Friday, June 20, 2014

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!

Sunday, June 8, 2014

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