Happy Father’s Day 2018

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Champ 1 Champion Blog

 

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Photo by Zoltan Tasi on Unsplash

I decided to create a separate blog for Champ 1 gene mutation.  Let’s see how that goes!  I primarily created Esther Bautista Designs to be my blog about art, but as I have ADD and am all over the place it has morphed into many things.  I have been severely creatively blocked recently, trying to go back to school to get an A.A. in Psychology, busy, and in a rut.  So I am not flowing as I would like.  However, everything is up in the air and I will go with the flow of what works vs. what is not working.

 

I wanted to bring awareness to Champ 1 gene mutation which is what my daughter, Bethany has, and to help do something with my fellow group of “Champers” within the support group.  Many of them are looking for research and a cure for Champ 1 gene mutation!  I am not an outgoing person or a fundraiser.  I do have somewhat of an ability to write!  I may not be a good writer, but I can write!

So for my fellow followers I would like to direct your attention to my new blog for Champ 1 gene information, support, and research.

www.champ1champion.wordpress.com

I am hoping to keep my Champ information to this site, however; I may still post Champ related info here from time to time.  I appreciate all of my followers and I apologize for my disjointed blog.  I still struggle with keeping the focus of my blog on one thing which I am told that is a very good thing to do!

Thanks for your support,

Esther ~

p.s. feel free to contact me if you have any questions…

Diagnosis: Champ 1 Gene Mutation

Diagnosis: Champ 1 Gene Mutation

by Esther Bautista 

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Champ 1 Gene mutation is a newly discovered mutation on chromosome 13q34 which causes intellectual disability and severe speech delay among other characteristics. My daughter Bethany was diagnosed 12 years after birth January 2015.  Up until that point we had been through numerous doctor visits with specialists such as: neurologists, genetics, and endocrinologists. She had undergone numerous genetics testing through UCLA and UCSF as well as through her local pediatrician.  And with the help of Julie Jones at Greenwood Genetic Center in South Carolina her Champ1 Gene mutation diagnosis was discovered. 

Now with our diagnosis we are somewhat relieved.  We have a label.  But what we do not have is a lot of information since this is a new genetic mutation.  We do have a parent network online to share information and support in our journey.  So far there are only 30+ Champs world wide.  

I would describe our Champs as on a spectrum like the autism spectrum with varying levels of ability.  Some Champs are diagnosed as autistic, but not all.  My daughter Bethany has autistic tendencies but does not have autism.  She is a very happy girl.  She is 14 years old and attends a special day class.  She loves playing with water, dancing, music, and eating!  Most of the times she has a very happy demeanor.  Very rarely she seems to be sad and she has a brief period in which she will cry.  But as I said these events are extremely rare.  

Bethany is non-verbal and in diapers.  She communicates to me by blinking her eyes.  One blink means yes.  We have yet to get the two blink down for no.  Sometimes she will say: “Momma, uh uh, up.”  But her speech is extremely limited.  A lot of time I am guessing as to what she wants.  She is not advanced enough for adaptive communication devices.  I try to give her choices such as showing her food options for meal times.  

Bethany was 8 years old when she first learned to take independent steps.  She can walk really well today, but has balance issues and can easily get off balance and fall.

Some other characteristics that are common in Champ 1 gene mutation are: microcephaly, hypotonia with motor delay, and facial dysmorphic features, and some seizures.  

Here are some very technical medial articles on Champ 1 Gene Mutation:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564986/

https://ghr.nlm.nih.gov/gene/CHAMP1

Undiagnosed (Short Documentary)

Chasing Rabbits

Happy Easter! Jesus is still the reason for the season…

I am very introspective. I am still searching for something. Answers. Peace. Something.

What I realized is the most of my life I have been chasing rabbits. Dreams that were really just fantasies.

The dreams lead to disillusionment with life because life never lives up to a dream. And not all dreams come true…

Some people are born to sing. Some people are not. And it’s quite painful when you keep trying to do what you were not created for.

This has been me. Always wanting the spotlight, stardom, or fame. Thinking that somehow that will bring value or validation to who I am.

Don’t get me wrong, I still struggle everyday. But at least I realize I’m chasing rabbits again!

Trying to hold on to something as if it’s eternal when it’s not.

What I want / need is something eternal that can never be taken away. I want a value on my life or to value my life.

God said He loves me. And so much that He gave His one and only Son to die for me so that I could be forgiven and have a relationship with Him that can not be broken.

This is the eternal worth that I look for and only need to accept.

I still have questions. And that’s okay. Humans are curious creatures.

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Photo by Francis Delapena on Unsplash

Creative Blocks…

I have been very much creatively blocked recently.  I’m trying to remember when this all began.  As a creative, I tend to feel things too deeply and take things too personally.  But I think my creative block has to do with my emotions and or a lot of negative emotions within me.

I don’t think I have a problem writing because I am very good at rambling in my blog posts.  But as to whether it is good or bad, I guess that is subject to opinion.

Somehow I must integrate the negative aspects of the past into my present so I can move past it.  It is difficult.  The emotions keep me blocked.  I would try to express them in some way but honestly artistically I am not producing anything of value. (I guess I say to myself. Perhaps others think it’s valuable. IDK.)

I did create a meme yesterday birthed out of cynicism I suppose.  But maybe cynicism is not a good producer of beauty.  Here it is:

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Okay, so yea…that is all I have produced creatively lately.  Sometimes I think of throwing in the towel on this blog.  What I realize is that I am not good at keeping my blog to the point for which I originally created it…and that was being creative!  And again, I reaffirm my commitment to not do anything for monetary recompense.  That never works out.  Money seems to ruin a lot of things, in my opinion.

