Tuesday, February 9, 2010

Another Part of the Plan of Attack

I've mentioned the creatine supplementing that began Friday night, 2/5/10.  Some other things that I had started doing perhaps two weeks ago is supplementing Evan with vitamins. I am giving him children's chewable multivitamin as well a high dose Vitamin D to help with inflammation in the brain, and also a high dose of Omega 3 in gummy form.  I started doing this perhaps 2 or 3 weeks ago.

Last week (Wednesday 2/3/10), Evan read me a book for the very first time.  This was a tremendously wonderful thing.  I thought it was unusual, but just thought perhaps he has learned it and I didn't realize it somehow.  Today, his teacher called me out of the blue and bragged on the change she has seen.  She says he is super alert and even cracking jokes!  She even mentioned the sudden ability to read.  I'm just blown away!  I think I am actually on the right track here.  It's so wonderful to see these things.  I've noticed small things myself which are very positive.

I'm also quite happy to report that Evan's thyroid levels are now within normal bounds...no medication used.  Only supplements.  People, this stuff WORKS.

If you'd like to read about how Vitamin D can help with inflammation and in turn help the brain, here are some great links:




Friday, February 5, 2010

Creatine Deficiencies - A (not so) Novel Approach

As I was mentioning in my prior entry, Evan seems to be suffering some creatine deficiencies.  I've gotten an updated set of labs done as of this morning, so I will know his starting point.  I've ordered some creatine supplement such as the type body builders use.  I plan to start supplementing him starting tomorrow morning.  I was wondering why no one has thought of this approach to help these kids and other individuals as its a major cause of mental handicap and a common issue in the family of leukodystophy diseases.  My sister forwarded this article to me earlier today of a documented case that this approach was used.


In this article, the child had low creatine and at 16 months of age was only functioning at a 7 month old level. After being supplemented with 400 mg/kg/d (400 mg per kg of weight) of creatine per day, growth rate accelerated to the normal range. At 18 months she showed developmental age of 10 months, a clear increase in development. Creatine dose was increased to 600 mg/kg/d at 20months and at 29 months she showed a developmental age of 23 months and (80% and 86% of chronologic age).

Holy cow!  I'm so excited to try this!! 

All the same, I should expect some gain from this. Studies have shown that creatine supplementation boosts cognitive ability even in normal adults.

Check out this blurb from Wikipedia:

Cognitive ability

A placebo-controlled double-blind experiment found that vegetarians who took 5 grams of creatine per day for six weeks showed a significant improvement on two separate tests of fluid intelligence, Raven's Progressive Matrices, and the backward digit span test from the WAIS. The treatment group was able to repeat longer sequences of numbers from memory and had higher overall IQ scores than the control group. The researchers concluded that "supplementation with creatine significantly increased intelligence compared with placebo."[20] A subsequent study found that creatine supplements improved cognitive ability in the elderly.[21] A study on young adults (0.03 g/kg/day for six weeks; only 2 g/day for 150-pound individual) failed, however, to find any improvements.[22]

Saturday, January 30, 2010

Evan Puzzle Piece # 1 - Creatine issues

As I mentioned in my prior post, hard copy medical records are incredibly important.  I've taken Evan's lab results to date and put them in a spreadsheet to track, with the out of range values highlighted.  There are some very interesting things going on.  I'm trying to track down more recent labs and get an updated set to see if I can get some more up to date numbers.  One thing in particular that interests me is his creatinine levels.  Note that they're always low.  Creatinine is a break-down product of creatine phosphate in muscle, and is usually produced at a fairly constant rate by the body (depending on muscle mass).  Evan has always had hypotonia (poor muscle tone) and this would be consistent with that problem.  Another thing to consider is the fact that creatine is fuel for the muscles AND the brain. 

A test that was performed at Chapel Hill in 2006 showed that Evan had a Guanidinoacetate level of 159.53, which is quite high considering the acceptable range is between 10-100. Guanidinoacetate is a Creatine transport chemical.  An excess of this indicates a malfunction, meaning that not enough Creatine is getting to Evan's muscles and brain. Evan's Creatinine levels have been around 0.4 and 0.3 with .05 being the lower acceptable level. 

