Genetics and 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.

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.

Tune in on Sunday 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

“Tih-uh-Tee”

Please welcome Katie today. She is one of the four contributing writers who will be sharing posts on a regular basis. Katie was Jake’s SLP for the past two years and is a dynamite apraxia fighter.

With the holiday season upon us, I want to take this opportunity to encourage parents to embrace family traditions as a therapy tool. While children diagnosed with CAS often have difficulty verbally participating in holiday festivities, their involvement can greatly increase with your help!

Begin making a list of words, phrases, and family members’ names you would enjoy hearing your child say. For example, as Halloween approaches, target words and phrases may include “Trick or Treat,” “Happy Halloween,” “Boo,” “pumpkin patch,” and specific costume or character names. Many of these targets contain complex phonemes, syllable shapes, and consonant blends. However, by providing a personalized list to your child’s speech therapist, meaningful gains can certainly be made.

costume

As a therapist, my ultimate goal is to increase each child’s ability to functionally communicate with the important people in his life and to express those thoughts and ideas which motivate him the most. Based on a speech therapist’s specialized knowledge and experience of speech sound development, error patterns, and CAS, she can assist you with breaking chosen target words and phrases into manageable parts or approximations.

“Trick or Treat” may become “Tih-uh-Tee,” “Happy Halloween” turns into “Haa Haa Wee,” and “pumpkin patch” can transform into “puh-kuh pat.” In context, many listeners can interpret these dear phrases, and communication is enhanced.

When “MiMa” and “Pepa” or “Aunt Patty” are coming to town, prepare your little one to call them by name. Take photographs of these special family members to his speech therapy sessions and add these words to your target list. Think of the joy and smiles that will result when approximations of these names are uttered!

Do not be afraid to break away from set goals during your therapy sessions. You know your child better than his therapist, and you know what you deem worthy of attention. I always openly receive such initiative and expertise, and I thrive on partnering with parents to achieve maximum benefits.

The principle of personalizing your child’s speech therapy experience extends beyond holidays. You are the one watching your child “do life.” You know her favorite television show is “Peppa Pig” (“Deh-da Ih” to others). You know that toy he cannot fall asleep without. You know the ice cream flavor she tasted when the family took a trip to Bruster’s. You know the name of his new bestie at pre-K. Team up with your speech therapist to guide your little talker as he shares his heart with the world!

The mother of one of my clients brought to my attention that he could not pronounce “Chloe,” his sister’s name. After spending most of only one therapy session working toward production of “ko” + “ee” and then “ko-ee” (with Chloe present and active in a joint game), this personal goal was successfully reached. It was so much more rewarding for all involved parties (especially the now smiling sister) to have won this small battle than it would have been to practice consonant-vowel combinations (e.g., “hippo,” “beetle,” “Mona”) using flash cards.

A little girl with whom I am currently working with loves to say “dinosaur” followed by an animated “roar.” Unfamiliar listeners are unable to decipher this communicative attempt, preventing continuation of an initiated interaction. Despite her hard work, Mom had been unable to facilitate production of “dino,” an appropriate modification. During therapy, we used hand cues to attain “di-nuh!” Victory!!

Repeated practice of these meaningful words is already built into your daily routines allowing for effective additions to your child’s expressive vocabulary. Furthermore, homework takes on new purpose!

Now . . . Make your list. Suit up. Hand your child her plastic jack o’ lantern. And listen to her say “Tih-uh-Tee” this Halloween. That jack o’ lantern won’t be the only one smiling ☺.

pumpkins

To learn more about Katie, please click here to read her bio.

Other Posts By Katie:

P.S. – In addition to speech sessions with Katie, for a few months in 2013, Jake also did teletherapy via our home computer with a company called VocoVision. He had online speech therapy sessions with an ASHA certified SLP and it was magically done with video conferencing software.  Just recently, VocoVision wrote an article titled “Telepractice and Childhood Apraxia of Speech.” Click here to read the article. Because telepractice is relatively new for children with apraxia, I’m sure they would love to hear your feedback as parents and SLPs!

