Friday, December 14, 2012

RESULTS ARE IN!!! SYNGAP-1 gene

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!!