Jake's Journey with Apraxia

And the Friends We Met Along the Way

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.

23andme

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

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5 thoughts on “Genetics and Apraxia: Part 1

  1. Kristy says:

    I just ordered the kit and it’s sitting on my desk! I am planning to get the sample sent off tomorrow. Excited to see the rest of your series unfold!!

  2. Livewello says:

    Great blog, we’ll re-blog this if you that’s okay. Some things to keep in mind if you’ve received your Raw Data:

    1) This *Sample Standard LiveWello Gene Report has some very good overview information: https://livewello.com/snps/share?for=martin.dawson.606
    Remember it is only 300 of the 600,000 in Livewello.

    2) The Health Conditions Tool helps you find and generate your own results on Genes that Research Studies have associated to certain Health Conditions: https://livewello.com/gwas

    EXAMPLES of Templates built with this tool:

    TYPE 2 DIABETES GENES: https://livewello.com/snps/library?action=preview&index=806504&for=demo

    AUTISM SPECTRUM DISORDER, ADHD, BIPOLAR DISORDER, MAJOR DEPRESSIVE DISORDER, AND SCHIZOPHRENIA: https://livewello.com/snps/library?action=preview&index=379628&for=johnadams

    HYPOTHYROIDISM GENES: https://livewello.com/snps/library?action=preview&index=335986&for=demo

    ULCERATIVE COLITIS GENES: https://livewello.com/snps/library?action=preview&index=186332&for=martin.dawson.606

    THYROID RELATED GENES: https://livewello.com/snps/library?action=preview&index=427779&for=florence

    See the 1 minute mark of this How-To Video: http://vimeo.com/103746466

    3) The SNP Sandbox Tool can create Gene reports based on a Gene Name or any combination of SNPs: https://livewello.com/snps/sandbox

    SNP Sandbox Tool Video for 23andMe users: http://vimeo.com/103512972

    SNP Sandbox Tool Video for other Personal Genomics Company users: https://drive.google.com/file/d/0B3wi07iiWY7dd1lWdk1XQlN4SVU/edit?usp=sharing

    More About Sandbox: https://docs.google.com/a/livewello.com/document/d/1IrRpSqjVjPylUZ8bJvndF9u69YpiukfZvSXVUEvrT6E/mobilebasic

    EXAMPLES of Templates built with the SNP Sandbox Tool:

    MTHFR: https://livewello.com/snps/library?action=preview&index=393575&for=demo

    YASKO’s NUTRIGENOMICS GENES: https://livewello.com/snps/library?action=preview&index=356849&for=demo

    METHYLATION Genes: https://livewello.com/snps/library?action=preview&index=899200&for=demo

    4) The Gene Library contains hundreds of Gene compilations that were created using the SNP Sandbox Tool and the Health Conditions Tool. By Clicking on a template link, you can use it to auto-generate a report for yourself or any profiles in your account: https://livewello.com/snps/library

    Gene Library Video: https://vimeo.com/87970578

    EXAMPLES of Gene Library Entries:
    MTHFR: https://livewello.com/snps/library?action=preview&index=393575&for=demo

    CELIAC DISEASE: https://livewello.com/snps/library?action=preview&index=417820&for=demo

    PARKINSON’S DISEASE: https://livewello.com/snps/library?action=preview&index=41870&for=demo

    LACTOSE INTOLERANCE: https://livewello.com/snps/library?action=preview&index=257796&for=florence

    P.S. These Gene templates and more can be found in the Gene library. All its contents are free to all LiveWello Gene App owners. The library is just one of 8 other features that are free with the App:
    https://www.facebook.com/notes/livewello/about-livewellos-gene-app/863565933654629

    5) The Health Management Tool helps manage your:
    ~Health Conditions: https://livewello.com/health/dx
    ~Medications & Supplements: https://livewello.com/health/rx
    Video : https://vimeo.com/103746466

    6) Use the 9 Comprehensive learning and research Resources attached to each Gene in your report.
    Every Gene in Livewello’s Variance Reports is hyperlinked to resources like Medline, GHR, Google Scholar, dbSNP, Ensembl, Wiki Genes, PubMed, SNPedia and Uniprot.
    Information from each link is composed to suit different styles of learning and understanding. Just click on the “i” or the Gene directly on your Report.

    7) Data Apps for keeping track of your other functional Lab test results: https://livewello.com/data-apps

    8) The Health Village Tool

    You can use this tool to create a support network of people that can include your Family members, Healthcare Practitioners or Friends. Within this village you can privately share up-to-the-minute information about all aspects of your health like your most recent medication list, allergies, lab results and more http://www.slideshare.net/mobile/Livewello/how-to-create-your-health-village

    ~ Other tools:

    9) Compare Report Feature
    Compare your Gene Reports side-by-side with family members or other profiles in your LiveWello Account: https://vimeo.com/86789213

    All of the above are free with your 1-time purchase so take advantage of them. Pls send us a link to your blog so we can also share with our social media followers.
    Best of health to Jake and your family!

