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

It's a God Thing!

It's amazing how when you think your entire world will fall in on you, something happens to catch you right before you hit the ground. This last week has been up and down.  As I had shared last week I was excited that Beckett was able to go to summer camp. Not even 24 hours after posting in my blog my excitement I get that phone call I was hoping I wouldn't get.  They weren't sure they would be able to let him stay.  He was having accidents in his pants and the little girl who was shadowing him wasn't really prepared to change dirty underwear.  I cried all day and night just praying that God would allow something to work out so Chris and I could get a break.  We had gone in to talk to the director and she said to us she really wanted this to work. She told us they were going give it until Friday to decide whether or not he would be able to come back the next week. I figured that Beckett was nervous and had high anxiety that was literally "scaring the poop" out of him.  When we returned on Thursday the director had said she was able to switch the schedule around to allow one of her counselors who was a  "mom" take care of him.  I was so relieved that she did that for Beckett. So far, he has been back this week, still having a couple of accidents but we now have someone who isn't worried about cleaning up a mess.  Come to find out Ms. Dee has eight children of her own.  She said it doesn't bother her at all and she was glad to be able to help.  I was so ecstatic when I picked him up he didn't have one accident today!! I hope the rest of the week at camp goes the way today did.

Besides the good news of Beckett not having an accident today.  The best was yet to come. I got a call from my geneticist this afternoon. He shared with me that he had gotten an email from a researcher at Texas Children's Hospital asking him if he had any families with SYNGAP1. He said to me; "Monica, I had gotten your email and two days later I received an email out of the blue from a researcher here at Texas Children's wanting to know if I had any patients with SYNGAP1.  I was scratching my head and thinking to myself, that's really odd and the two emails were totally unrelated?"  He began to explain to me that they are about to begin a study on SYNGAP1 here in Houston at Texas Children's. They are looking for families wanting to participate that have children diagnosed with SYNGAP1. He ask me if I would have a problem with him giving me Beckett's information. Of course my response was ABSOLUTLEY NOT!! This is great news!!! I am so excited the this has gotten more attention in the scientific world!!! I  am so excited that they want to use Beckett in their study!!! WHOOP!  Before I ended my conversation with Dr. Scott he mentioned again how much of a coincidence it was to get two emails in less than two days totally unrelated about the same thing.  I told him that that's not a coincidence...that's a God thing!! He giggled over the phone and said, "you are probably right, I do believe that God allows things to happen like this."  I told him, "This was an answered prayer!"  He told me, "Yep..I believe in those too!" 

Time for Summer!

We started the summer this last weekend visiting Galveston Island State Park & Beach.  You could say that this was Beckett's first "real" beach trip.  The last time we had brought the twins, they were only 16 months old.  I don't really count that one since they really don't remember it.  He loved the ocean.  He walked right into the water and into the waves.  He would have floated away if his daddy wasn't right there with him.  He was so excited!  I don't think I have ever heard him laugh so hard every time a wave hit him.  He laughed constantly for almost two hours strait.  We had some of the most fun that day and more was on it's way!

Beckett's First "Real" Beach Trip 2013

This week Beckett has begun his first ever summer camp.  I am excited and worried at the same time.  This camp is not geared for special needs children. Mrs. Darlene the director of the camp has made it possible for my son to be able to participate with the kids his age.  I am happy to know that she has taken an interest in making my son apart of her program.  She has made accommodation's for him and to allow him to be with his twin sister for 6 weeks out of the summer. A young teenage student has been appointed a help the lead counselor with Beckett and to follow him in every activity planned, even in swimming.  Of course, my biggest fear is him swimming...he can't!  He has no concept of danger or fear.  I also worry about him wandering off unnoticed.  I know that they are aware of all his habits and won't let that happen.

So today is his second day.  I haven't had a phone call yet to come get him, so I am assuming he is fitting in just fine.  I am so thankful that the FAC director has seen a need to include the children in her program with special needs.  I wish more childcare facilities did a better job of mainstreaming special needs kids with others.  I believe it is not only good for the special needs child, but the child who has no disabilities to serve others who need it.  I am sure his experience this summer will help him continue to progress and develop his language and other skills and also maybe expose others to differences they are not use to. 


