Jake's Journey with Apraxia

At the beginning of this year, Jake had a series of tests done at our integrative MD’s office. He also took the genetic test 23andMe. I thought it would be interesting to compare the medical tests with his genetic make-up.

This will be a two-part series due to the complexity of this topic.

Throughout this series, I refer to autism a lot. This is because there is much more research on autism versus apraxia. Based on my extensive research on these disorders as well as my own personal experience in raising a child with apraxia, I personally think the two conditions are related. Many things that will help a child with autism have also helped my son with apraxia.

The Beginning …

In December of 2013, I ordered a genetic test kit from 23andMe for the bargain price of $99. About a week later, I received the kit through the mail and promptly sent Jake’s saliva back to their lab. About a month and a half later, I received the genetic “raw data” via email. I took that information and uploaded it to two sites: Livewello and Genetic Genie. Both of these sites take all that coded information and turn it into data that an average girl like me can understand.

The Basics of Genetics …

We have two copies of most of the genes we are born with – one from our mother and one from our father.

Genetic results are listed one of three ways:

1. Heterozygous: (+/-) one mutated gene from one parent
2. Homozygous: (+/+) both genes mutated from both parents
3. Homozygous: (-/-) no mutations

It would make it easier, but not necessarily better, if genetics were black and white. Instead there are many shades of gray with genetic testing. Yes, having no mutation present for a health problem is a positive, but having a gene mutation(s) isn’t always doom and gloom. It increases the likelihood that an issue will arise, but to what degree is often unknown.

Interestingly enough, research has shown that our genes are not our ultimate destiny. Although we cannot literally change our genes, we can alter the way our genes are expressed through diet, toxic load, and environmental influences.

According to Dr. Kenneth Bock in the book “Healing the New Childhood Epidemics” …

Contrary to conventional medical wisdom, the cause of autism is not primarily genetic, but is a complex combination of genetics and environment. Genetics, so to speak, load the gun, and environment pulls the trigger. Genetics alone don’t cause epidemics. Genetics are essentially constant from one generation to the next. Epidemics occur when genetic vulnerabilities are assaulted by environmental changes – introductions of a new virus, a new bacteria, or a new toxin.

Food For Thought …

While I was reviewing Jake’s genetic results, if he had a homozygous mutation (+/+) for something and also had symptoms, I assumed the gene was active. But, I also kept in mind that there were things I could do to try and change the genetic expression or make the symptoms less problematic.

I also found it interesting that some symptoms used to be present, but have now improved. What does this mean? Are they in fact, expressing themselves differently now? Was it because his toxic load decreased? Was it the diet changes? The addition of supplements? Lower inflammation? Nothing? The natural course of his preschool body maturing?

For me personally, genetic testing was more food for thought.

I had certain hypotheses about Jake’s condition and this genetic test was just one more piece of the puzzle. For the most part, it confirmed what I already believed to be true and it also filled in a few blanks. Dr. Amy Yasko’s book was an amazing resource and I found her philosophies to be fascinating.

A few weeks ago I asked if any other parents of apraxic children had done the 23andMe test. I got several responses, but only have two other children to report on at this time. I picked out a few genes that are of particular interest to me.

(Update!) Tune in on Monday to see these side-by-side results.

Disclaimer: All data and information provided on this site is for informational and entertainment purposes only. I am a mom, not a MD or a geneticist. All of the above information is to the best of my knowledge accurate.  Please see complete disclosure at the top of this page.

Sources:

• Genetic Genie Report, 2014
• “Autism: Pathways to Recovery,” Dr. Amy Yasko
• “Healing the New Childhood Epidemics,” Kenneth Bock, M.D. and Cameron Stauth