STX 209 - An (almost final) Update

I've often heard fragile x described as having the sound of a vacuum in your head.  Consider going through life daily with that sound.  Attempting to speak.  To walk into large rooms full of people.  Imagine how difficult it would be and how easily you could become frustrated.  Imagine then that there was something you could do to shut that noise off.  That is how I look at arbaclofen - as an off switch for that constant noise in Ayden's head.  Now we have to turn that switch back on.  Devastated does not even begin to describe the emotions running through me.  Terrified.  Worried,  Overwhelmed.  Sadness.  And tears...lots of tears.

"We regret to inform you that Study 209FX303 [An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of STX209 (arbaclofen) in subjects with Fragile X Syndrome] is being terminated immediately.  The closure of the study is due to resource limitations at Seaside Theraputics, Inc., and is not related to any known safety issues in patients dosed with STX209."

You have seen our journey here.  From barely speaking, struggling socially, anxiety issues, and lack of self awareness to a little boy who was making friends, playing with those friends, playing with toys correctly, jumping into new situations with ease, going into loud places, laughing, talking.  TALKING.   What a difference six months and a little strawberry pill can make.

We were told the open label would be available until FDA approval (or lack thereof).  We were told 4-6 months notice if they were to ever stop the open label.  Things don't always go the way we expect though, and as of May 31 given just two weeks of notice, we have to begin the heartbreaking process of weaning Ayden from arbaclofen.

I took the night last night to sleep and hopefully feel better today.  I don't.  It's not fair.  The fact that this comes down to funding is just too much.   I'm hoping beyond anything else that we don't see regression.  That somehow this drug has made lasting connections that will continue.  That the drug only supplemented and helped what was already happening with Ayden developmentally.  I don't want to lose him into himself.  I just can't.  I won't.  We WILL find something.  We will do whatever we can to help him.  We always have and will continue to do so.  

We have other options for him.  We do know he needs something to help him with anxiety and focus.  We were at that point when we started the STX209 trial.  It was a good fit for us, we didn't have to wean off anything to start the trial because he wasn't on anything.   We knew this could happen.  It doesn't make this easier.

For now, I need to purge these raw, negative emotions.  Then, then I will look to tomorrow.

“You do not need to know precisely what is happening, or exactly where it is all going. What you need is to recognize the possibilities and challenges offered by the present moment, and to embrace them with courage, faith and hope.”  - Thomas Merton


Some other parent's blogs that were involved in the 209 trial are sharing their thoughts as well.  You may click on each person to read their thoughts.  I'll update as I see more.

Holly
Melissa
Kristin
Rachelle
Bonnie
Kristie

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UNC Infant Study

So, the second part of our trip down south.  You can read about the beginning of our trip in USC Infant Study post.

After we finished in Columbia, we got in the car and headed north.  Our final destination was UNC, but we stopped in Charlotte to visit with some friends of mine. These ladies are part of a small group of women that met when we were all pregnant back in 2006/2007.  I'd never actually met them before, but it was just like catching up with old friends.  It was unfortunate that our little 5 year olds couldn't all be there as well, but so wonderful to finally meet both of them in person.  Even so, I had a wonderful time eating oreos, drinking margarita punch, and just talking. It's hard to think we can't just make plans and go out for a girls night sometime, not just with these two but all the women in our group!  Hopefully when we return next year for Emma's 24th month visit we'll be able to get together again but with the kids.

We left Charlotte and headed into Durham/Chapel Hill before dark on Sunday.  It was neat to be driving into Chapel Hill and start recognizing the area from when we were there in August.  East Lansing has a special place with me and is wonderful to live, but if we ever had to leave this would certainly be a city I wouldn't living in.  The atmosphere and people are much like home and part of why I fell in love with East Lansing --friendly, smiling, overall just happy, and comforting.  Plus the area is beautiful!

We settled into the hotel just fine, and just as in August had amazing service.  Emma didn't want to sleep with any light or noise so I spent the evening in the bathroom on my laptop.  She slept at least, but it wasn't very comfortable!  On Monday morning we headed to our first stop of the day.  I keep in touch with one of the people on the team on Facebook and she was the person doing the evaluations.  It was awesome to see her again!  The evaluations did not go as easily as they did in Columbia.  I think just all the travel was wearing on Emma finally and she was very ready to be done.  We headed out of the evaluations directly to the MRI.  Thankfully she was so sleepy she went right down and slept through most of the MRI. We ended up not finishing completely this time, but they got through enough for the study.

I've posted before about this study, but to read a little more on some of the results they are seeing, you can see the latest news on Delayed Gaze Shifting an Early Marker for Autism.

