Thursday, February 28, 2013

USC Infant Study

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We happen to be one of the rare families that knows about our infant's Fragile X diagnosis at birth.  With that, brings research opportunities.  We found out about the USC study through our contact at the UNC study.  This study has three visits, two of which are completed at our home and one completed on-site at USC.  The first visit was completed at 9 months, I don't think I even did a post about it as it was right in the middle of Thanksgiving and the Arbaclofen (STX209) blind trial with Ayden.

This visit was much the same as that one.  We flew into Columbia last Friday. It was just Emma and myself going, and she was on my lap for the flight.  We made it with no issues, despite the fact we flew out in the middle of a snow storm and had a connecting flight to catch.  When we arrived in Columbia, we started almost immediately with minor issues. The rental car place did not have a rear-facing toddler seat, and Emma is just not big enough to forward face yet. We ended up finding a rear facing infant seat that fit her weight at least but did not have the latch belt with it.  I'm okay using the belt to strap in car seats, so we just went with that. (a choice I was regretting the next day) I was tired and hungry and really just wanted to get to the hotel before it was too dark out.  I hate driving...and it was raining which is double yuck for me.  It's one of the many reasons Mr Awesome and I make a great team, because he prefers to drive.  I did make it there okay, even with a stop at the store to pick up food for Emma.

Saturday morning, we headed out to the assessments   I know that two different assessments (Vineland and Mullins) are completed as well as other things but I honestly can't even detail those [other things] out.  It's a minor detail, as it is mostly just play for Emma.  We then did an EEG with her, which she was not at all fond of.  It was a super simple morning and everything went without a hitch in regards to the study.  As expected, the entire team was a pleasure to work with.  Little Emma was entirely worn out though.  The poor thing ended up falling asleep almost sitting up and slept about 4 hours that afternoon.  Which, turned out to be a good thing....

As we were leaving the first set of assessments, the base of the infant seat lifted out of the seat belt.  They most certainly are not supposed to do that...  I know I had hooked it in tight, so I tried again and this time couldn't get it to tighten down.  The seat belt just kept pulling loose and not "locking" as they normally do when you tighten a seat in.  I tried with each belt in the back and had the same issue.  Thankfully, we had nothing more to do that afternoon because we had to wait almost 3 hours for the rental company to not just bring us a car seat with latch on it...but instead of switching out the car seat they switched out the vehicle.  They just kept telling me "we don't do that" when I explained I needed a new seat.  I was stuck at the hotel, unable to go to the rental car site and do it myself being alone with Emma and a car seat that didn't hook in.  So, we did the vehicle switch.  Of course there was no SUV available (I was in a Chevy Captiva - very awesome vehicle) so they instead brought out a Dodge Avenger.  At least the seat belts worked...but seriously not a car I ever wanted to drive.

Minus the afternoon, I really had a fantastic time.  I was able to meet my cousin and Aunt for a nice dinner at Olive Garden.  I hadn't seen them in around 20 years, it was so nice to catch up and meet her boys (who also both have Fragile X).  It was the first time I'd been around older kids with FXS, and they really were just so sweet and happy.  I try so hard not to think about where Ayden will be however many years from now because it can be scary for me and just overwhelming.  I know it was so much work that was done to get her boys to that point, but the future seems a little less scary to me now.

I'll write more about the rest of our trip later...

If you have an infant or know someone with an infant with a premutation or full mutation of Fragile X, please consider being part of this study.  It's very difficult to find children that young to participate and the amount that is gained for helping others is so vast.  Even if you just want more information, I can put you in contact with the study and/or give you more in-depth at what we did, arrangements etc.  The same group is also looking for male adolescents (ages 15-22) for a study as well. 


Friday, February 15, 2013

Advocacy Day 2013

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In one of my last posts I talked about how much I really wanted to attend Fragile X Advocacy Day.  Just as I had resigned myself to being unable to attend, a couple things fell into place that have allowed me to go.  I'm so completely excited for this opportunity, I've been struggling to put all this excitement into words since I found out and still can't, but wanted to put an update on here anyhow!

Since we received Ayden's diagnosis, I have been actively sending letters to representatives and senators about Fragile X (with the help of the NFXF).  To be honest, I've never taken part in anything like writing letters or contacting representatives until then.  I've voted, I stay informed...but never more than that.  It's a shame that I haven't been more involved, really.   This past election, I found my voting decisions strongly swayed by the way elected officials dealt voting on all subjects related to Fragile X.  For the first time, I spoke out for someone running for office - one in particular, Debbie Stabenow (who I am very much hoping one of my meetings is with during Advocacy Day!)  This, is my next step and to be honest I am terrified.  I'm not good at meeting or speaking to other people, and I'm not just talking about the people I'll be meeting with on Capitol Hill  There are around 175 other people attending Advocacy Day, many of whom I follow online via Facebook, the Fragile X group, or blogs - but meeting them in person is quite different.  I had a dream the other night that I was laughed at and told I shouldn't have come and to stick to doing things online because people liked me better there.  There was more to the dream, but it certainly did not help my anxiety!

I don't really think that would happen...mostly at least.  There are quite a few people who I look up to an awful lot that are going, and I am going to be honored to meet them.  That's the other part of this really, the part that is for me.  Where I get to finally meet other Fragile X parents.  The ones that have been there for both of our diagnosis and helped with IEPs and behavior issues, cheered me on when I have been down, and have SO MANY ideas to make things better.  The ones who don't make me feel like I'm alone in this, not ever.

I can't wait to fill everyone in on my first Advocacy Day look forward to that sometime after March 7!

Friday, February 1, 2013

4 Color Rebellion Article

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I wrote an article for a gaming website about how we have used the iPad with Ayden for education.  Head on over to 4 color rebellion and check it out!  I love to see exposure to Fragile X in place you wouldn't normally look, and Dave was kind enough to give the NFXF a little plug as well.