My Special Boy: New FB Group for SYNGAP

My Special Boy: 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...https://www.facebook.com/groups/SYNGAP1CONNECT/

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

Bruno Mars - When I Was Your Man - Haleigh Harris Cover

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. 

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!

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.