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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STX 209 - Our Journey So Far [Update 5]

I haven't done an official update in quite some time.  We have been on open label now since January 18 (a little over two months).  To say we're happy with his progress may be an understatement!  We don't really notice a lot of the behavior changes being around him all the time, but when I look back through videos it's very noticeable so I wanted to share here.

We first started seeing Ayden's speech emerge in September of 2012, he was a little over 5 at the time.   If you watch him here, you can see he's spinning and doing a lot of gaze avoidance.  He also is having a very difficult time "accessing" the right sounds for what he is trying to say.

The next video is about a month later on 10/10/2012.  The same type of social problems with gaze avoidance and such are present.  He's not spinning because I put him on a stool that he does not like to get down from. You can see how difficult it is for him to focus on what was happening.  He is saying more words than he was previously though is still having a difficult time accessing the correct sounds.

These two videos were before we entered the blind portion of the STX 209 trial.  I wanted to share them as the difference in how he is even acting improves.  These two videos were also taken under optimal conditions for Ayden, something I did not do later on.

This next video was taken one month into the blind portion of the trial.  You can see improvements in almost all areas.  He was eating at the time, but you can see his focus is much better than in the last two videos.  You also can see his is looking directly at me when he says most of the words (though not between words much).  More importantly he is actually accessing sound without many issues and even isolating certain sounds.

The next video was taken at the end of the STX 209 blind trial / beginning of the open label portion.  We were actually a week into the open label when this was taken, so he was somewhat improved from how bad he actually got at the end of the blind trial.  He essentially lost all speech and became very dis-regulated  no focus etc.  Notice his eye contact is gone, focus is pretty much not there, and he is having such a difficult time accessing sounds -- he isn't even trying on some.  This was the most heartbreaking video to make, but I wanted to document it as well.

As I said earlier, we are now two months into the open label portion of the trial. Ayden is currently on 20mg of Arbacolfen (STX 209) taken 10mg 2x per day.   At school, they are seeing improvements across the board.  Socially, academically etc.  He has at least doubled where he was at in all areas since he started on STX 209.  He has been able to isolate every letter of the alphabet and is currently working on combining vowels in speech therapy.  His overall vocabulary is somewhere around 50 spoken words; some of which are beginning to be heard spontaneously in small sentences.  He is beginning to try to read words from books as well.   Most importantly he is playing and socializing with his peers.  At school, we've seen a huge decrease in stim behaviors (though at home we're seeing more in some cases).  Just in case it's difficult to trust a mom who of course sees the best in her child, let me end with this before I share one last video.  We are at 40-60% inclusion for Ayden right now in his IEP.  We were informed by his ASD room teacher at parent/teacher conferences that she is pushing for more inclusion next year.   We're looking at upwards of 60-80% of his days spent in a general education setting with his peers next year.  

The final video I want to share is from last evening.  We were doing our normal bath/bed routine and Mr Awesome was playing a game on his phone.  Ayden came in, requested to sit up on the counter next to Daddy and then began talking.  We don't understand [most of] his words here, but the voice inflections and different sounds are certainly patterns of speech.  His little voice is just the sweetest sound in the world.


 

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Speech Video 01/23/2013

Our last speech video was created on December 5.  At that time, we were at 24 words and 9 different isolated sounds - all made with little to no issues.  I encourage you to go back and watch that video before this one to really get a good idea of the changes.  December 5 Speech Video

I took my previous post and started to go through the words he was successful with at the last video when I made this.  The words at that time:  Ayden, Mommy, Daddy, Issac, Emma, sissy, car, cupcake, turtle, turkey, oink, gobble, quack, woof, moo, yeah!, bubble, bus, birds, fish, ball, apple, brother, eagle.  And the sounds:  /b/, /g/, /t/, /p/, /c/, /s/, /a/, /m/, /i/.  We barely made it through half the list and you'll see him slowly lose focus more and more as well as protest.

