I Can Change The World!

It's been quite a while since I have posted an update on Beckett. Since the start of the new year we have been full speed ahead.  Beckett has started a new medication which in addition to his Lamictal has helped him control his meltdowns and sensory overload.  He has been on Clonodine for the last 6 months.  It has been a life changer for us.  His meltdowns are minimal and his cognition has improved over time.  We still have the occasional tantrum, which is expected.  But this is nothing like from years before.  The hours of screaming are gone and it is much easier to redirect his behavior.  He is now at a daycare where the children and workers love on him.  I see him truly happy and there has not been an issue with him at his new after school care.  The foundation is taking off.  We are full speed ahead and are focusing on building our programs and planning a long lasting strategy that will sustain our mission.  My new motto has become #NEVERSTOPPING.. because until I am 6 feet under I am never stopping.  My hope grows stronger for these children every day.  The great scientists and clinicians who are walking by our side all the way are going to help us get there.  There is so much to say and do.. but to keep this short there is one picture that says a thousand words.  A picture that my Beckett brought home form school said it all.......

He has changed my world.......

What a Crazy Life!

It's been quite busy since the summer.  It has been really hard to just stop and take a breath.  School has started and I am in the thick of working the foundation.  Things have been amazing though. Life has just been lining up and all in God's timing.  I can honestly say that I have never quite felt so at peace and enjoy every minute of work I do to help further research and awareness. It is so true the old saying goes "You never work a day in your life, if you enjoy the work you do".  That is exactly how I feel.  I have an amazing group of supportive people surrounding me, encouraging me and walking every step of the way with me.  I couldn't do this without them, nor would I want to.   I am truly blessed by the people who have entered my life.  I don't think I ever knew what it meant to be fulfilled and all just by helping those who can't help themselves.  People are my passion! Yes, there are some people who are just plain jerks, but I guess life hasn't hit them in the face yet.  Typically, when life hits you real hard, you are given a choice.  Take notice and change to make it better or be a victim of your own circumstances.
Ok, I still get whacked around by life sometimes and they aren't so great, kinda like what happened a couple days ago.  Here's a quick back story on our Beckett.  We have had issues with him getting sick with strep numerous times. We are trying to balance out his medication and make sure his seizures are controlled. His hyperactivity was needing to be brought down a couple of notches. So the medication balancing act has been on going for the last few months.

Well.. We tried something different .. Umm.. Big mistake! I thought well.. Beckett has been doing ok so far in public places no meltdowns in quite sometime..to no avail!! I take him with his sister to watch the last part of her daddies football game. That lasted all but 5 minutes. Beckett decides he wants to go up the bleachers. Welp, this momma thought oh God!! I'm in trouble now! Sure nuff that boy in front of God and everyone pulled hair, screamed to to top of his lungs like I was killing him. Of course half the Stadium was filled with my parents and my students. You could hear a pin drop in the middle of each of his breaths to scream again. I was mortified for about one second and wanted to cry. But I didn't.. But our police officer who is on our campus came to us and calmly helped me with my child. He walked us to the car as he was screaming. He looked at me and said "it's ok momma" I looked at him and said this is why I will never stop looking to help my child lead a normal life. He said.. "I know.." And he smiled through all of the screaming. Then I got in my car and cried..I cried all the way home. This meltdown was nothing like I had seen in a while.  I finally got his medicine down him and bathed for bed.  Through all the screaming and crying, he finally laid down in my bed and fell asleep next to me.  I was alone at home and I had left Pyper with her dad.  The silence was golden. I very gently scooped him up, all 67 pounds of him.. (that's why I workout, that kids is heavy) and carried him upstairs to his bed.  When I came back down stairs I sat down and the tears just wouldn't stop.  I couldn't quit crying.  It felt good though just to weep.  I didn't feel sorry for myself.  I was just tired and scared.  Scared of what the future has for him and us.  A flood of anxiety came over me, but as fast as it came it left.  It was the hope that we (our SYNGAP families) are building something that will change peoples lives.  It is something I can't stop just because I am tired, so I thought.  I guess I had to give myself permission to rest and just not think about anything. I had to mentally and emotionally push a reset button.  I think that time to let go was what I needed to put things in perspective and remind me of why I am doing what I am doing.  It's to help better other lives, not just my own. That's hard being the naturally selfish people that we are.  Sometimes a good smack in the head keeps it level.  So here's to life and to one more day.  Bless those who bless others, that is what life is about.  

