Friday, February 15, 2013

Making a Difference

So, I have to admit that living in Utah and trying to get things moving forward in the world of Fragile X is really tough and sometimes very overwhelming. Our Association hasn't really had a strong presence here yet, therefore, it seems often that what I do is in vain.

Once in a while something happens that gives me the push to continue to move forward.

Sometimes something happens that makes me motivated enough to take action.

But this week, was a whole other story!

I was contacted by a psychiatric genetics researcher who is doing doing a family-based study on the genetics of  Fragile X Syndrome using whole genome sequencing. Which may seem like no big deal (or greek-one of the two, but the opportunity is RIGHT HERE IN UTAH!!!! Right here!!!

I don't have to travel across states to help in furthering research being done for Fragile X Syndrome! It's right here in my own back yard.

Oh, and it just gets better! This wonderful man even offered to do a seminar for our Association... for free! What! He is so excited about this project that he is putting his heart and soul into it. There was even mention while I was talking to him on the phone about eventually having a place here in Utah that offers help for Families affected by Fragile X... do I sense a Fragile X Clinic possibility for Utah in the future? I hope so. It was mentioned briefly while we were talking to him and I got so excited!

He even knew about our Parade of Pumpkins and was excited about that too!

Notice all the exclamation points in this post!!! Look at them all!!! This is complete and total excitement!

They are coming to start some of the research with my family next week. They are even coming right to my home! Awesome! My kids will do so much better if they don't have to go to a hospital or doctors office. I am also really excited to show them what a family who deals with Fragile X Syndrome every day is like.

I really hope that I am able to be a part in making a difference here in Utah. It may be years down the road but I am excited that it is even a possibility and I am excited to start on the path now!

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