JEANS FOR GENES!!! Wear jeans on Feb 28 to show your support for RARE GENES DAY!

Share for Rare! Jeans for Genes....Wear jeans Feb 28 to show you care! I love my son Beckett who has a rare genetic neurological disorder called SYNGAP1..

Past Memories - Beckett @ 7 months old

I realize that this is a long video, but we wanted to capture Beckett's behavior, facial expressions, motor movements and over all reaction to certain stimuli (the vacuum).  Please ignore the last couple minutes, my husband seemed to get creative and video me vacuuming the curtains...SMH!  LOL!  At this point in time Beckett could not sit up, crawl, had very uncoordinated movements, was very sensitive to sounds. As you can see in the video he suffered many months with acid reflux.  I knew at 4 months that something was wrong when he could not hold his head up, grasp toys, or sit up on his own.  He screamed during bath time.  We could bot figure out if it was the water temperature, being naked, or the feeling of the water itself.   He was a very happy baby for the most part.  As you can see his twin sister was functioning at normal age and hitting all her milestones.  I believe that Beckett being with his twin helped model behavior and help his imitation of play.  About 6 weeks after this video was made we had put him in physical therapy.

The video below is the first year Beckett was in the Early Childhood program in our public schools.  This is one of the moments I treasured and knew that he had an idea how to comprehend some things.  I was so excited.  He was 3 1/2 in this video.



New Year - New Goals

It's been two weeks since Beckett's epilepsy diagnosis.  He seems to be doing well on his medication.  We started with 2.5ml of the Zonisamide liquid and we upped his dose to 5ml last night.  He looks to be more aware of his surroundings and not so confused.  He has been making more sounds and communicating much better.  He actually sits and watches cartoons much longer than he ever has.  I have always thought that the flashing, flickering lights from the TV caused him to be distracted and triggered some of his epileptic disturbances.  It's like a new world has been opened up for him. He seems more aware and his receptive speech has increased substantially.  The unfortunate thing is I think this has triggered his terrible 3's again.  His "awareness" has made him a little more independent, resulting in the attitude of I want what I want...NOW!"  For example, every time we get in the car and start to go somewhere, if it's not where he wants to go he throws a wall-eyed fit!  I'm not really sure how to pacify him at this point, but like everything else; trail and error.  One thing I have noticed with him on the medicine, is he loves to sing.  He can hum a tune almost exactly at the same pitch as the song.  He knows what comes next in the song.  I wish he could talk.  Sometimes I think he is not as slow cognitively as once thought.  He just has no way to communicates what he thinks or wants.  He is making slow progress.  I try not to worry about the future, but it is always in the back of my head how he will be when he gets to be in his teens and adulthood.

Playing at the Park on the BIG slide!

My goals this year are to try and find a way to get him the therapy he needs, start a foundation, and find a job that is more flexible and to get my thoughts and worries under control.  I never imagined how hard this life can be.  A lot of my frustration and worries come from the feeling of not getting the support we sometimes need from people.  This can be a very lonely journey.  Most people just go about their daily lives and don't give a second thought about how they can help.  Sometimes by help, I mean just watching the kids for a night a month so that my husband and I can spend sometime together.  People don't know how it really is unless they live it.  Sad part is, most don't want to know, so they just avoid it and exclude themselves from the equation all together.  So I try and let it go and continue to chug on.  That's all I can do, sometimes that's all there is to do.  I do pray God's blessing on my family.  I know he will come through as always, even though I have to admit I get angry at times because He doesn't move as fast as I would like.  But all in time, right?  I am thankful for the strength He gives, because some days I really don't know how I get through them. 

Hiking along Cypress Creek

EEG Results are in...

Beckett was just diagnosed yesterday with atypical absent seizures (borderline epileptic). Will be officially diagnosed when he has 2 full blown seizures. Technically he has an abnormal EEG. The doctor has said even though he has not had any real seizures yet, he is at a high risk for having them. He has 2 types of epileptic activity going on in his brain. He has what they call epileptic disturbances which are a pre-episode of a full blown seizure, they just don't reach full capacity of a seizure. These disturbances are what causes an interruption in his learning and can cause confusion and meltdowns. We are treating those with a new liquid sulfur based drug that is used for migraines.  I am hoping that the medication will help elevate some of the absent type seizures he is having and hoping that it will help him to be able to learn and improve his memory.  It just seems there is a never ending medical string of diagnoses for my baby boy. I am hoping that one day he gets relief from the endless confusion he experiences.   

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.   

My Special Boy: Breaking Out of the Bad into the Good!!

My Special Boy: Breaking Out of the Bad into the Good!!: Well...you know I had to incorporate something in the title of one of my favorite shows on TV, Breaking Bad..LOL!  Yes, the finale is tonig...

Breaking Out of the Bad into the Good!!

Well...you know I had to incorporate something in the title of one of my favorite shows on TV, Breaking Bad..LOL!  Yes, the finale is tonight!!  It is a very thought provoking show that has made me think about how people can take two different paths on how to deal with "Bad" things that happen in life.  Of course, this series took it to the extremes and showed the desperation and obsession one man had to live his life like he wanted and also try and justify it by using the excuse of taking care of his family.  Funny thing is, I think we have all thought about the "what if's?" and then just continued on with the life we have been dealt.  I guess this is where our belief's and values come in. I whole heartedly believe that God puts us in situations either to teach us something or to prepare us for something we will have to deal with in the future.  But He is where we get our strength.

This whole experience that my family and I are in with taking care of a special needs child has allowed us to meet people we otherwise would have never met, showed us that sometimes our plans aren't as great as what God has for us, and that we can live with the trails put in front of us and come out stronger that we ever thought.  People say to me all the time, how do you do it?  I think to myself and laugh that, "I just do!"  You could too if it was put in front of you, you are forced too. Most of us think we couldn't because of the things we would so selfishly have to give up.  But you just do it because you love your child.  What else would I do?  Lock him in a closet somewhere and throw him some food and water every now and again?  He is my son and is a person that God created and has given him to us as a gift.  We are charged with taking care of him. 

Over the last 9 months since Beckett has been diagnosed with SYNGAP1 I have come to know many people that are going to be life long friends and am excited that we can be a support for each other.  We together are working on a way to raise awareness and hoping to begin a foundation that will raise money for research and to help families like ours with medical financial needs.  Of course, we are looking for a civil attorney that can donate their time to help us out with that..so if you happen know anyone..send them my way! ;)  

Since my last update on Beckett, he has begun to say more words.  This morning he called for his daddy to come get him and has said the phrase "Help Me!".  We have him on a new medication called Intuniv that helps him with his impulsive behavior and acts as a mood stabilizer. We have had to adjust it some as at first it made him sleep 16 hours a day. He takes it one time a day. I think we now have it set to where he takes it at night before he goes to bed and helps him not to be so sleepy.
Over all, Beckett is still making slow progress, but it's progress.  He still has his daily meltdowns afterschool, but we are working on those and my "art of distraction" is getting better.  We still take everyday as just that, day by day.

And you know I couldn't just end my post with that.  I have to share how proud I am of my oldest son for graduating from the United States Marine Corp.  He has made me so proud too! 

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

 

Tomorrow is National Mesothelioma Awareness Day!!! Sharing for a Friend!! Please Read and Pass On To Others!

 Sharing for a Friend!! Please Read and Pass On To Others!

 

Tomorrow is National Mesothelioma Awareness Day!!!  Please check out the link to our page that has all the information on how to participate: http://www.mesothelioma.com/heather/awareness/

 

Video Story:  http://www.mesothelioma.com/heather/