I apologize to my audience, if I have one, for being so morose.

Does anyone have any requests? Comments? Etc?

Boundaries and the Church

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Photo by Tim Wright on Unsplash

I learned the hard way about boundaries. I never really knew what boundaries were growing up.  They are very important.  Some of my current life rules are:

  1. Don’t think too highly of yourself.
  2. Don’t think too highly of other people.

For some reason I have tended to idolize people.  I thought people were so great and perhaps that they could do no wrong. Lol.  There is certain things you grow up believing until one day your bubble is burst and you know the truth and it sets you free or leaves you greatly disillusioned!  For me it was both…

Consequently, I do not idolize pastors anymore, leaders, or husbands.

But this is a good thing.  It was a very painful lesson to me as well as other people.  I was a fringe member of the group so I was not as abused as the inner circle.  But I still have scars.

Just because someone is the leader of a group of people doesn’t make him a dictator. In all groups there needs to be a form of checks and balances so that power is not just in the hands of one man for that is dangerous.

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So now I believe in freedom.  I should be able to pray to God myself and “hear” from Him myself.  Though I am no longer a radical.  No, you won’t find me running around grabbing people and praying for them or speaking in tongues.  I am much more conservative. I pray quietly.  I don’t like the fan-fare or hoopla. I like the sound of silence.

I am not sure what I thought before.  My mindset was rather crazy.  I am not sure why I thought I had to go to the pastor for any and all decisions I was going to make. That made him more of my god than the God! Now, I know better.

The church is an entity. But we are people.  People can do good things, but it’s human nature to error.  In my opinion, when leadership errors they really should do something about that.  They should be held accountable.  They are in positions of power and they have many people looking to them.

Who spends years building a church only to run away?

So I encourage people to think for themselves nowadays.  People have agendas. Maybe that sounds cynical but it’s true. If you are in a church or group and something doesn’t feel right, listen to that feeling. You should have the right to disagree.  You should have the right to dissent.  You shouldn’t feel afraid to question something or someone.  Basically, you should have freedom of choice and freedom of voice.

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Photo by Ben White on Unsplash

Poetry Corner

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Photo by Austin Dixon on Unsplash

i can’t wait to not be human

I can’t wait to not be human,

to shed my spirit of its earthly form-

to experience glory-

and be reborn.

I can’t wait to not be human,

free from conflict, politics, and wars.

I can’t wait to not be human,

at peace with my soul at rest-

I can’t wait to not be human,

no pain or mental test.

I can’t wait to not be human,

glory waits for me-

I can’t wait to not be human,

when i’m finally free.

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Photo by 小胖 车 on Unsplash

Who Are You; Personality / Temperament Designations.

In my obsession with personality and temperament I have found the following tests:

The standard psychological Myers-Briggs personality testtake here for free…no it’s really free!

I just learned about “The Big Five” from Lewis Goldberg.  Take here for free.

The Four Temperaments – I remember my mother mentioning years ago.  Take the test here for free. 

Also read this book: “The Four Temperaments” by Randy Rolfe

Other aspects of who you are could be your high sensitivity (or not) read: “The Highly Sensitive Person” by Elaine N. Aron

And then are you on the spectrum?  Here is another test to take: Autism & Asperger’s Quiz.

How about Attention Deficit Disorder (ADD) or Attention Deficit Hyperactive Disorder (ADHD)? Take test here.

*What does it all mean? You are a unique individual. Even though you may fit into a category, label, or box does not mean that is the total sum of who you are! You are fabulous, marvelous, and unique. This information is merely a means to get to know who you are and what makes you tick! Take it with a grain of salt.

The Trouble With Words.

I have noticed a huge problem with my communication and how I relate to the world recently. One of the issues is that when I attempt to communicate how I feel it does not mean that those to whom I am speaking with understand what I am saying. I use to get quite offended and defensive about this and then spiral into feelings of shame and depression.

I have identified myself as a late-bloomer. And I see that some people associate that with burgeoning puberty or attractiveness. But that was never what I meant by the word.  This is my definition of being a late-bloomer as written by dictionary.com.

noun

To me this has been a process of figuring out who I am rather than who people told me I was.  One of the difficult things for me is that I am not very good at face-to-face meetings especially with people I don’t know well. My verbal skills are shaky at best. I am much more comfortable expressing myself through writing. And a lot of people don’t understand that.

As the world seems to me predominately composed of extroverts (“Researchers estimate extroverts make up 50 – 74 percent of the population.”

https://www.psychologytoday.com/blog/thrive/201205/are-extroverts-happier-introverts)

I have often struggled with feeling greatly misunderstood, isolated, and alone.

Sometimes when meeting extroverts, I feel wrong because I get the vibe that I am suppose to be like them.  Especially when they stare at me and say: “Why don’t you talk?”

The truth is I do talk.  But I don’t do public speaking very well.  I want to have time to think about and process what it is I am going to say.  And in this fast paced society, I guess ain’t nobody got time for that!

In addition, I think the only reason I would give a speech is to jump through the hoops of the education system which requires speech for a higher degree.  I will drag my feet kicking and screaming on this because I do not like speech. And furthermore I feel there are already plenty of people yapping their yap in this world and people don’t need to hear from me adding to noise pollution.

I have often systematically set my life up to avoid having to talk in public.  I guess some would say immersion therapy would cure my ills, but what if I don’t want to be cured? As a mom and caregiver…I see no need to speak in public.  Until I learn otherwise we will just leave it at that. 🙂