical Center.  Both of these medications are labeled for Alzheimer’s currently, and researchers have even started to study the effects of these two medications when given together (for alzheimer’s).  Initial studies are suggestive of a synergistic effect.  Meaning that when given together, the effect of each individual medication is increased.  This all sounds great, but I am concerned and still have many questions.  I have requested to speak with the physician conducting the study and am waiting for a call back.  My main concern is that this study, unlike the one Jack is participating in, has a placebo group.  And the study period is long- 18 months.  If we are unable to add other medications, or if we are told particular interventions are not allowed during this period, it would make me think twice about joining this study.  18 months of development in a young child with autism is an eternity and things can change so much in this period of time.  I am not willing to potentially sacrifice this time and have him receive no drug.  The study also includes 3 2-night sleep studies, which would mean hospital stays for me and Natey.  Not a huge deal, but I want to be able to view the results.  I hate it when tests are conducted for “research purposes” and the parents are never told what was found.  For instance, when we did the SEED study, they took Nate’s, John’s and my blood to study for genetic abnormalities.  We are not privy to these results which really just annoys the crap out of me.  If I am putting my child through these potentially uncomfortable procedures, I want to know the outcome.  Nate would have to demonstrate an abnormal REM sleep pattern in order to qualify for the study.  My first inclination was that he would not be the child of mine to study regarding this issue, but according to the research assistant, the fact that he appears to sleep well says nothing about his REM sleep.  So we shall see.

Next….

I finally obtained the results of Nate’s urine amino acid testing yesterday, and….

He has SEVERE yeast issues and also has clostridia (a bacterial infection in the gut common in children with autism).  This goes back to the whole theory of autistic children’s symptoms appearing or worsening after repeated rounds of antibiotics in infancy.  The normal gut flora is destroyed (and these kiddos have decreased ability to tolerate or compensate for this) and thus opportunistic infections occur.  Yeast is known to increase autistic symptoms.  A little more information on this:

http://www.tacanow.org/family-resources/what-is-yeast-overgrowth/

If you read the information in that link you will see that Nate demonstrates most of the behaviors associated with yeast.  I have suspected or honestly, intuitively known that this is an issue for a long time.  The doctor has even empirically treated him for yeast in the past, clearly to no avail.  So what do we do about this?  Well, we double his probiotic and we start fluconazole.  Again.  I have a feeling we will be on several courses of this.  It’s a stronger medication than nystatin.  His symptoms have temporarily improved in the past when he was on nystatin, but the minute we stop we are right back where we started.  I need to work on cutting sugar from Nate’s diet- which is extremely difficult in a child with such a picky palate.  We also will be starting Nate on flagyl for the clostridia.

As if this wasn’t enough, there are several metabolites out of whack in Nate’s testing that could indicate some other abnormalities; further testing is needed, but interestingly he has an extremely low level of CoQ10, which is something contained in the mitochondrial cocktail we are about to start.  This level and several other data points are indicative of some type of metabolic problem or mitochondrial disorder.  I need to get further information from his doctor on this, because other than the infection information, I am getting this data straight from his lab results, which his md only received when I faxed them to him yesterday.  He hasn’t had a chance to examine all the results or explain them to me.

Phew, that was a lot of information thrown out there all at once.  What is the bottom line?  To me, this all means one thing- HOPE.  We have identified some real issues, (albeit all at once and in an overwhelming fashion) issues that can be addressed.  And address them we will.  Please say some extra prayers for my sweet boy as we embark on some of these new interventions.  And say some prayers for his mama that she will make a wise decision when it comes to this new study opportunity.