Our flight wasn't supposed to leave until 5:45pm the next day.  With the help of the group at UNC though we did end up changing to an earlier flight.  I was SO thankful we had too, because a nice storm of ice/snow was getting pretty bad as we came into town - 4 hours earlier than expected.  Our flight from Detroit wouldn't have made it until much after 11pm if we would have stayed with our original flight (which I know because that is where my luggage ended up)  so it definitely worked out.

Also..since I am such a procrastinator, I have the results back from her testing.  The behavioral assessment that was completed at UNC (Mullins) came back with all test scores in the normal range.  Even though her receptive language appears low with a monthly value, it is still in the normal range.

Fine Motor: 15 Months
Gross Motor: 13 Months
Visual Reception: 12 Months
Receptive Language: 11 Months
Expressive Language: 12 Months

The adaptive behavior assessment was done at USC (Vineland) and also came back with all scores in the normal range.  This refers to basically how she meets her daily needs.  Her standard scores were from 100-110 in all areas (communication, daily living, socialization, and motor skills).  "Normal" or "Adequate" score is between 85-115.

Overall, very good results.  She is continuing to develop normally and I continue to question each time she falls a little outside a "normal" developmental milestone.  It's a good combination!

And because I don't have a great picture from our time away...here's a nice video to show Emma's new favorite thing -- animal noises.

If you have an infant or know someone with an infant with a premutation or full mutation of Fragile X OR has an older sibling with Autism, 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.  

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USC Infant Study

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. 

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Fragile X Infant Study / NC Trip

In late August, we packed up the family and headed down to North Carolina - UNC specifically - for Emma to participate in the first part of a longitudinal research study for infants with Fragile X. (More on the travelling in a bit!)   She will have visits at 6 months, 12 months, and 24 months where she will undergo an MRI and developmental assessment.  The MRI takes place while sleeping, and the developmental assessment is very straightforward - especially for those of us that have gone through them for older siblings before!  Emma did fantastic with the MRI which was the only portion I was worried about at all.  Those machines are loud, and sleeping through them seemed near impossible; however, she made it through the entire MRI only waking up one time and going back to sleep fairly quickly.

We haven't received all the information back from the developmental assessment, but the summary looks very good.  Emma is where she needs to be in all areas developmentally.  At 6 months old, this is a huge relief.  I don't remember seeing delays with Ayden until around 7-8 months, so hopefully the next few months will keep her on track as well.  I still have a couple areas that are a concern to me even with her testing coming out fine.  I am praying those areas continue to progress though and the difference I see are just due to different kids developing differently.

As for the study, you can learn more about it here if you are interested.  If you are a Fragile X carrier and either expecting or have an infant under 6 months with Fragile X you really should look into this study.

Now, back to the travelling.  When I say we packed up the family I mean we packed them up, drove to Detroit, and then flew to North Carolina.  On a plane.  To say we were a bit nervous about flying with a 5 year old, 3 year old, and 6 month old might be an understatement.  Especially with Ayden.  We did our best to explain what would happen, trying not to explain too far in advance, and then hoped for the best.  As usual, my children never cease to amaze me.  After getting up early, riding almost two hours to the airport, riding in a shuttle, fighting crowds, and going through security -- ALL of the kids were meltdown-free through the entire flight.  Ayden was most excited when we took off.   Both him and Issac were just staring out the window.  After that, it was just like a car ride to them.  We landed with just as much ease, hauled them through another airport and into the rental van then finally to the hotel.  By this time it was far past lunch time.  We grabbed a bite to eat and then took a nap before heading to dinner out and Emma's MRI.   Our first day of travel, which is exhausting to me again just typing it - had us returning to our hotel around 11pm where all of us crashed. But we were meltdown free the entire day!

The next two days were not nearly as good - but for as much as we pushed the kids I couldn't really ask for much more than they gave.  Ayden especially did such an amazing job trying to be good and not whine.  I watched him teeter on the edge of meltdown a few times and bring himself back.  We did have a fantastic time, but it was infinitely exhausting.

The highlights of the trip were definitely meeting the wonderful team at UNC working on the study (I won't name their names here...but there are only two of them!) and how amazing everyone was that we encountered while travelling.  I can't even count the number of times we were told how polite and well-behaved our kids were.  One couple even told us we made travelling with three kids look easy (HA!).  It wasn't just the positive comments either - friendly faces, smiling, being polite.  We honestly never had one person shoot us a dirty look or look at us like we were inconviencing them.

All in all, it was a very successful trip - for a very good cause.

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