Tuesday, July 22, 2014

14th Annual Fragile X Conference - Part 1

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I arrived back on Sunday from what was the most fun filled, emotional, information packed week I've had in quite some time.   I want to share a lot of the information I learned, but putting it into coherent structures is quite difficult so hopefully this makes a bit of sense!

The conference started off with a medications discussion with Drs Randi Hagerman and Liz Berry-Kravis.  Not much of this session was new to me because I follow most of the medication trends/trials/science and we see Dr Berry-Kravis who is very good at keeping us informed.  One thing that was touched on was the need for better outcome measures for clinical trials.  I think any time medications were discussed this seemed to be drilled into people (for good reason!).  I will be doing an entire post dedicated to the STX209 (arbaclofen) trial results and explain a bit more about what is being done to help produce better outcome measures - it is a lot!

The rest of the first day is a bit of a blur to me.  I helped out on a NFXF video project then went right into facilitating a table at the lunch workshops which just left me emotionally drained.  Discussing feelings is never easy for me, but for something as emotional as that first piece of hope you received after your diagnosis it is even more overwhelming.  It is rather easy to bounce back though when surrounded by people who just "get it".

The things I took away from day 1:

--The Fragile X researchers and doctors are working tirelessly for our families.  They will leave no stone unturned to find a viable therapeutic medication and see it available to all families living with Fragile X Syndrome.
--Never underestimate the power of one-ness of this community.  Even when you feel broken and bared, there is another who has been there or is walking with you.  Just knowing and feeling that surrounding you is the best feeling ever.

I want to share a piece of something a fellow conference goer wrote.  It is perfectly written and fully encompasses the feeling I had while at the conference:

When we come to this conference, we all step out of our lives. Lives where Fragile X is a diagnosis, an abnormality that sets us apart from the norm, shoving us into a contra reality and a position of minority in our communities and even our homes in some cases. Even as scientist and professionals, at home we are facing things that no-one else in our respective fields is dealing with. Yet at this conference, our Fragile X Family, our kin, our kind, our community amass in such numbers that we become the norm. For 5 glorious days we are what's expected; we are the center of the universe. Here is a place and a time where the social norm is to speak too loudly, or too quietly or not at all. Where body language is everything -flapping hands, rocking bodies, ataxia tremors, irregular gates and all. Here no-one thinks twice as a child melts down, or an adult interrupts or says something inappropriately. No-one judges a young lady who breaks into tears when overwhelmed speaking about an emotional topic. In this place and time 1+1 = 3 because no-one gets math. We greet someone enthusiastically in the morning and shy away from the same person in the afternoon because the situation is different. We rule the dance floor, the pool, the elevators, the TV's and any mechanical/ electrical equipment that satisfies our sensory itch. At this conference smiles of acceptance, heads bobbing with understanding, patience, hugs, humor, laughter, love and charm are doled out abundantly and often. Eye contact is not. And this.. this is the norm for 5 glorious days.