As soon as I get updated labs to know what my starting figures are, I am going to try to supplement Evan with creatine.  Bodybuilders do it to build muscle, so obviously this is harmless and is certainly is worth a shot.

The Importance of Looking At Medical Records

Like most people, until maybe a year ago, I'd never thought to worry much about medical records except the aggravation of getting them transferred to another doctor's office if a new doctor is being seen.  Our current paper based system is INCREDIBLY inefficient.  I personally think medical records should be in a database that any doctor's office can access at any given point in time.  In fact, I think we should have access to our own and our children's records while they are minors at any given point in time.  Medical records should not be a secret and difficult thing to obtain.  We also should not have to pay for them.

Recently, about a year ago, I got fed up with the aggravation of having to deal with Evan's medical records not getting to where they needed to go all the time so I decided to amass them myself and get them organized in a 3 ring binder so that precious time would not be wasted in having to wait for records to be transferred.  Speaking of which, NEVER assume your doctor or your child's doctor knows or remembers all the details.  Your doctor is merely a highly educated human being.  A highly educated human being that sees thousands of people, dozens a day.  You and I, my child or yours is but a blip in their day.  They're going to forget details and make mistakes.  Do not for a moment place your life or your child's life completely in their hands.  If you think for a moment that there are some details being forgotten, you BETTER bring it up.  Anyway, I started trying to amass these medical records and of course I had to pay for some of these, but it was well worth it.  So far, I've paid close to $85, have amassed enough to fill a 3" binder, and I'm not done getting everything.  I've also managed to obtain a CD full of MRI images. 

Of course when I got these medical records, I HAD to read them and what I found just absolutely floored me.  There was so much that I was never verbally told.  So much could have been done earlier.  Or at least, I think perhaps it could have.  If you, your child, or a loved one is dealing with an ongoing medical issue, PLEASE get your/their medical records together and look at them.  You may not understand what some of it is talking about, but you can learn.  There is a wealth of knowledge to be had at your fingertips if you have a computer and internet access.  What you find may shock you and put you on the right path to some answers.

Here is a link to Avery's Do-It-Yourself Health Care Binder


Thursday, January 28, 2010

Evan's Story - Part One of many

Evan was born March 10, 2003 at a local community hospital.  I had a rather uneventful pregnancy, aside from no appetite.  During my pregnancy I lost 50 or 60 lbs, though I really needed to since I was very heavy.  Evan was considered a high risk pregnancy since his older sister was born with a heart defect (PDA - Patent Ductus Arteriosis).  He was monitored and got all the advanced scans and tests, but was given the thumbs up all the way through.  I did notice that he didn't move nearly as much as his sister had when I was pregnant with her, but I just assumed that she was perhaps a feisty one (which is very true).  Evan was induced 2 weeks early due to size.  His older sister had been quite large and thankfully the OB decided to spare me the grief of birthing a baby that large again!  So at 4:16pm that afternoon, Evan was birthed naturally and with no complications, though the OB literally barely showed up in time to catch him!

Immediately it was obvious something was amiss.  Evan was covered from head to toe in tiny blisters or pustules and he looked, well...just odd.  His skin was unusually loose.  He had 2 skin tags around his right ear. He also had a really big forehead and huge floppy ears. The nurses handed him to me for a moment to hold and took him for examination shortly thereafter while I got some post birthing care.  Afterwards however, I didn't get him back immediately after I asked for him, the nurses kept stalling.  Eventually I got up and walked around to the nursery and saw him in the incubator.  Eventually I found out that he had been witnessed having a suspected seizure and was going to be transported to New Hanover Regional Medical Center to the NICU.  I was devastated.  Here I was again faced with the unfortunate fact of not being able to take my baby home after being released.  Evan was transported that evening to NHRMC and I was not able to go with him because I was not able to be released until 5am the next morning.  The attending pediatrician told me that she suspected some particular genetic defect, though I cannot recall which.  Of course it did not turn out to be a correct suspicion.  His tiny pustules were diagnosed as pustular melanosis.  Very odd.  Very odd indeed.