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.



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!!

 

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!
 

New FB Group for SYNGAP

Anyone who is a parent or caregiver of someone who has a variance in the SYNGAP gene is welcome.  Please join us to connect with other families who are dealing with similar situations.

https://www.facebook.com/groups/SYNGAP1CONNECT/

Thanks!




 

NEW FACEBOOK PAGE: Parents and Families of People with SYNGAP1

I have created a new Facebook Page to connect and educate families around the world with SYNGAP1.

This disorder is also known as MRD5, RASA1, RASA5, SYNGAP.

https://www.facebook.com/Syngap1?ref=hl

You are not alone!!!

 

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I AM ON A MISSION!!!

Please pass this on to any families that you may know that would benefit from this information. I have some great news!! I spoke with Dr. Michaud last night about my son's Syndrome SYNGAP1. He has ask me to help him find families of children who have been identified. He is working on defining the condition to continue his research. He is the doctor who created the test for SYNGAP1. This syndrome has children who have characteristics of developmental delays, severe language delay and many other symptoms that are mistaken for other things. Autism Spectrum Disorder symptoms and possible seizures can be seen in some of these children, ...but not all. Mostly this syndrome causes Intellectual Disability. He has ask me to invite ...families who have this diagnosis to contact him to help him define conditions caused by SYNGAP1. He has told me that once they have an official definition has been made, research can continue to the next step of starting more ...
studies in humans, since they have mouse model data. Please share this with parents you may know who have autism or unexplained symptoms to push their doctors to get genetic testing. This is huge, because most people settle for the autism diagnosis and stop there and don't push for testing. The more people out there who are identified, the more money for research, then research for possible treatments can be done. So..needless to say...I'm on a MISSION now;)

Please watch the video on SYNGAP1
http://www.youtube.com/watch?v=6NE7FgFBO_o

 Jacques L. Michaud, MD
Head, Division of Medical Genetics, CHU Sainte-Justine
Professor of Pediatrics and Biochemistry, Université de Montréal

CHU Sainte-Justine Research Center
3175 Côte Sainte-Catherine
Montréal (Québec)
Canada H3T 1C5
Phone: 514-345-4931, ext: 6900
Fax: 514-345-4766

jacques.michaud@recherche-ste-justine.qc.ca

 

Not Just Any Mother's Day

I am truly blessed.  I can't believe this is my 21st year to be a mom.  I have had many ups and downs, as many of us all do.  But through it all I am blessed beyond my wildest dreams. As I look back over the last 5 years I have learned the most about myself than at any other time in my life.  I actually thought the biggest test in my life was getting through an abusive 1st marriage. I was so wrong. God had other plans for me. I am also sure the learning curve will continue during this life of mine.
In the last month we have been trying to find the right ADHD medicines for Beckett.  We had him on 5 mg of Focaline for one week.  It turned Beckett into an aggressive, irritated and unsettled little boy, on top of totally eliminating his appetite.  We now have changed it to Adderall XR, but I haven't been able to get his prescription yet for it. I am hoping to begin it next week. 
This week has been an amazing week for me.  I received two emails from doctors who know more about SYNGAP1 than anyone I have found in the world.  I wrote an email to Dr. Gavin Rumbaugh from Scripts Labs in Florida 6 months ago.  I was so glad to hear from him.  He then gave me the name of Jacques L. Michaud, MD.  He is the doctor who developed to test for SYNGAP1.  He is now trying to make an accurate descriptive definition for SYNGAP1.  To my surprise, he emailed me back within about 10 minutes and ask me to have a phone conversation about Beckett.  I am so excited that I have been able to get the attention of a published scientist who is interested in my sons condition.  I am beginning to see doors open and hoping to be a part of something that will bring hope to others and my son.