Hey Mama Rock Me

Please welcome Tara today. She is one of the four contributing writers who will be sharing posts on a regular basis.

melody

That’s one of my favorite lines from an Eric Church song called “Springsteen”.

It’s so true. You hear a song and it can take you right back to a certain time … a certain place … a certain person.

When my son was diagnosed with apraxia I felt so cheated because during pregnancy I pictured us having crazy dance parties and singing at the top of our lungs.

My little boy couldn’t even say “mama” … how was he ever going to sing a song with me?

We are big country music fans so on our way to and from countless speech therapy appointments, that’s what we always have on. About a year ago, a song called “Wagon Wheel” (redone by Darius Rucker) came on.  To be honest, I never liked the song much at first, but it was being played often during that time. I was just getting ready to flip to another station when my 3-year-old son perfectly sang the words “Heyyyyy Mama (Rock Me)”.

I almost drove off the road.

It was literally music to my ears.

“Heyyyyy Mama” is in the song over and over again.

(What’s that key to apraxia?!? Repetition. Repetition. Repetition.)

 

Needless to say that song will forever hold a special place in my heart. My son would light up when it came on. I could tell deep down it give him confidence. He found his voice in that song. Gradually (because we played the song what felt like 400 times a day back then) he learned all of the words. So did my 2-year-old daughter who also has apraxia.

We’ve never done any formal music classes with the kids … I’m just a big believer in the power of music. I’ve read many stories about Alzheimer’s patients who can’t remember the names of their children, but they hear a song like “Amazing Grace” and they can sing every single word.

My Dad also found us some incredible CD’s called “Talk It Rock It.” Every day at lunch we listen to these CD’s. I consider it part of their speech therapy.  The kids don’t even realize they are practicing their words because they are just singing along! (And talk about a small world! The genius speech therapist who did these CD’s happens to live in the same city as we do and I’ve gotten to know her very well).

It’s frustrating that most likely I will never get a real answer about why both of my kids have been handed the challenge of apraxia. Why their brains have to be “trained” to do things that just happen naturally for other kids.

But, one of the silver linings I’ve found on this roller coaster — and still difficult– journey is the true joy of music ……… even the billionth time I hear my now 4-year-old son and 3-year-old daughter singing “Let It Go” from Disney’s Frozen. (Seriously what is it with that song?!?!)

However, my husband always reminds me “we paid a lot of money and invested countless hours to hear those words”.

He’s absolutely right.

To learn more about Tara, please click here to read her bio.

Other Posts By Tara:

SOURCES:

Apraxia … My Day of Reality

Please welcome Sam today. She is one of the four contributing writers who will be sharing posts on a regular basis. 

Oh my, after 2 1/2 years of work, sleepless nights and worry, what do you write about when given an opportunity to post to others living a similar life? After some contemplation I’ve decided to share my day of reality with you. Not the day that I realized we needed speech, not the day we started speech, not even the day of diagnosis. It was the day my denial began to fade.

My sister-in-law called me on May 14th of 2013 to let me know it was the first annual Apraxia Awareness Day. “What?! There’s a day dedicated to this? Enough people know about it to justify an official day?!” So once the kids were in bed I decided to sit and write a letter to all of my family and friends throughout the country. Many of which had no idea of what we were battling.

When I started writing I was indifferent to any emotion really. As I continued to summarize the beginning of our journey it was through tears. Had I really not reflected on what this is and what it means? Don’t get me wrong. I had already spent many sleepless nights prayerful or researching, but I always allowed a bigger part of me to think that things will click soon and this challenge will vanish.

This letter was my lonely reality. I hope that this letter will reach the beginners who are also feeling alone. It can be a suffocating feeling to take on something in your world that no one else in your world seems to grasp, but you are not alone and you can do this.

serenity 2

Hi everybody!