I didn't count today for an exact number, but we're back to about 5 words.  Maybe 10 with a lot of pressure.  The last video was taken right before we started noticing things getting worse in the double blind portion of the STX 209 trial.  Ayden became considerably worse over the course of the next six weeks while on the maintenance portion and into the titrating down portion of the trial.  His speech slowly regressed along with a lot of other gains.  I wish I would have done this before we started the open-label, because while this is bad it is still better than it was a week ago.  We are 5 days into the open-label where we know we are receiving the medication and are beginning to see a bit of improvement in his focus and speech.  I am hopeful as we get his dosing correct in the open label that we will begin to see these gains return and our next speech video will be much better.

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STX 209 - Update 4

On Friday we will make our final trip to Chicago for the double-blind portion of the STX 209 trial.  In the time since I posted my last update, things went from mildly frustrating to pulling out my hair frustrating.  The whole thing culminated last Friday with me taking time to go into school and observe Ayden to see if we could brainstorm some ideas as to how to deal with everything.  (bear with me while I try to organize what led up to this)

Over the maintenance portion of the trial we slowly saw all the good things we had been seeing with Ayden all but disappear.  We had seen gains in focus, socialization, anxiety, speech, less stim behaviors, and small things like starting to use toys correctly.  When we went to our last appointment and looked back to the differences - we saw drastic decreases in every single area that had made gains.  I want to reiterate that these decreases were seen during the maintenance phase.

I briefly mentioned the aggression issues we started seeing in the maintenance portion of the trial as well. While the issues were minor things such as hitting himself, throwing himself on the ground, or slamming his head into a wall (which sounds worse than it is); every so often we would see a hitting incident occur towards another individual.  We've dealt with hitting before...but it was different.  Ayden used to hit Issac when he was younger.  I think the worst of hit was around 3.5-4 years old where he would actually stop doing an activity to walk over and hit his brother. He would also swat at me on and off, but these incidents were isolated to times where he was already hyper-aroused and I was attempting to help him.  Those types of things involve bear hugs, deep pressure and just generally actions that require me to be right in his personal space.   The thing about those prior instances is they were always toward an immediate family member and we had not seen them for quite some time. I want to give background on this, because while on the maintenance portion we not only saw the emergence of hitting as I described above, but also had an incident at school where he actually hit his para-educator.

So now we are on the next portion of the trial, titrating down from the medication (or placebo).  We started this process almost two weeks ago and since then, behaviorally, Ayden has almost been unbearable.  Just a few days in to the new packs we noticed a decrease in aggression.  While it was less in number though, it was worse in degree when it did happen.  As the first pack progressed, we have seen Ayden not just losing the abilities he achieved over the course of the trial, but also a regression of some behaviors back to things we haven't seen in a year or two.  Re-emergence of stim behaviors and anxiety especially are bad.  Those two things lead to a lot less socialization as well.  As one can imagine, these affects are seen the worst at school.  He's having a difficult time focusing ,so work is harder which is making more anxiety.  He's being made to do things that are difficult which also means more anxiety.  Then frustration is piling on top of that - I imagine because he is unable to do things he could do just weeks ago.  All these things just lead to one very sad, anxious, over-extended little boy.

As I mentioned above, I went in Friday to observe Ayden during school.  I was only there for an hour, but it was much worse than I expected.  He basically spent the entire time staring at moving objects hanging from the ceiling (this was during calendar/weather time).  As he moved into group work, he refused to do things every time it was requested of him.  He would walk around, stare at the ceiling...basically anything to not do what he was told.  When he was forced to by hand over hand...he started clearing materials from the desk and attempting to throw them as well.  I left after about an hour.  I had gone to observe what they were seeing and give some ideas as to how we could help, which I easily had in the time I was there.  It was utterly heartbreaking to watch though.

I was home for about an hour when I received a call from school.  After I left he had hit his para-educator.  Our school district has a very strict policy on hitting.  The child is taken to a time-away room and a timer is set.  After the timer buzzes, the child is then given a puzzle (or other similar activity) to complete to show they are ready to return to the classroom.  When I received the call, he had gone through 4 timers already ending in throwing the timer, throwing the puzzle, throwing himself on the ground...you get the idea.  As I was on the phone with his teacher, he finally complied with the puzzle and was returned to the classroom at which point he cleared the gen ed teachers desk and then attempted to hit another child. (which THANKFULLY was blocked by the para-educator).

