Life Orchestrated

Life amazes me sometimes.  This is so true, that when you think your at the lowest point and there is no getting out, things just seem to go up and fall into place.  My faith makes me believe that life is an orchestra that just plays continuously until God is finished with you. I am hoping that I'm not done being used yet...I have just started..:)  Over the last few weeks I have watched my life take turns that I never thought would happen.  People, places and things have all been set.  I do believe without my faith, diligence, and tenacity that things will not happen as they should. Over the last few weeks I have been given the opportunity to share Beckett's story.  Global Genes and CNN I-Reports have both published his story on the Internet.
http://ireport.cnn.com/docs/DOC-1144791

http://globalgenes.org/mom-spreads-awareness-about-rare-syngap-1-gene-disorder-after-sons-diagnosis/

We have submitted his story to the United States House of Representatives, Energy and Commerce Committee to help pass legislation that will help the rare disease and rare chromosomal disorder community.  I have been asked to share Beckett's story to be published in the official Tribute To Champions 2014 Gala program with Global Genes Project.  The most exciting part of these past few weeks, besides everything else has been the published; is the new SYNGAP research that was done by Dr. Gavin Rumbaugh and his team of scientists at Scripps Labs.

http://www.cell.com/neuron/abstract/S0896-6273(14)00401-2

Our group of SYNGAP parents are also anticipating a new study to be released mid-summer by Dr. Jacques Michaud and Dr. Michael Parker about SYNGAP and epilepsy.

An exciting summer and still more to come.  Our small group of parents are also in the beginning stages of forming a non-profit foundation that will support research, awareness and small medical grants for families and caregivers of SYNGAP patients.  So stay tuned for new and exciting stuff!

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Beckett has just taken off developmentally.  In the last three weeks or so his language has increased and he his trying to repeat every one's words, I mean every word.  That's includes when he heard the word "ass" and repeated it exactly as he heard it.  And this time, it wasn't me saying it.  I do have to admit it was pretty funny stuff.  We had to get serious really fast and tell him "No, no, no!"  So now he shakes his finger at you and says that instead.  He is also asking for help, going to the potty by himself, asking for snacks when he is hungry by pointing.  For words he doesn't know yet he is coming to me taking my hand and takes me to what he wants or needs.

I was amazed the other night as we were putting the twins to bed and he was all tucked in.  I was looking for his chewy tube and couldn't find it.  I was stunned to see that he got out of bed, turned on the light, came back to the bed and found his chewy tube in the sheets.  He then put the chewy tube in his mouth, went back to turn out the light and crawled in bed.  I sat there with my mouth open in awe and I had to pick my jaw up off the floor when I left the bedroom. It came to me that this boy is problem solving...LIKE FOR REAL!!! 
I don't know if the combination of the medications are helping or if it is just him "growing up" a bit.  I might think it is a little of both.  I have always wondered if the Omega-3's he has been on since he was two years old has helped his brain development. The seizures being controlled has helped his cognition, while the Zoloft has decreased his sensory anxiety along with a significant decrease in his OCD tendencies.  I am very happy with his progress and I am hoping it continues as he gets older. I can't help to think that maybe we have stumbled on to something with the Omega 3's, but maybe time will tell.  Maybe I should mark my words and hypothesize that maybe the Omega 3's are protecting the cells in his brain from damage that the seizures cause.  It's a shot in the dark..but that's usually where science starts, in an "educated guess".

One of our many visits at Texas Children's Hospital
He loves Mini Moo!

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!" 

Trying To Hang On To Hope....

Considering all the trails that our family has had to face in the last several months, keeping up with my blog as been hard.  We have had many changes in the last six weeks for Beckett.  He will begin Monday with a new daycare sitter.  We have had to move him from his regular daycare he has been at since he was 3 months old due to the change of some of his class situation, therapy and school schedules.  We were not happy with the new teacher arrangement in his class at his daycare.  They seemed to be too young to be able to deal with the needs that Beckett has.  We were very disappointed that this was not fixed or changed for us, considering we were paying for a full time program when he was only in there part time. I do however have to clarify that most of the workers there were great with him.  They were typically older women and not teenagers or college students caring for him.  We now will have him with a lady who will keep him in her home, but she is also one who has a special needs child herself.  We are nervous somewhat, but praying for the best and hoping that she can deal with his needs.

We have had some regression with his potty training due to the fact that the girls in the daycare were not paying attention to checking on him to go use the potty.  He has a hard time remembering he needs to go and needs some reminders every hour or so.  He has started trying to say a few more words and sounds which is encouraging.  We still are trying to teach him the dynovox, but at home he seems uninterested in using it.  He has mastered several icons for needs and food on it with his speech therapist.  We know he can use it, we just need him to understand using it for his needs. 
Texas Children's Genetic Center still has not called us with the results of his EXNOME DNA Sequencing Test.  I have been patiently waiting for some kind of answer.  We are also trying to get Beckett into see a psychiatrist to have him evaluated for a behavior problem that is causing his melt downs.  We are hoping that they will give him something for his OCD/High Anxiety Behavior.  His fits seem to be getting worse has he gets into the stage of the terrible 2-3's that his little brain is entering, even though he is 4 years old.  We have noticed over the last few months he is more interested in toys and musical instrument's that seem to keep him entertained.  We are hoping the we will get to implement music therapy in his daily routine in the PPCD program at school.  We are seeing slow progress with him..I just still have anxiety over what the future holds.  I pray almost everyday that God would heal my little boy...I have to admit that it has been hard to hold on to hope, but I know there HAS to be a PLAN..

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Potty Training & etc...

I have no idea even where to begin.  Do I start with how we are going with potty training or do I start with the transition time from daycare to the house during the afternoon?  Umm....well these two particular events have been the hardest thing I have ever had to do in my life. I actually thought that teaching middle school was much harder.  Boy, was I totally wrong!!
Potty training with Beckett has been quite difficult.  Getting him to tell us he needs to go is the hardest part. We have a digital voice box that has a button he pushes that his PPCD teacher has recorded the message, "I need to potty".  When we first put it up I think he pushed the thing 200 times.  Of course, this helps us know when he needs to go; if he'd use it the right way. We began to bring him every 30 minutes when we can.  Beckett can control himself for the most part, but its getting him to try and complete all the steps that's hard.  Due to his lack of motor coordination, he has a very hard time pulling his shorts and pull-ups up and down.  He knows to do all the steps, which is the frustrating part for me also.  Since summer has begun Beckett has gotten better about having fewer accidents and letting us know he needs to go. I finally got around to getting a second voice recorder to the daycare.  Within one day he learned to let his teachers know he needed to go potty by pushing the button.  Funny thing is all other 19 children in his class did the same thing. I warned his teachers of the "new novelty".
I know he still has trouble coordinating his motor skills to master all the steps to go potty.  I never really thought about the process of something very simple to the average person as being a really difficult one when you think about it. So far, it's been a week and he has had only one accident.  Hopefully by the end of summer he will be able to let everyone know when he needs to go.