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

Next Step...I Mean Jump!

It's been a busy last few weeks and looks like the next few will be even busier. It's Rodeo Season for my husband and I.  We volunteer at the Houston Livestock Show and Rodeo to give back to the community here in our city.  It is a lot of work, but it is an escape from our everyday routine. The kids also really enjoy the dressing up and seeing all of the farm animals and fun things they have for them.

The video is sides ways..opppsy!

 

Even in the midst of all the everyday life bustle, we are still chugging along.  We are excited to watch Beckett  making new strides.  We are learning to deal with his temper tantrums by both ignoring them and by placing him in our dimly lit room on the bed, while he cries out the fact he can't have what he wants.  We have been pretty consistent with it and it seems that they have gone from 2 -3 hours down to about 15 - 30 minutes.  His receptive communication seems to be getting better.  His new words are "hot" and "cooooollllddd"...He tends to drag out the vowel sounds in his words.  His vocabulary both verbal and signs have made huge gains since the beginning of school this last fall.  I am also noticing that he is beginning to play a bit more independent with toys, especially trucks. We have watched him looking at the wheels roll back and forth when he plays with his cars.  Since Christmas Beckett has loved his new trampoline.  He has actually learned how to jump really high.  It has really improved his coordination.  I do have to admit, it took him a while to actually climb into it.  We had to force him in and once he realized it was going to be ok, he loved it.  I have already thrown my back out twice jumping in it with him. He laughs so hard he sometimes can't stand in it. His laughs are contagious.  When I watch him I forget that he even has any problems and is just like any other

kid having fun. 

Rock Bottom & Climbing

As I look back during this last year from when I started this blog, I have to say that this last week has been the absolute worst in my life.  I have been fighting back emotions in several areas of my life over the past 6 months.  I will not lie about feeling so low that I really felt like not going on in this world.  As I said in early posts that I had an outside influence that was affecting our family. This unfortunately happens to be my ex husband.  He hates me, my husband and our success so much that he would do anything to hurt us. 

My youngest son I allowed to go live him because I decided to go to mediation instead of going through a arduous court battle, AGAIN! He has taken us to court before and lied about many things and caused us to waste close to $25,000 that was reserved for my older children's college education.  He has successfully turned my 15 year old son against us.  I believe my son being the youngest, has felt like I have forgotten about him while trying to raise my twins.  As most people realize, raising a special needs child does consume an enormous amount of time and money.  Therefore resulting in changes of the dynamic of how things are done within the family.
The frustration level that I feel is almost indescribable and unbearable.  I am very sad that my 15 year old and my 20 year old are having to deal with anger and bitterness that is directed at both myself and their father. My 18 year old keeps things to himself and doesn't like talking about his feelings.  Which also worries me.  I never wanted it to be that way and have no idea how to fix it.  I wish they would have had a happy childhood, but unfortunately they have had to pay the price for adults who can't act like adults.  I have to admit, that I haven't been the best parent, but I have tried my best. I feel I have failed as a parent and in those regards has been hard to accept. 
Trying to juggle not only my other children I have had to juggle my marriage.  You would think that we would get time together because we work together at the same job.  We don't have much alone time or time to focus on our relationship as a couple.  When you don't spend time together building you then tend to fall apart.  The stress of having a special needs child on a marriage was more than I expected.  I believed I was going to lose everything this week and didn't want to live to see what it would be like losing everything again.  I found myself laying face down on the floor crying in my room begging God to just take me away.  I even feel guilty saying it, let alone thinking it.  I heard a very small voice whisper in my ear, "I will carry you through".  I stopped crying and I prayed for the strength to carry on.  It gave me the peace that the future was going to be ok.  I think I had hit "rock bottom" this week and only the Lord above is able to carry me out of the rocks.  I still fight the sadness, but I try to remember the God is in control and He has a plan.  But I honestly have to say...I really don't know what that is.

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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