Buzzy Update April 11, 2014

Ok - it has been a while since I have posted anything.  I was going to try to post on a regular basis - I guess my good intentions just did not get the job done!

Anyhow - today was a very good day.  Candace, bless her heart, took Buzzy to have a MRI of his brain and and 23 hour EEG.  I stayed home from work and took care of Gabby.  In February we had met with a doctor at Rush University hospitals.  He had suggested that we do the MRI and the EEG to rule out seizure activity.  Also the MRI would give baseline data in case there are issues in the future.  Yesterday was the day to get all of that done.

Here is a picture of the buzz from yesterday.  The wrap is to keep all of the electrodes in place.

Anyhow - very good news - all tests came back normal.  There is no indication of seizure activity.  The MRI came back normal.  Candace met with the doctor.  He felt that with all of the progress that we have had, that by kindergarten, the Buzz should be basically a normal child.  Wow - what news.  When we go back about 18 months and have a doctor say there is nothing that could be done to having a doctor tell us we have made great progress gives you a great feeling.  Candace has been tireless in trying to find protocols, supplements, therapies that could be used to help the Buzz.  Bottom line it has worked and we have had progress.  I would say to any parent that learns their child is Autistic - do not give up, do not ever give up.  Our success has been because we have not given up.

Why is Buzzy autistic?  I believe it to be environmental factors.  Having a normal MRI and normal EEG just solidifies my belief.  If we had seen seizure activity or had seen abnormal features in the brain then I would have thought otherwise.  Why does an otherwise physically normal brain exhibit autistic behaviors?  Something has to be causing the brain to do what it is doing.  I really believe environmental factors related to various toxins that are present in everyday life are the culprit.  I also agree with my wife that there is an issue with vaccines.  We are over vaccinating children.  That is a post I will save for another time.

Bottom line - we have come a long way with the Buzz.  It has not been cheap.  I am glad we have good insurance.  I really feel that the money spent now on the Buzz is an investment in the future.  By dealing with this early, we are better able to correct the issues and minimize the number of interventions we will have to do in the future.  I am grateful for how far we have come.  The war is not over.  We will continue to fight for our Buzz - I am just glad to say the future is looking a lot brighter today!

Buzzy

Why have I started this blog?  Quite simply - Preston Michael Tresnak or as we call him Buzzy.  Here he is in a picture with his sister from the Summer of 2013.  Buzzy was born in June of 2010.  My wife noticed that his speech was not progressing.  At age one he had no words.  At age two he really had no words.  What was going with our Buzzy?  He started having speech therapy with limited success.  In the fall of 2012 we sought out the advice of a pediatric specialist.  At that time we received the diagnosis that our Buzzy had Autism.  What to do now?  In the traditional medical field the only answer is various behavioral type therapies.  For my wife and me that was not good enough.

My wife (who will never ever give up on our Buzzy) who used to be a chemistry teacher, started doing research.  What her research told her was that the diagnosis of Autism was not the end, but the beginning.  She asked many questions and determined that we were going try anything and everything to help and fix our Buzzy.  Every day I thank God for blessing me with such a wonderful wife.  Because of her we have had the progress we have had with Buzzy.

What did we do first - eliminate dairy and gluten from his diet.  Was this working or not?  After about six weeks of this, Buzzy ate some gluten and dairy.  The next day he was stimming and off the wall.  There was our answer - gluten and dairy appeared to be a problem.

Candace sought out a specialist to help us through this journey.  That specialist was Dr. Usman in Naperville.  Through her work and through many things that my wife had researched, we found that there could any number of things that could be contributing to Buzzy's Autism.  We followed the advice of Dr. Usman's practice and we started seeing positive results.  We also started ABA in January of 2013.

Fast forward to now.  In the last year Buzzy has started to talk and can use full sentences.  He has become more social.  Do not get me wrong, Buzzy is not cured.  We still have a long way to go.  We will never, ever give up on our Buzzy.  The good news is that we have had success.

I hope to use this blog to discuss the various treatments that we have used with Buzzy and let the reader know how they have worked.  In an earlier blog I talked about how I feel Autism is a symptom.  I believe that more and more every day.  Autism does not just happen - there has to be a cause.  If we can determine the cause, maybe we can develop a solution.  Feel free to leave comments.

I hope that this blog is helpful and also give anyone who knows or has an autistic child hope.

Conference Summary 9/28/2013

Very good conference.  I am glad Candace suggested that I go.  I felt like I was back in college for some of it.  The biomedical presentations were like sitting in biology class.  A lot of data was presented as well results of various studies.  Next step - getting mainstream medical on board.  There at least needs to be a conversation.  I kept telling my wife that I believe that Autism is a symptom.  It is the brains reaction to something that is out of order.  Could it be as simple as chemical imbalance?  Is it the digestive system not processing food normally, causing a release of toxins to the body?  The key to the solution is figuring out the why.

