The "Rare" Butterfly Effect

The Miracle of the  “Butterfly Effect”

"Butterfly Effect"

We have all heard of the "Butterfly Effect" at some point.  Wikipedia simply defines it "is the concept that small causes can have large effects.”  Initially, it was used with weather prediction but later the term became a metaphor used in and out of science.[1] In The Vocation of Man (1800),German philosopher Johann Fichte noted that "you could not remove a single grain of sand from its place without thereby ... changing something throughout all parts of the immeasurable whole."

Living in the world of rare disease I have noticed, like Fichte, how one small change can have so many different outcomes. The accumulation of small things is not small I am guessing the same applies to any "sub" populations in which we live.  I have found The more you expose yourself to criticism the more people are quick to judge and pick you apart.  The more successful you are, the more genuine feelings and truths surface about how they "perceive" you and your "real intentions" behind what you are doing. Some of those are not exactly positive. This could go either way. People who were "nay-sayers" in the beginning all of a sudden see success and and try very hard to wedge their way back into your life to "get a piece."  Ones who aren't quite where you are, who have walked with you side by side to help; want what you have and snicker behind your back, envying you in your journey. Then you have "true friends" who stand by you, encourage you, don't block you out and are "gingerly" honest with you.  I realize it is nothing I have done to make people feel this way, I only hope that giving hope to others will rise above and overshadow the negative in this world.

Motives and Attitude:

I guess this brings me to my point. Our motives and attitudes drive the future of what you are wanting to achieve.  It can be productive or destructive. People tend to be judgmental by nature and how one presents their opinions and views can literally destroy the momentum of someone's mission.  I was warned in the beginning that putting yourself out in public would be difficult and to be ready to have a thick skin.  Wow!!! I actually questioned this notion and thought to myself, "Why would anyone want to destroy or bring down a great cause that could help so many?"  I had to sit back and think long and hard about why someone, ANYONE would want to do this.  People are out there doing that to people out of their own insecurity and lack of their own purpose.  How naive was I? Regardless, I see it as just that. A human weakness and struggle. I personally will try and continue to build people up regardless of how they see me.  I will continue to be myself regardless, of how I talk, dress and share my life with people.  I can't be everything to everyone. I hope that others don't expect me to be everything to them. We can only do the best we can and continue to fight the good fight for rare.  We should not see each other as threats, but assets to conquering a world we are already exhausted fighting for.  My vision is to see groups working together for the same mission, TREATMENTS FOR OUR LOVED ONES.  I hear this a lot, we are all in this together.. so if we are, let's work together and build each other up and not compete for it. Oh, and if you are expecting me to go into detail about the circumstances that led me to this post, well you will never know, because it just adds to the chaos and it's none of anyone's business.  Celebrate the victories and cry in the heartaches together. I think sometimes it's a good practice to stop and do a "heart check".  Where is your heart? Why are you doing what you are doing?   

Why I do What I do?

I have had several people question my motive and I am not really sure why.  I would think that it is natural to fight for your child to have the very best.  But amazingly, people still question my motives. No, I don't worry too much about those people because this is my calling.  I don't want a brownie button for doing something that I think any caring mother would do for her child.  I do however, find it a challenge when people tell me I can't accomplish what I intend to do.  Do not ever tell me I can't do something.  I will show you I can.  Many don't know what I did to continue the fight for my son.  It was very difficult to walk away from a 23 year teaching career, salary, benefits and retirement.  I have been told that was my choice to do so.  My questions to them. What stopped you from risking everything to help someone you loved?  Would you risk it all?  What stopped you from stepping out on faith to do the unthinkable?  I typically get the response of, "I don't have the resources or support to do that".  
Who said I did? If it's not there, you create it! Bottomline!  You have no resources? EXCUSE!  There is a big wide world out there at your disposal.  Use it for good and you will succeed. Don't EVER expect it to come to you, IT WON'T!  YOU GO GET IT! 