I just wanted to take a minute to let everyone know that today is the first annual Apraxia Awareness Day.

Apraxia is one of the most severe speech challenges in children. In childhood apraxia of speech, the brain struggles to develop plans for speech movement. As a result, children with CAS don’t learn accurate movements for speech with normal ease. These children have the words, they are just lacking the ability to verbalize them. There is no cure for apraxia, but with therapy children can overcome its challenges.

For those of you who don’t know, Andon was recently diagnosed with apraxia. I became concerned with Andon’s speech progress at about 18 months old. At first my doctor had no concerns because, on paper, his speech was age appropriate. I, however, felt strongly that he was delayed.

I remember that at 14 months old Andon said “turtle” clearly in the pet store and would yell “Adam” down the hall to get his brother to come and play. He was also able to say “daddy.” Those words were only spoken a few times and he stopped progressing. We started hearing mostly vowel sounds and “daddy” became “na-na.” I know now that the regression and vowel usage were signs of apraxia.

Andon started throwing tantrums when trying to communicate and it became obvious that he knew he could not communicate effectively. He was becoming old enough to have a very specific idea of things he wanted, but had no idea how to tell us.

For a short time I tried the strategy of holding the thing that he wanted until I got some type of speech effort from him, but quickly realized that this ended in disappointment and frustration on his part. I stopped any effort to advance his speech because I was at a loss. He communicated by nodding yes and no and by pointing.

I brought it up each time that I was in the doctor’s office and at 22 months old, I was referred to First Steps. I pursued the evaluation process which took some persistence. I asked a lot of questions and consistently voiced my concerns. He began speech therapy by age two and I quickly saw the therapist implementing exercises that would have never occurred to me. He was also more receptive to her efforts.

I was so relieved that we had finally gotten some help and expected magic to happen. Unfortunately, while we were finally seeing progress, there was no magic. The therapist was thrilled with his progress and with the fact that his evaluations were showing him above his age level in other areas. While I am very thankful for these things, I just expected speech to click quickly and for Andon to be 100% by his six month mark. After a couple of months, there was talk of apraxia and a little later he was officially diagnosed.

He is 32 months now. He applies himself and has progressed some, but is still rarely understood. We are learning what certain sounds and actions mean and are implementing sign language.

I’m realizing that I’ve been in some denial. I’ve just been thinking that his case is mild and that he’ll overcome soon. The reality is that it will likely be years of therapy before he’s close to age level. Now of course I know that it could be so much worse, but let’s face it, this life is challenging enough and no one wants to see their child start it with any additional challenges.

We continue working together. We celebrate with Andon when he succeeds with new speech efforts. It is so obvious that he knows when he has successfully said a word and is understood.

This letter is meant to raise awareness of apraxia. It is to tell you that apraxia was a new word to me and I’ve not met others who have heard of it. This causes me to think of all of the children who could be out there frustrated because they can’t be understood and of all of the parents who are wondering what they are doing wrong.

This story is also to tell you to be confident in your concerns for your children. It took some persistence on my part to be heard, but in the end it was rewarded. The therapist and his team at First Steps often tell me how wonderful it is that we started services early.

It is also important to me for people to see Andon’s potential despite his lack of verbal communication. Andon is very intelligent and loves interaction. It can be difficult to see these qualities in children with speech challenges. I hope this story can help you or someone you know who is dealing with similar challenges.

God Bless,

Sam

* To learn more about Sam, please click here to read her bio.

