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!!

9 comments:

  1. It took us 8 years for an answer for our daughter. Ashleigh is now 12. Well, 12 1/2 as Ash says. Ash has a disease called Spastic Paraparesis. It has many names, but this is the one that our neurologist calls it. It is hereditary. We have a Foundation to look for answers. I think one day soon so will your family. Have faith.

    Things like this makes me very grateful for what I have, but very sad for the parents, grandparents, etc for those that have lost.

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    1. Thank you so much for your encouragement. I am thinking I should start a foundation and support group myself to help other families. I might have a new direction to go in now, a new purpose:) May God bless you and your family also! We are truly blessed!

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  3. Thank you so much for sharing:) I will delete it..and send you an email.

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  4. Hi my name is Melanie Mum to Saskia who is our 8 year old daughter. Saskia was diagnosed by genetics on Friday 15th March as having Syngap1, we are awaiting our follow up appointment witht he clinic. Found your blog & just wanted to catch up with you. So re-assuring to learn we are not on our own out there. I noticed that you went back for treatment/update in January & was wondering how that went. Is there any chance of us being able to converse by email?

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    1. Hi,

      I wasn't sure if you got my email. but I wanted to touch base with you and if you ever wanted to talk I am available:)

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    2. Hi Melanie...it's Monica..I just wanted to share with you that I had a chance to talk with a doctor who is an expert in SYNGAP1 and is needing families who are wanting to share their child's history to complete his definition of the SYNGAP1 gene. I have his contact information if you would liek to speak with him. My email is mlweldon5@yahoo.com.

      thanks,

      Monica

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  6. We just found out last Friday from Baylor that our son, Remi (age 7 1/2 years) has a SYNGAP1 mutation. I am feverishly searching the web for anyone else with this condition and any information on it. I've been searching for 6 years for this answer and I finally have it and I don't think I want it anymore. I had so much hope (and discouragement at times) just thinking it was autism. Now I know it is a genetic mutation, and it is permanent, I fear losing my hope for my son. I would love to correspond with you if that is ok. I also would have no problem sharing our information with the doctor you mentioned who is an expert and looking for families with this condition. We need to know more.

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