Yes, there are sacrifices.  I have paid many and still am, because I believe the cause I am fighting for.  I am just surprised that I still get judged for it too.  So my question would be... What would you give to make your child have the best quality of life?  For me the answer was simple.  I am doing what I need and will succeed.  I have sacrificed more than people know.  There are only a few who know my business and it's been difficult and excruciating at times to plow through.  But I stay the course. This is for my son, Beckett. I will not let people keep me from success of finding a treatment for him and others like him.  Know and understand that I will keep going.  People will judge, say no, have the wrong perception of and just flat out right not respect me and that doesn't matter. The right people will see me and my true motive and will get me to where I need to be to get my son and the others like him the help they need.  

After you read this...do a heart check... Why are you in it? Make friends, not enemies.  

Back to the Drawing Board...Again, But This Time... Expecting Change!!

Well....back to the drawing board.  Seems like Beckett didn't do so well on his Intuniv for ADHD.  I am thinking that he's not ADHD after all.  He became violent and his personality changed as we continued his dose over a weeks period.  He became a wild animal.  Biting, scratching, kicking, and the continuous screaming for hours.  For an entire week we had him on the Intuniv taking his dose in the evening and caused him to wake up during the night several times also.  I don't remember sleep deprivation that bad since the twins were infants. I had to take a 1/2 a day off work just to get some rest that week. We still have him on the Vayarin, which seems to be doing well.  We have also upped his dose of time released melatonin to 2.5 mg before bed. This has been a life saver for us because now he sleeps through the night.  He sleeps anywhere from  9 -10 hours at night.

Of course, once we started to get him regulated off the Intuniv, he ends up getting strep throat, AGAIN!  My poor boy has had strep throat about five times since he had his tonsils out a little over a year ago.  He actually told me for the very first time his tummy hurt, saying he had to "poo-poo", then throwing up all over the bathroom. That boy was sick.  I was shocked that he communicated to me he didn't feel well.  I was also very happy that he took the initiative to do so.  I am thinking that children like him also have a lowered immune system that is affected by their chromosome mutation.  He has been so sick as a child and he seems to be allergic to everything, especially antibiotics. They put Beckett on one of the strongest antibiotics they make this time.  I am hoping it works and knocks out the strep. Now that he has been on antibiotics for about 8 days, he has gone back to that sweet, loving boy I know when he is well.  The only side note to that, is he tends to be stuck in his terrible 3's.  He still continuously screams when he doesn't get what he wants, it's just easier to distract him when he is feeling better.

Beckett Playing at the Park

In the next few weeks we will be having a 20 hour EEG to determine if he is having seizures.  I am very anxious for this, because I can't help to think that this might be causing some of his screaming fits and high anxiety.  Sometimes he tends to zone out and just stare, then other times he just loses it and screams when he is told no, and once he gets started it is hard to bring him down from it. 
I pray for more answers.

In the mean time, I have been trying to gather information for Dr. Michaud and putting together a type of Parent Driven Study to bring families and doctors together to help with furthering Dr. Michaud's work.  I am still praying that there will be help for these kids and that things will begin to fall in place to create some type of organization to help families like mine and also help scientists fund their research on SYNGAP. 

If you are a family of a child or an adult diagnosed with SYNGAP, please do not hesitate to contact me.   

Feeling Joy In Life Again!

It's been a while since I have posted an update.  I have done some soul searching that past few months and have realized that I had let my circumstance's in my life take control of my joy and happiness. I realize that through Christ, I really can't lose my joy, but I can be sad and unhappy when troubles  come up; which is ok. I just can't let it paralyze me.  I am going through the stages of grief learning to accept the life my child and family has been given.  I have come along way from the sadness in the last few months. God has shown me that He gave Chris and I this child because He trusts us to take care of him and raise him in the light of Christ and will use him for His glory. God has given me promises through the Bible that I stand on to keep me strong during the hard days.