The Perfect Match

Please welcome Amber today. She is one of the four contributing writers who will be sharing posts on a regular basis. Here is a little more about this special mama …

Hi, I’m Amber and currently live in Southern California with my wonderful husband and beautiful children. The Navy will soon be sending us across the country to South Carolina. We have four children; a nine year old daughter and three sons ages four, two and a half, and eight months old. Our four year old son is diagnosed with oral and speech apraxia, hypotonia, and sensory processing disorder. Our two and a half year old son is diagnosed with apraxia of speech and sensory processing disorder. I taught public school for eight years before deciding to stay at home with our children. This is my second year homeschooling our daughter. We make it work around daily speech therapy, occupational therapy, and early intervention appointments. In the short amount of free time I find, I enjoying reading and sewing. I’m often told that I have my hands full, and my reply is always “Imagine how full my heart is…” I put my faith in God and know that He will always provide.

***************************************************** 

With a cross country move just around the corner, I am faced with one of the challenges I found most difficult in the beginning of our apraxia journey. I will be searching for new speech therapists for the boys. Believe it or not, this is the thing that worries me the most about moving our family of six from one coast to the other.

When Cason first started speech in 2012 with a diagnosis of suspected apraxia, Callen was a newborn and I was an overwhelmed mother. I looked for a private speech office that was closest to our house. I was going for convenience because I was tired from late night feedings of an infant and still getting used to having three children and trying to get everyone out the door on time. However, during those first two months I also spent a lot of time in online parent support groups and reading through articles on Apraxia-kids.org. I began to realize that while convenience was nice, it wasn’t what was best.

Cason’s first therapist had a good connection with him, but she spent a month focusing only on trying to get him to sign “more” and say “go.” I knew that sign language would be helpful for Cason while he was working on language, but I also felt he needed apraxia specific treatment at the same time. The therapist didn’t agree, so I searched for another office.

Cason’s next speech office location was definitely not convenient, but the staff knew more about apraxia. They also offered occupational therapy and could work with his oral apraxia and feeding issues. Cason began making progress within the first month of being at the new office. His SLP worked with him on vowel sounds and oral motor skills. I was so pleased with the new place, but I was still reading online that a key to treatment was frequent, intense sessions. Because of scheduling, the office could only see Cason once a week. So I set out to find another office.

They say third time’s a charm. Three months later, I found an office that was very knowledgeable about apraxia and believed that children with apraxia should be seen two to three times a week. They began seeing Cason three times a week and were using the Kaufman Speech to Language Protocol. I was so pleased with the approximations that we began hearing after just a few weeks. I was also happy the office was located a little closer to home. It was a win-win.

Fast forward a year after starting at the third office, and Callen began having speech sessions there also. They saw him twice a week due to his age and attention span. But when he turned two and received an official diagnosis of apraxia of speech, they began seeing him three times a week and also trained their staff in PROMPT therapy. For Callen, PROMPT has been more successful than the K-SLP.

So as we pack our bags and make the 2,400 mile trip, I will be searching for a new speech office that can live up to the excellent office we have been with for the past two and a half years. There are certain things I will be looking for and as my children’s advocate, I will not settle for less.

  • A staff that has ample experience in evaluating and treating children with apraxia.
  • A staff knowledgeable in treatments of apraxia- meaning they are trained in PROMPT and/or efficient in the use of K-SLP (because those two treatments are what work best for my sons).
  • An office that believes in frequent therapy sessions for apraxia- three times a week has been most effective for Cason and Callen.
  • Speech therapists that keep detailed notes of sessions and administer evaluations when needed- this helps when dealing with insurance and when needing to provide documentation to the insurance company for continued therapy.

These are just a few of the things I will be looking for as we seek out new SLPs.

What are qualities that you look for in a speech therapist that is a perfect match for your child?

* To learn more about Amber’s story, please click here. 

Extra! Extra!

Calling all mamas who did the 23andMe test for their child with apraxia!

In the next few weeks I will be sharing Jake’s genetic test results. I also have a friend who sent me her results as well. Although I haven’t started to compare the two to see if there are any similarities, I would love to add more genetic samples to the mix. I do not need names or personal information.

If you are interested in participating in this study, please send me an email at tstarmom5@yahoo.com. I will send you the details.