What are the take aways from the conference.

1.  There are simple things you can do now such as changes in diet that seem to have good results.  Go gluten free and dairy free (I know easier said than done).
2.  Find a good doctor (www.medmaps.org) that works with these various protocols.
3.  Do not expect an instant solution - there is no silver bullet.
4.  Every kid is different - what works for one might not work for another.  The key is trying to find the cause in the case of your child and use protocols that are designed to address that cause (this can take a lot of trial and error)

We have come a long way in a year with Preston.  We have a long way to go.  Preston's autism is a tough nut to crack.  We will keep on picking at the shell of Autism until we break away the outer shell of the nut and are left with what is and who is truly our Preston.

Cerebral Folate Insufficiency: New Testing & Treatment for Autism Spectrum Disorders - Dr. Richard E. Frye

Cerebral Folate Insufficiency:  New Testing & Treatment for Autism Spectrum Disorders

Dr. Richard E. Frye

The Etiology of Autism:  More than Genetic Disorders

Cytogenetic Abnormalities - 5%

Fragile X - 5%

Rett SYndrome (females only) - 5% (1% overall)

Chromosomal Microarray - 10%

Total - 21%

This leave about 79% of children with ASD that are not genetically related.

Vitamin B9 (Folate)

• Water soluble vitamin
• Folate = occurs naturally in food
• Folic acid = synthetic form of folate used in supplementation and fortified foods, inactive and oxidized
• There are are over 100 folate analogues

Cerebral Folate Deficiency (CFD)

• Any neurological or psychiatric condition associated with lowered CSF 5MTHF in the presence of normal folate levels outside the CSF (a neuro metabolic syndrome)

Treatment for Cerebral Folate Abnormalities

• 5MTHF
• Folinic Acid

Milk free diet is recommended.  Milk might cause issues with the body processing Folate correctly.

Do not use Folic Acid

Folinic acid is prefered

Testing for Folate Insufficiency

CSF (Cerebral Spinal Fluid) is the gold standard - mean lumbar puncture

General notes so far

This has been a good conference so far.  A lot of what has been presented, Candace has been teaching me.  It is good to put everything together.  We have come a long way with Preston in the last year.  It is sad that the main stream medical community has not accepted some of the protocols that are being discussed here.  Most of the protocols are very straight forward such as changes in diet that do not involve taking various medicines.

There is a need for more research and more communication in the medical community.  Autism is treatable!

Dr. Anju Iona Usman - 9/28/2013 - TACA

Laboratory Testing Options

Dr. Anju Ion Usman

Believes that Autism is a medical condition.  Main stream looks at it as a mental disorder.

Simple Tests GIve Us Clues

• pH strips
• Coco Pulse Test
• Beets or Charcoal
• Iodine Skin Test
• Zinc Tally
• Urine Odor
• Maple syrup
• Bread
• Ammonia
• Poop Page or Bristol Stool Chart
• Sinking vs. Floating
• Falling apart/Fulffy
• Pencil-thin
• Epson Salt Bath Challenge

Basic Blood Testing Options

• CBC
• Comprehensive Metabilic Panel
• Serum Copper
• Plasma Zinc
• Thyroid profile (TSH, free T3, free T4)
• Blood Lead
• Iron, blood
• Celiac panel
• Ammonia, Blood
• Vitamin D 25 OH
• Reduced or Total Gluthathione
• Cholesterol, total

Basic Biomedical Lab Workup

• Basic Bloods Tests
• Urine Organic Acids (OAT)
• Plasma or Urine Amino Acides (PAA, UAA)
• Stool Microbiology, Mycology, and Parasytology (CDSA)
• Hair Analysis or Urinary Porphyrins
• Genomics

Dr. Frye - TACA 9/28/2013

Seizures and Epilepsy in Autism Spectrum Disorder

Richard E. Frye, M.D., Ph.D.

Most treatments used with Autistic children are not FDA approved

Children with autism spectrum tend to have more seizures than children without Autism.  

Two age peaks for the seizures

• Before age 5
• Adolescence

Causes of seizures in Autism

• Brain Malformations
• Onset at Birth
• Microcephaly
• Development Delay
• Metabolic Disorders
• Mitochondrial Disorders
• Cerebral folate deficiency

Treatments of Seizure in Autism

• Antiepileptic Medications (there have not been any controlled studies for autism)
• Levetiracetam - double blind trial did not show any significant change in behavior
• Divalproex Sodium - Open label trial showed some improvement
• Lamotrigine - trial did not show any improvement