Thursday, May 28, 2015

FIRST EVER..COMBINED INFORMATION PAPER ON SYNGAP1

I never dreamed that today would come. For the first time in my life I had a dream and it came into reality.  I never thought I had it in me to see anything this "BIG" through because the fear of failure.  Today, I proved to myself that if I just keep going and continue to try and never give up, that good things will start to happen.  Just yesterday I was saying how I wanted to quit and run away. But I chose to stay and continue on through all the feelings of frustration.

My Baby Boy before he started walking...
I thought about my son when he was learning to walk. Pushing a walker and being forced to take every step, because if he didn't he would have never learned to walk.  I thought of how hard that must have been.  How hard it was for him to put one foot in front of the other. Having no motor control and working hand over hand with him to "feel" his legs move.  He never gave up and in the end and he walked!  That meant I can never give up.  I have to keep going no matter how hard things get. No matter how many tears I cry, no matter how mad I get, I just can't stop.  It's my family, it's my children and my SYNGAP family that keep me going.

To think that an email I sent 3 years ago to a researcher I thought would never be heard, was heard.  It started a domino effect.  To think if I never sent that email where would we be now?  I know for sure that I would never be where I am now if I let fear prevent me from reaching out to find help and to find someone that would listen. 

Today was a great day for SYNGAP awareness.  Dr. Jacques Michaud and Dr. Gavin Rumbaugh combined efforts and created a collective summary on SYNGAP1 mutations.  NORD (National Organization for Rare Disease) has published our paper in their database.  This is the first time SYNGAP1 has been published as a collective summary.  This is just the beginning for us as a foundation.  This puts SYNGAP in the hands of people trying to find answers and hope. 

I have to be honest, when I saw it pop on the website, I cried like a baby.  I felt an overwhelming weight off my shoulders.  It was a feeling of relief knowing that when people go searching they have a chance at finding an answer to what they are looking for.  It's a hope for them to know that they're people out there trying to help.  That makes me feel good to know that someone will find help.  I have learned that if "it" wasn't there for you, then be "it" for someone else.  I hope that I can do that for those who need "it".  Since this is just the beginning, I am so excited to see what more we can do together.  The future is bright and I believe we can be the light for others who are searching to get out of the dark. 

Check out our paper and share!  http://rarediseases.org/rare-diseases/syngap1-related-nsid/