Monday, December 17, 2012

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.


Friday, December 14, 2012


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!!

Saturday, December 1, 2012

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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