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!

HEAR MY CRY!!!

Over the last few months I have been trying to find my place.  Asking myself questions of ,"Where do I start?  Who will listen?  Who really cares?"  I am learning that more people do care, but there is so much going on who has time to do much about another person's problems.  My steps have been small, but as I look back on two years of shouting to the sky, I feel like I have been heard.  I am so excited to announce that the group www.GlobalGenes.org has published my son's story.  I have been a volunteer advocate leader for them and trying to help raise awareness of rare diseases and rare genetic conditions. This to help inform the public to to pass legislation that will benefit the Rare Disease community and encourage them to contact our United States Congress.  If you would like to read the published story about my son, please follow the link.
http://globalgenes.org/mom-spreads-awareness-about-rare-syngap-1-gene-disorder-after-sons-diagnosis/

Please contact your US Representatives and ask that the pass the following legislation.

If you would like more information on the pieces of legislation being discussed please follow the links below:

House Bill 460:   http://beta.congress.gov/bill/113th-congress/house-bill/460/

House Bill 1591:  http://www.facebook.com/l.php?u=http%3A%2F%2Fbeta.congress.gov%2Fbill%2F113th-congress%2Fhouse-bill%2F1591%3Fq%3D%257B%2522search%2522%253A%255B%2522H.R.%2B1591%2B%2522%255D%257D&h=dAQEaOjeQ

In the meantime, Beckett has finished his Kindergarten year and is looking forward to a relaxing summer.  We are hoping that he begins his ABA school in July and looking forward to seeing his progress.  Since last summer we have seen vast improvements in his verbal communication and his cognitive level has improved. He is saying his siblings names so that you can understand them and is having a better time expressing his needs verbally.  He can following two word commands and understanding directions more so than he ever has.  We believe that since Beckett's seizures have been controlled his learning has increased at a more rapid rate.  I am super excited to see him grow and develop when he begins Spectrum of Hope. 

https://www.facebook.com/photo.php?v=10202000707371403&l=1997653894636273445

 

Tired...

This is the part of the year is where it really gets hard to get up in the morning.  The same routine for approximately 187 days. Starting with getting up, organizing backpacks, fixing lunches, gathering clothes for school, making breakfast, getting dressed, doing hair, make-up, pouring a cup of coffee to go, grabbing the purse & backpacks then throwing kids in the backseat and go! Whew!  That's a mouth full!  Granted, I do understand that it is probably half the population of working women with children that carry out the same routine, but to add to that the harder days are when I have only had about 4 hours of sleep. This is due to Beckett getting up during the night and trying to get him back to sleep, if he ever does. It's even harder to get up at 5:30AM and do all of the above plus tack on entertaining/teaching a bunch of squirrely 6th graders science. But I have to laugh at myself when I have to top off the day like it started only to come up with an explanation to why they are going to need it in the "real world".  Makes me want to stick pencil in my eye!  LOL!  I am happy to say I am glad I only have 42 days left of school.  It's been a rough year this year.  I sure hope next year is much better and less tiring.

 

I am waiting to find out if Mr. B will be able to attend an ABA program here close to us.  If he does happen to get in we will have to find a way to get him there in the morning since I am working.  I am hoping that an online teaching job comes my way so that things will be a little easier to get him there.  We will be going back at the end of April to find out if his seizure medicine is working like it should.  I am thinking that it possibly is going to have to be changed because of his sleep disturbances and irritability increasing during transition times.  Another item on the list that I am going to have him checked for is a condition called PANDAS.  It is an autoimmune disorder that affects the brain, heart and joints when the body is exposed to the Strep infection antibodies.  We have noticed over the past few months that Beckett literally turns into a different child when he has a Strep infection.  So that is on my list of thing s to talk about when we return to the neurologist. 
I am hoping for some answers and a solution to some of his sleep problems.  Sleep is a good thing...I wish I could have more of it!

So Proud of My Bean!!

It's been a crazy few weeks.  I've been gearing up for our Houston Livestock Show and Rodeo!  I absolutely love rodeo even though it can be really tiring at times, but so worth it!  If you are ever in Houston, Texas for a visit in March, you need to put the rodeo on your bucket list of things to do before you die.  There's not an experience like it. You really have to check it out!  I am what they call a Gate Keeper.  I am the one who welcomes you to the Rodeo and takes your ticket to get in.  It's a blast and I love meeting new people from all over the world.  http://www.rodeohouston.com/

In the mean time, I have been working to collect as much data for Dr. Michaud from other parents of children with SYNGAP.  I am still trying to get in touch with the genetic doctors at Texas Children's Genetics Clinic. I am trying to get them on board with Dr. Michaud and Dr. Parker from the UK to help define SYNGAP and have it identified as an actual diagnosis for the medical DMP.  I am also super excited to have at least 7 of the families in the US that have gotten the information packet from me to send to Dr. Michaud.   I am also excited to hear about the new discoveries that Dr. Michaud and his colleagues are going to be publishing soon.   I will keep everyone posted on the developments as they arise.

Beckett Spelled His Name Out At School

On the other side of things I have been so very proud of my Bean.  Beckett's teacher at school has been helping him to spell out his name in letters.  He also has been trying hard to write his name.  Since he has been on his seizure medication he has really progressed more than I expected.  He is more aware of his surroundings and making more of an effort to communicate his needs with us.  He is learning something new everyday.  He is imitating almost everything he sees.  I am so glad we found out about his seizures.  It has made a world of difference.  Of course we still have the melt downs when he doesn't get what he wants, but I guess that's normal for a child who is at the mental age of three.  We are working on trying to be patient and having to wait for things.  I didn't realize how hard teaching that concept is.  I assume that when he matures a little more he will eventually get it. 

 



 

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