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.  

The Power of Determination - A Mother's Love

I have learned over time that the only way to move forward and accomplish your goals is through the sheer will of determination and the recognizable path that God has place before us.  Obstacles get in the way of people everyday. How they over come them is not by chance, but by the will to push through with the determination, I believe God instills in us the willingness to be guided along that path.

Problems arise and they are tests that keep us on our toes.  They are put there to see if we have the trust in Him to keep moving forward while not knowing the outcome.  Faith and trust go hand in hand.  Things will work out knowing that what will be, will be and is not under any control of our own. That is the belief that drives me to accomplish the objective that is set before me and the peace within me that keeps my mind clear of the static around me. 

My vision is clear and the path I walk is full of things I stumble on and tread through with only the strength from the good Lord above.  People have been placed in this path to either help or hinder, and it is through discernment to make decisions for what is good for the purpose that I have been given.

I will do whatever I can to help complete the goals and mission of our new foundation.  My purpose is to lead and follow through with the plans of our set mission.  I will not stop and will not give up.  The children are too important and the families that endure the hardship of raising a child with special needs will not stop either.  That will, that determination is what keeps me going.  I want to make a difference in the world.  I want to help change the world and not for money, fame or notoriety.  I want to make a difference for the better of people because it is what we are suppose to do.   I do this for my son, I do this for my family and the families before and after me.  I do not do this for me.  The power of determination in me will accomplish the goals I have set to help those who can't help themselves.  I will not stop until I am dead and have gone from this Earth, but hope to leave a legacy of the power of one can turn into many to help others in need.  That is why we are here, our purpose.

And We're Off

It has been a crazy two months.  The foundation has taken off and we are working on development, awareness and a patient registry program.  We have also started developing our website www.bridgesyngap.org.  The response has been wonderful.  On top of the foundations progress, Beckett has been making some of his own. 

We have since raised Beckett's seizure medication (Lamictal) and when he is not sick, progress is quite faster than expected.  His words are becoming more and his articulation has been where you can make out what his needs are.  It helps that he points to what he wants.  We are still having our moments of the frustrating melt downs and the constant running around like a motor won't turn off.  But it seems to cycle every couple of weeks and when we up his dose of medicine he levels out and acts himself.  Since Beckett was a baby he has been sick about every 3 - 5 weeks and on antibiotics and it seems like all the time. We have had his adenoids and tonsils removed, but his frequency of strep infections has been countless.  We are adding another specialist to our list in April.  We are taking him to see an immunologist to see why he is sick all the time and why he is so prone to strep infections.  My concern is that the frequency of antibiotics he takes are beginning to show their ineffectiveness of fighting strep and looks to be antibiotic resistant. 

We wanted to share with you a video of Beckett and his twin sister riding their first carnival ride together for the very first time.  I was so excited that they were able to share a moment together, with no adaptations, no restrictions, no worry and the excitement of being a 6 year old kid.  I was so proud of both of them hanging on for dear life as they spun around.  Well, He let go a couple of times which scared the poo out of me, but it ended up being a great day for everyone:)

Tired...

This is the part of the year is where it really gets hard to get up in the morning.  The same routine for approximately 187 days. Starting with getting up, organizing backpacks, fixing lunches, gathering clothes for school, making breakfast, getting dressed, doing hair, make-up, pouring a cup of coffee to go, grabbing the purse & backpacks then throwing kids in the backseat and go! Whew!  That's a mouth full!  Granted, I do understand that it is probably half the population of working women with children that carry out the same routine, but to add to that the harder days are when I have only had about 4 hours of sleep. This is due to Beckett getting up during the night and trying to get him back to sleep, if he ever does. It's even harder to get up at 5:30AM and do all of the above plus tack on entertaining/teaching a bunch of squirrely 6th graders science. But I have to laugh at myself when I have to top off the day like it started only to come up with an explanation to why they are going to need it in the "real world".  Makes me want to stick pencil in my eye!  LOL!  I am happy to say I am glad I only have 42 days left of school.  It's been a rough year this year.  I sure hope next year is much better and less tiring.

 

I am waiting to find out if Mr. B will be able to attend an ABA program here close to us.  If he does happen to get in we will have to find a way to get him there in the morning since I am working.  I am hoping that an online teaching job comes my way so that things will be a little easier to get him there.  We will be going back at the end of April to find out if his seizure medicine is working like it should.  I am thinking that it possibly is going to have to be changed because of his sleep disturbances and irritability increasing during transition times.  Another item on the list that I am going to have him checked for is a condition called PANDAS.  It is an autoimmune disorder that affects the brain, heart and joints when the body is exposed to the Strep infection antibodies.  We have noticed over the past few months that Beckett literally turns into a different child when he has a Strep infection.  So that is on my list of thing s to talk about when we return to the neurologist. 
I am hoping for some answers and a solution to some of his sleep problems.  Sleep is a good thing...I wish I could have more of it!

Ohhhhh....The Joys of A 20 Hours EEG...And we're only 9 hours in.....