 

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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

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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RESULTS ARE IN!!! SYNGAP-1 gene

I am sad and glad at the same time. Today we found out that my son Beckett has been diagnosed with a very rare autosomal dominant disorder called SYNGAP-1 gene. It doesn't even have a name yet. I am hoping to find out more information on it, but there is not much out there in terms of a prognosis.  I don't know whether to cry or breath a sigh of relief.  Texas Children's Genetic Center called this afternoon and told us that Beckett had a very rare genetic disorder that is so new that they even don't know much about it.  They have only just recently identified one more child with the same syndrome in February. We are relieved to find out that it will not affect his twin or his other 1/2 brothers and sister.  Neither Chris or I have the gene defect and the genetic counselor has explained that it was a fluke in nature.  They do not know whether it was caused by the environment or if something just when wrong after fertilization.  Of course, we might not ever know what caused it.   They explained to me that there could be more out there but the test is only a year old and very expensive to run.  Some of the symptoms of this disorder are seizures, schizophrenia, moderate to severe mental retardation, speech delay, and autism type behaviors.  The doctors at Texas Children's have worked us into an appointment on January 7th to see Beckett and talk with us about what they do know and how to move forward with his treatment.  I am now seeking a new direction and feel that I must do something to further the research of how to help he children and families with this disorder. 

I do however, must mention that even though the news I have received today about Beckett, I am grateful that I have him to hold and hug.  Today was a horrible day in our country and I will pray for those who lost loved ones in Connecticut in the school shooting.  My heart is heavy and broken for all those affected.  I realized today that even though I have trails of my own, I am very thankful that I have my children with me today.  I was also reminded that through bad times, God truely will make good for His glory, even if we can't see it now through the hurt.  GOD BLESS THOSE BABIES AND TEACHERS WHO DIED TODAY!! They are in the ARMS OF JESUS NOW!!

Mystro Please!!

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Well, I know it has been a while since I have had a chance to update my blog.  A lot has been happening in my personal life that has interfered with our normal routine.  I am now in a custody dispute with my ex husband over my 2 teenage boys.  It has been a challenge to try and keep on track with Beckett and deal with unplanned events that are happening around us.  Never the less, I must press on and give God the fight over to Him.  I have learned through the last couple of months to truly know what it means to be thankful in my circumstances.  I am allowed to have justified anger, but to know that God will see me through this and that He has a plan, which I learned AGAIN, that it is not always my plans he has for me. ;)  Keeping a smile on my face has been hard, but for the most part I am at peace and I know the truth will be shown for those involved.

Over the past couple of months Beckett has started school again and is now adjusting to a new routine.  He doesn't get a nap this year in the afternoon.  We are feeling the effects of this every evening when we get him home.  He tends to scream and kick until I can get him fed dinner.  We have been giving him a bath right after he eats.  He has been going to bed around 7 every night and sleeps until 6 in the morning.  I am hoping that he adjusts to his new routine soon. 

Besides the new routine adjustment, we have just gotten his new device called the Dynovox Mystro.  This full operational computer is going to be his link to communicating with the world.  I was so happy when we found out that our insurance company paid the full $9,000 for it.  This was an answered prayer that God could only do!!  I am blown away by all the things that he can do with it.  Beckett is catching on slowly, but I am sure that over time he will be able to communicate is basic needs in a few months.  He carries it with him everywhere. It even has his favorite restaurants programed in it with his favorite foods.  His frustration level will be incredibly lowered using this to tell people his needs. 

Beckett telling me he has a "Book"

 

In the meantime, we are still waiting for the results of our 3rd round of genetic testing to return.  We also got an answered prayer that the insurance company paid in full for the $15,000 test.  YES! That is correct..$15,000!! We thought we would be responsible for at least part of it at some point and were amazed again how God works when we just don't think He is going to have it in His plan.  GOD IS SOOOOO GOOD!

Round 3

Got some more huge news last week about my baby boy. Texas Children's Genetic Center called and they have approved him to be a part of a study for rare genetic syndromes!!! He will be taking the Whole Exome Sequencing Test. The best part is..they said insurance will pay 100% of the genetic test!!!!This ones about $6000 buck-a-roos!! So off to Texas Children's to this week for Beckett, Chris and I to give blood. Please pray they find the answer we have been looking for. We are also waiting to here if he will qualify for the Human Genome Rare Diseases Study in Maryland..maybe I'll get to see the East Coast if we get to go.

                                 Riding on his pawpa's tractor at his ranch in Madisonville, Texas

Beckett is making more milestones everyday.  He is almost fully potty trained.  He still forgets if we don't remind him.  But he is in big boy pants all day and a pull up at night.  He stays dry throughout the night!! YEA!! I huge step we have been working on since Christmas.  The daycare has recently moved him into the 3 year old room.  He is trying to make more sounds and is imitating behaviors of his peers.  We are beginning to watch him play more functionally with toys..especially cars.  We are still trucking on.  We are in the process of getting a Dyno V communication device.  Hoping that insurance will pay for it 100%.  The therapist seems to think he will do well learning how to use it.  This will make communication so much easier for him.  God truly answers prayer.  When you begin to give up He reveals Himself when you least expect it.  GOD IS SO GOOD!