23andme

Second, tomorrow is the kick off for my new team of Contributing Writers! I am so excited to share these different voices and views with you on a regular basis. This week I started a workout/spirtual challenge over at www.peak313.com and the verse for this week is hitting home with me …

LASoulFoodWk1.001

 Amber will be starting us off tomorrow and she has written here before.

If you’d like to review her story again, click here.

Surviving to Thriving … A Collection of Speech Success Stories

It seems like all news is bad news lately … and it’s got me feeling a little pessimistic. Even in my personal life, people who I care about are struggling with different illnesses and problems. Life. Is. Not. Easy.

I think we’re all in need of some positivity, so today I share a collection of stories I’ve been compiling for the past year. Here are my favorite speech success stories that I hope fill you with as much faith, hope, and love as they did me.

These stories are a reminder that our children’s voices and obstacles do not determine their greatness. And keep it in perspective … success means different things to different people. We are not all judged on the same scale. Every person has their own strengths, weaknesses, and gifts.

Luke Farrell, Triathlete

I remember reading this CASANA article shortly after Jake got diagnosed with apraxia. I was in complete awe at this young Australian man’s success. Luke was nonverbal at four years of age and received an autism diagnosis. Once he began school, the autism diagnosis was dropped and was replaced with verbal dyspraxia.

However, Luke did not let his speech struggles define him. At the age of thirteen, after watching a triathlon on TV, he decided he was going to become a triathlete. At that point in his life he had never owned a bike or displayed any special running talent. Luke would go on to have a very successful triathlete career during his high school years.

The CASANA article, which was written by Luke’s grandfather states, “Luke hopes his story, which basically comes down to accepting his situation, learning to cope with it as best he can, looking to his strengths, and getting on with life, will offer hope and support to individuals, parents or families facing similar challenges.”

Kate Hennessy – Co-Author of “Anything but Silent,” College Graduate, Successful Film Career

The second I heard about the book “Anything But Silent,” I knew I had to get a copy ASAP. This book did not disappoint. I thought this mother-daughter collaboration about life with apraxia was fascinating and insightful. I was also extremely inspired by Kate’s determination to beat apraxia and to move into a career that focuses so heavily on communication. I also love that she wants to give back to the apraxia community and is often involved in CASANA events alongside her mom, Kathy Hennessy.

Jason Gray, Contemporary Christian Singer-Songwriter

Last night I decided to switch my somewhat boring, but educational piece on the vestibular system, with this one that you are reading right now. I was listening to music on TV while I was cooking dinner and a song came on by Jason Gray. I glanced up at just the right time to see a fact pop up that said he has a speech impediment, but it doesn’t affect his singing.

My mind is always wandering when I’m in the kitchen, so I got out my phone and googled his name. His story blew me away! He has a stuttering problem, but it is nonexistent when he sings. He is also a songwriter and I love, love, love songwriters. His testimony of faith, talent, and perseverance is deeply inspiring.

If you want to know more about Jason Gray and his speech impediment, click here to read this thought-provoking article.

Byron Pitts, Journalist

I jotted down Pitts’ name a few months ago because his story also interested me. According to his bio on The Stuttering Foundation’s website, “Byron Pitts has brought much attention to stuttering with his memoir, Step Out on Nothing: How Faith and Family Helped Me Conquer Life’s Challenges. The book not only details his speech difficulties, but also his illiteracy until age 12 and his unstable family life. Pitts overcame the odds to become the chief national correspondent with ABC News.” Need I say more? How amazing is that?!?

Albert Einstein, Genius

I leave you today with one of my all-time favorite quotes by none other, but Albert Einstein … the genius who was nonverbal as a child. In fact, I learned through my Google search this morning that it is suspected that Einstein had apraxia or Asperger’s. His brain was lit up differently. He had talents that no one else on this earth had. These words are golden …

quote einstein

What about you guys? Do you have any stories to share?