5am March 11, 2007 I hit the ground running to NHRMC to see my baby.  He was in NICU for 4 days.  While there, he had 2 MRIs and an EEG.  The MRI showed that he had a brain hemmorage and his EEG showed that his brain waves were abnormal.  Initial genetics testing was inconclusive, though the doctors agreed something was going on.  They also found that he had a very deep sacral dimple at the base of his spine.  MRI on his spine however showed that it was closed thankfully.  We spent 2 days in the Pediatrics unit for observation and then we were allowed to go home.  I remember being so very angry that we were being kept and all these tests were inconclusive.  I just wanted to take Evan home because I kept insisting NOTHING WAS WRONG.  Just leave us alone...

Evan was put on Enfamil AR because he had terrible reflux.  Evan would not breastfeed either, not matter how hard I tried to get him to.  In fact, he didn't want to be held.  He would cry until I put him down often times, even for feeding.  Just prop up a bottle and he was fine.  Less than 2 weeks after I brought him home however, he has a reflux episode that was so bad, he aspirated on the formula and I had to call 911 because he had completely filled his lungs and could not breathe.  Thankfully I lived VERY close to the hospital, or the poor fellow would have been totally lost to us.  As it was by the time the ambulance met me with him, he was completely unresponsive.  I'm sure that did not help much at all.  We were transferred to Pitt Memorial to make sure Evan didn't develop infection in his lungs.  We stayed there a week or so before being released.

Evan always had feeding problems.  When it came time for solid food, he would choke on it.  I had to take him for a barium swallow test, and all I was told was that it showed he had an infantile swallow reflex.  The fix for that was to give him "finger foods".  That worked out pretty well and eventually he tolerated solid foods pretty well.

Of course from here, we're seeing a neurologist and genetics.  The neurologist is focusing on the brain hemmorage of course and that's all I've been asking about because I don't know any better.  I've been going on what I've been told verbally.  Basically however, I'm being told that genetics tests aren't showing anything yet, but to check back later since tests get better all the time.  The neurologist has me come in for follow up appts at certain intervals, but basically at that point, we didn't know what all that had happened to him would mean.  And from what I remember at that point, Evan seemed rather normal.  Evan however, was a very floppy baby.  He had almost no muscle tone.  On the other hand, I am not sure if I'd have allowed myself to see anything otherwise.  I was in much stubborn denial at that point.  I didn't want anything to be wrong with my child.  I tied strings around the skin tags on his ears so that they just fell off.  I treated him like a normal child. 

However, it seemed after the first year, things seemed to unravel.  I remember Evan cruising holding on to furniture before he turned a year old and thinking he would be walking any time now.   It wasn't until he was 19 months old and not walking that I finally had to admit that he needed help.  From what I recall, Evan even had said a few words at some point and then it dried up.  Somehow after 12 or 13 months, I lost the normal baby I remembered.  Or I just opened my eyes, I'm not quite sure which it was honestly.  Evan fit the criteria for autism and I had him evaluated.  He was rated as severly autistic at that point.  He was very aggressive, slept very little, completely non verbal and most of the time didn't even seem to be aware of his surroundings.  He injured himself by beating his head.  I remember he used to love running kamikaze into my big screen TV and just smacking into it.  He had severe sensory issues.  He of course was very developmentally delayed.  Needless to say, I was crushed.  This is a very difficult thing to accept.  I remember sitting in the parking lot after the appointment and crying at my steering wheel for what seemed like forever.  How could this happen to me?  It was almost like mourning the death of a child...or at least the idea or projection of the child.  I accepted whatever help I was offered however, since I was convinced that early intervention would help Evan and he would "grow out of it".

Evan began to get therapy at home.  Speech therapy, occupational therapy, so many I forget at this point.  I talked to Evan incessantly though he didn't talk to me.  To this day I could hold a full 2 sided conversation with a wall.  I learned that talking to Evan in a high pitched sing songy voice was the only way he even seemed to even notice anyone was even talking at all.  Evan never did any pretend play and to this day does very very little.   Around the age of 2 Evan began having crying jags where he would just cry for no apparent reason for days.  Afterwards however he would seem to be a bit more advanced than before.  It's my opinion that he was having headaches and they were caused by his brain healing and neurons/synapses reconnecting.