Well today is the day for Beckett's 20 hour EEG.  Stick me with a fork...cause I am DONE!! Poor baby came in all in a riff last night because not having him on his routine. That is a big NO, NO!  I was already sweating when I hit the door of the hospital carrying with me 4 pillows, a rolling suitcase containing toys and clothes, an ice cooler with food to get us through, my purse and then Beckett in tow.  You would have thought I was moving in.  None the less, we finally got in.  After the attendant brought us back, Beckett just wasn't having it!  He ended up pooping in his pants.(seems he does that when he doesn't want to be somewhere) had to change his clothes then get him to take his time released melatonin WITHOUT ice cream.  LOL!! Yea..they got all that on video...Well, after I struggled to get new clothes on him and cleaned up, the melatonin started to kick in.  He finally fell asleep with me holding him in this little bitty chair they have in his room.  I sang and I rocked, I sang and I rocked..repeat...LOL! My back was killing me in this little chair and I'm looking around in, asking myself..I'm really going to entertain this child for 20 hours in HERE!!! They MUST be crazy!  On top of that..sitting in this chair for about an hour and a half, I had to go pee!  REALLY BAD! I realized..they don't even have bathrooms in these rooms.  HOW STUPID!  At least they have a sink so I can at least run the water and make me need to go pee more!  UGH!


 On top of all that, the electrodes were finally on.  BUT..and yes that was a big BUT! There was something wrong with the wires or the box.  So now I had too try and keep him asleep so she could trouble shoot the wires so they could get a good read.  I was actually surprised that he stayed asleep for all of it.  Now only to get him into the bed without waking up.  YEA RIGHT!  You got it...Murphy's Law!  When something can go wrong it will.  Someone really needs to go shoot Murphy!  Not even 2 seconds after I laid him down, he's up!  Yep! And I still can't go pee. My eyeballs are floating!  LOL!  Yes, sometimes that is all you can do is laugh just to make it through.  Time in is only 4 hours and he has only been hooked up for 2 of those. Finally around 1am he dosed off long enough so I could slip out and go relieve myself.  Then I came back.......get in bed next to him thinking I can get some shut eye too. NOPE!  Beckett gets up and decides to poke me in the eye after I dosed off.  He thought that was great fun!  The tech had to come back in to readjust the probes because he figured out they were on his head.  Now it's a game.  He is just laughing it up, loving the fact she is messing with his head.  He is super sensory and I think the pressure of her pressing on his head to put the electrodes on gave him some sensory input.  He was up now!  I am thinking to myself, "He'll never go back to sleep and they are gonna send us home".  I gave him another milligram of melatonin to see if that wouldn't get him back to la-la land.  Finally, at 3 am he fell asleep.  Of course at this point my back is killing me and I am so tired I have become delirious. So I am up now at 6:30am watching my boy sleep wondering what his little brain is doing.  Hoping I can make it through the next 11 hours.  We shall see!  I'm going to finish my cup of coffee now:) 



Sleeping Cutie Woke Up!...but we made it through 12 hours and said they got a good read..so we can go home now!!

 

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.   

I do, because you just do...

..yes..life is not always greener on the other side.  It's hard to remember that when you are feeling sorry for yourself and wishing it was different, how things could really be.  People ask me all the time, "how do you do it?"..you just do because you have to..you could to if you had to...

Please watch...I have to remind myself everyday not to wish for something different..because it could be the kind of different that you would never think.

https://www.facebook.com/photo.php?v=10200907170114838&set=vb.351443748204703&type=2&theater

 

Summer is Gone...AND NEW MEDICATION IS HERE!!!

It's been crazy busy around my house these last few weeks.  I have once again started another school year.  This is my 19th year of teaching to be exact.  My husband and I have been teaching at the same school for 11 years, beginning our 12th.  I have 9 years and 173 days till I can officially retire from teaching.  But who's counting?  ;)
Since school has started I don't have preschoolers in my house at all.  Kind of hard to believe that my babies are growing all up.  Pyper has started Kindergarten and Beckett has started a half day PPCD and is being mainstreamed in Kindergarten the other half of the day.  I am so relieved to find before and afterschool care for the twins together.  Our FAC has accommodated us way above and beyond what they had to.  They have just loved on Beckett like he was their own.  Everyone in the Athletic Center knows him.  He's a charmer!  I know this is an answered prayer for us.  My stress level has come down a lot! 

Pyper and Beckett's 1st Day of Kindergarten

 

I am also pleased with the new medication he is on.  It is called Vayarin.  This is a medical food that is prescribed by the doctor.  It's primary use it to treat ADHD.  Beckett does not do well on stimulants. He freaks out when he comes down off them.  This particular "drug" is highly concentrated Omega 3.  It is formulated to pass through the blood brain barrier and is more able to affect the cells and provide the protein they lack.  This medication usually takes about 2 months to see the effects.  I saw a huge difference within 2 weeks. Mostly, I have seen an incredible difference in his speech.  I am flabbergasted at how he is now beginning to make more sounds, words and phrases than he ever has in his life.  I also have noticed a difference in his attention span.  He actually sits down and watches TV and videos on the computer for about 30 minutes at a time.  Before then that was unheard of.  He also seems more aware of his surroundings and tries to engage more with people.  Even his speech teacher at school has noticed a difference in his attention span and speech clarity.  This medicine has even chilled him out some.  He seems much less anxious about things.  This has been a medical miracle!!  He also sits and plays with toys and imitates more so than before.  It also could be that he is maturing a little bit too, but overall I am very pleased with the results of this medication he is taking. 

Poor Beckett had to have a tooth pulled this week.  When he fell on his front tooth in December swinging in a hammock, he again hit the same tooth and it abscessed.  So needless to say, having it pulled was an experience.  He is my little snaggle tooth now.  After some "happy juice" an some nitrous oxide, the dentist pulled his tooth out with out any struggle.  He did really good..and of course while they had him "loopy" they cleaned his teeth for the very first time. 
So far, it has been a great start to the year.  Now just to keep the routine!