Romans 8:27-29
²⁷ And he who searches our hearts knows the mind of the Spirit, because the Spirit intercedes for God’s people in accordance with the will of God.
²⁸ And we know that in all things God works for the good of those who love him, who^[a] have been called according to his purpose. ²⁹ For those God foreknew he also predestined to be conformed to the image of his Son, that he might be the firstborn among many brothers and sisters.

Ephesians 1:11
In him we were also chosen, having been predestined according to the plan of him who works out everything in conformity with the purpose of his will,

I have to remind myself everyday that God is in control and that no matter what happens there will always be a purpose that God has a plan for.  I have decided to get involved with a couple of organizations that I can give of my time and also encourage others with a message of hope.  This helps me to give of myself and help others in times of trouble.  You just never know when God will open a door that He will allow us to walk through.  It really does make you feel better to know you are helping others.  It helps too minimize the magnitude of your own problems. 

I have also learned that when you let negative consume you, the good sometimes is over looked.  Beckett  has been a huge blessing to our family. His smile and laugh are contagious and when he laughs, you laugh with him.  I often look at him and wonder what I would have done without him.  He is becoming more receptive everyday and learning to do simple tasks.  He is beginning to imitate behaviors I never thought he would.  He watches me do chores around the house and follows me to do the same.  He helps load the washer & dryer and even tries to help put dishes away.  He wants to help sweep, rake the yard, pull the weeds..(well, sometimes my flowers), help his daddy push the lawnmower, bag grass and even help sand his play house for it to be re-painted. 

His speech is getting better also.  On Easter Sunday a week ago, Beckett said his big brothers name for the very first time..."Taylor"...not so much with the "T" sound, but it was pretty darn close.  We were so excited!! He sings to the radio in the car, and just loves Bruno Mars! 

I know that there are going to be tough days ahead and that I still have to take it day by day.  But the only way I can make it is through the Grace of God!  Otherwise, I don't know how I would get through it.  I really don't consider myself a "preachy" type person, but I am being real about my thoughts and feelings.  I do also want to note that I am so far from perfect and am human like anyone else.  I just want to share with the world what God has done for me and my family. 

Easter Sunday 2013

New Hope - New Friends

I have seen first hand how a person can go from one extreme to the other in about a week.  Life is strange sometimes. I feel bi-polar!  LOL!  I think I'm at a point where I don't think I'll ever get it, but just to go with the flow.  Sometimes the light at the end of the tunnel is so faint that you feel like your moving away from it and not to it.  It's amazing how life turns around just when you need it to.  You just hold on long enough for that to happen.  God knows exactly what to do and how to tell you it's going to be ok. 
In the past week I have had the opportunity to meet new people who are in the same boat as me.  I am so blessed that one found me though reading my blog.  I am so excited to be able to talk to someone who is going through some of the same feelings and emotions I am.  It has given me the determination to continue to have hope and push forward with whatever it is I am suppose to do....I'm still working on that one.  My new friend has introduced me to a new FB group of AWESOME people who have children that have Chromosome 6 Disorders.  https://www.facebook.com/#!/groups/chromosome6/
I really don't know what I would have done if I didn't have social media to be able to find people who are going through the similar things as I am. 

My Bean - Riding His Belle At Therapy

I also found a new hope in sharing my information on SYNGAP 1 with a person who works in a large pharmaceutical company.  She has told me to appeal to gene therapy companies to peak their interest in doing research on treating the functional gene with micro molecules.  I'm not really sure what that is, but it's worth a try.  So I now have a new goal to work on.  My energy is slowly coming back and my hope in a new day is keeping me going.  Only by the strength of the Lord can I do this!

Possible Treatment for SYNGAP 1 Gene

I have come across an article published December 10, 2012 that talks about the possible treatment for my sons disability.  I am praying that they will find one soon before the window closes on him.  Pray for a cure!  Read the article and pass it along to your friends you know that has a child with special needs or autism.  It could be a medical break through. 
http://sfari.org/news-and-opinion/news/2012/autism-linked-protein-sets-pace-for-brain-development








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