  3. Livewello says:

    Reblogged this on livewello and commented:
    Great blog! Some things to keep in mind if you’ve received your Raw Data:

    1) This *Sample Standard LiveWello Gene Report has some very good overview information: https://livewello.com/snps/share?for=martin.dawson.606
    Remember it is only 300 of the 600,000 in Livewello.

    2) The Health Conditions Tool helps you find and generate your own results on Genes that Research Studies have associated to certain Health Conditions: https://livewello.com/gwas

    EXAMPLES of Templates built with this tool:

    TYPE 2 DIABETES GENES: https://livewello.com/snps/library?action=preview&index=806504&for=demo

    AUTISM SPECTRUM DISORDER, ADHD, BIPOLAR DISORDER, MAJOR DEPRESSIVE DISORDER, AND SCHIZOPHRENIA: https://livewello.com/snps/library?action=preview&index=379628&for=johnadams

    HYPOTHYROIDISM GENES: https://livewello.com/snps/library?action=preview&index=335986&for=demo

    ULCERATIVE COLITIS GENES: https://livewello.com/snps/library?action=preview&index=186332&for=martin.dawson.606

    THYROID RELATED GENES: https://livewello.com/snps/library?action=preview&index=427779&for=florence

    See the 1 minute mark of this How-To Video: http://vimeo.com/103746466

    3) The SNP Sandbox Tool can create Gene reports based on a Gene Name or any combination of SNPs: https://livewello.com/snps/sandbox

    SNP Sandbox Tool Video for 23andMe users: http://vimeo.com/103512972

    SNP Sandbox Tool Video for other Personal Genomics Company users: https://drive.google.com/file/d/0B3wi07iiWY7dd1lWdk1XQlN4SVU/edit?usp=sharing

    More About Sandbox: https://docs.google.com/a/livewello.com/document/d/1IrRpSqjVjPylUZ8bJvndF9u69YpiukfZvSXVUEvrT6E/mobilebasic

    EXAMPLES of Templates built with the SNP Sandbox Tool:

    MTHFR: https://livewello.com/snps/library?action=preview&index=393575&for=demo

    YASKO’s NUTRIGENOMICS GENES: https://livewello.com/snps/library?action=preview&index=356849&for=demo

    METHYLATION Genes: https://livewello.com/snps/library?action=preview&index=899200&for=demo

    4) The Gene Library contains hundreds of Gene compilations that were created using the SNP Sandbox Tool and the Health Conditions Tool. By Clicking on a template link, you can use it to auto-generate a report for yourself or any profiles in your account: https://livewello.com/snps/library

    Gene Library Video: https://vimeo.com/87970578

    EXAMPLES of Gene Library Entries:
    MTHFR: https://livewello.com/snps/library?action=preview&index=393575&for=demo

    CELIAC DISEASE: https://livewello.com/snps/library?action=preview&index=417820&for=demo

    PARKINSON’S DISEASE: https://livewello.com/snps/library?action=preview&index=41870&for=demo

    LACTOSE INTOLERANCE: https://livewello.com/snps/library?action=preview&index=257796&for=florence

    P.S. These Gene templates and more can be found in the Gene library. All its contents are free to all LiveWello Gene App owners. The library is just one of 8 other features that are free with the App:
    https://www.facebook.com/notes/livewello/about-livewellos-gene-app/863565933654629

    5) The Health Management Tool helps manage your:
    ~Health Conditions: https://livewello.com/health/dx
    ~Medications & Supplements: https://livewello.com/health/rx
    Video : https://vimeo.com/103746466

    6) Use the 9 Comprehensive learning and research Resources attached to each Gene in your report.
    Every Gene in Livewello’s Variance Reports is hyperlinked to resources like Medline, GHR, Google Scholar, dbSNP, Ensembl, Wiki Genes, PubMed, SNPedia and Uniprot.
    Information from each link is composed to suit different styles of learning and understanding. Just click on the “i” or the Gene directly on your Report.

    7) Data Apps for keeping track of your other functional Lab test results: https://livewello.com/data-apps

    8) The Health Village Tool

    You can use this tool to create a support network of people that can include your Family members, Healthcare Practitioners or Friends. Within this village you can privately share up-to-the-minute information about all aspects of your health like your most recent medication list, allergies, lab results and more http://www.slideshare.net/mobile/Livewello/how-to-create-your-health-village

    ~ Other tools:

    9) Compare Report Feature
    Compare your Gene Reports side-by-side with family members or other profiles in your LiveWello Account: https://vimeo.com/86789213

    All of the above are free with your 1-time purchase so take advantage of them. Pls send us a link to your blog so we can also share with our social media followers.
    Best of health to you and your family!

  4. Amber F. says:

    So interested to read the next post! We haven’t done the 23andme yet but we did test for MTHFR mutation.

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