Evan finally learned how to say single words with a very small vocabulary around the age of 3.  This was also around the time that he aged out of the Early Intervention program and was put into the Pre-K program at public school that had just been started.  Evan was also released from the neurologist at this time.  He had an MRI around this time and the neurologist told me that the hemmorage had resolved and no new ones had occurred.  He also explained to me that Evan's rate of developmental progress would be consistent as it was then.  So basically with Evan, take his physical age and anywhere from 1/3 - 1/2 of that will be his developmental age.  At that time I was hopeful that Evan would still "grow out of it".  However, the 1/2 - 1/3 formula has been pretty consistent even to this day as different abilities are at different levels. 

At the age of 4, Evan was talking a bit better, though his aggression and anxiety was still awful.  I couldn't take him into the grocery store without him beating his head on the grocery cart.  Life was rough.  We couldn't sing around him without setting him off.  Certain music would set him off.  There was a list a mile long that would set him off.  I was exhausted and I am sure he was too.  I started taking him to a pediatrician that dealt more with kids like Evan, though more often with ADHD.  Evan was put on clonidine patches to calm him down.  However, Evan is super flexible and that didn't work very well since he was constantly pulling them off.  The clonidine was nice otherwise since Evan was for once much calmer.  Evan was switched to Risperdal in liquid form, which is frequently prescribed to autistic children to calm them.  Life was MUCH better then.  Evan was much calmer and then talking better too. He FINALLY potty trained at 4 as well, which I was very thankful for since diapers are hard to come by for kids this size.  One unfortunate side effect was appetite, but at first that wasn't a bad thing since Evan never had eaten much before.  Eventually of course, he got kind of chubby, especially with family coddling him.  But what can you do?  You do what you can to keep the boy happy is what you do!

Age 5 and he starts Kindergarten.  That's right, I put him into mainstream Kindergarten.  The summer before I had put him on ADHD meds and that had also given him some pretty good improvement.  In fact, after that he started talking in sentences.  With the Pre-K he had received for those 2 years in public school and the fact I had kept him mainstreamed, I felt he stood a good chance of doing ok in Kindergarten.  I think he did pretty well considering.  I fought to keep him in regular Kindergarten for a while.  In retrospect, I think I fought for it so hard because I felt like if he was in Kindergarten, then he was ok, cut and dry.  Midyear however, I finally had to accept the cold hard truth yet again.  He was floundering of course and his Kindergarten teacher simply did not have the resources to give him the one-on-one attention he desparately needed.  He was put in EC for a few hours a day at first and over time it became more and more. 

Now he is 6 and was promoted to 1st grade this year.  He actually does math on a Kindergarten level and can hold a very simple conversation with you.  He can read a few words.  I have even witnessed him doing some light pretend play every now and then.  He talks a lot in movie script lines and TV show/cartoon script lines. He's very loud and self unaware.  I still have to tie his shoes and help him in the bathroom with wiping.  He's also very angry and volatile at home.  At school he does well, partially due to the structure, partially due to the fact that his meds are working at that point.  By the time he gets home, the meds have worn off.  He's also very obsessive with things.  He plays video games all the time.  He watches certain movies over and over, skipping to his favorite parts and reciting the lines all the way through.  Evan is a tall blonde elfish looking fellow, very sweet, but very anxious and tormented.  I WILL get to the bottom of this and help him.

Medically, I have recently discovered on my own MUCH more than was ever revealed to me to the puzzle that is Evan.  I will post this next.

Sunday, January 24, 2010

So it begins...or at least the blog does!

I have decided to start a blog after realizing I had so much going on in my life that needed to be shared with others that could help someone else. I am a person that is a problem solver by nature and at any given point, I have numerous problems to solve. However, there are a few really large problems that need to be enumerated and discussed. One is the struggle I am going through with my son's medical issues. The other is a problem I have mostly gotten under control, which is my own health. Obviously there is much to discuss under these topics in themselves as they are very very deep and expansive topics. In fact, I wish I had done this earlier. I have started two blogs - this one and http://esotericsysadmin.blogspot.com/ to talk about the things I deal with at work. Be sure to check it out too if you have any interests in computer related topics.