After all this, I put in a call to the study coordinator.  I wanted to be sure they were aware what was happening.  I didn't expect him to get worse while going off the medication.  We were not told what to expect during the process, which I can only assume is because they want an accurate portrayal from us and not a skewed one by them saying "you may see this".  I was very glad I did make that call though.  All these things that we are seeing are very typical when kids are taken off the (actual) medication.  Especially kids that have been on too high of a dosage.  (You may remember, we are fairly certain that Ayden was on too high a dose).  It was a relief to hear this was typical, and even moreso to learn that we were probably at the worst of it and should expect the craziness to level out the closer we get to being totally off the medication.

We've had two more days of dosing in since Friday - and have watched Ayden very closely over the weekend.  Both Mr Awesome and I feel his focus and anxiety was better than it was the previous week.  I am very hopeful this will carry over into school today and we won't have a repeat of Friday.

Our next appointment is this coming Friday at which point we will be enrolling in the open label extension.  I want to just end this post by saying that the past few weeks have been difficult, but the small amount of time we saw where we believe Ayden was on a good dosage gives me so much hope for what this will do for him long term.  I do not regret being in this trial even for one second despite what we are going through right now.  It is a short amount of time in the grand scheme of things.   I imagine the next post about STX 209 will be much happier as we will officially and knowingly be on the actual medication.

More to come...

Edit:  I forgot to add this little bit...we've also been seeing some sleep issues since starting the titrating down.  Ayden will wake 1-2 times per night, but does return to sleep himself.  He also fell asleep in school - which is utterly unlike him.  I believe the night wakings were also something I noticed while we were building up to the maintenance dosage as well.  Not terribly important, but good for others who may be considering the trial.

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STX 209 - Update 3

I know this post is crazy overdue...but other things keep requiring my attention this holiday season.  Now that it's almost over and I have a few minutes to breath..(who am I kidding there?  I never have time to breathe!)

My last update was in mid-November, almost six weeks ago.  We have been on the "maintenance" portion of the trial for a while now.  This means we have been on a steady dose of whatever level of drug (or placebo) we were assigned to in the randomization.

Behaviorally..Ayden is doing okay.  It really depends on the day.  I can say without reservation that there have been changes.  His good is much better.  He is more functional and anxiety is very much decreased from what it was when we started.  The flip side of this is his meltdowns - when they do occur - are terrible. We've seen many more instances of throwing himself on the ground, slamming his head into the wall, throwing materials at school, and hitting himself in the head.  We've randomly seen all of these issues come and go with Ayden, but it is every time his anxiety gets bad or he is frustrated that we see them now.  None of it has harmed himself or others but it's very difficult to watch.   I was looking forward to starting to wean him off the drug for this reason, but our appointment was rescheduled due to weather so we have another week still before we start the weaning process.   I personally believe he is on too high of a dose (though we have discussed the possibility he is on too low of a dose as well) so getting into the extension will be interesting.

As far as speech goes, we are progressing.  Since my last update on the trial we have added more words and also sound isolation/imitation.  This is perhaps the most exciting to me of everything we have seen.  Ayden has been in speech therapy forever, but without even attempting to imitate or isolate sounds speech therapy doesn't do much good.  I very much understand it just could be time for this to start happening for him and the fact we are in the trial could be coincidence - but I just don't think it is.   Time will tell, though!

My next update will be during or after the weaning process.  If he has been on the medication this entire time as I think he is, we should notice some significant changes back to old behaviors.  Here's hoping I keep my sanity the next month or two as we transition him off and then back on again for the extension.

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STX209 Trial

Ayden turned five in July, which meant he finally was in the age range to participate in the STX209 trial I've posted about a few times.  At the time, we were unsure about putting him in it and actually had him on minocycline to see if we could see some improvement from that.  With only minor changes happening with the minocycline, we decided to do the pre-screen for STX 209 to see if Ayden even qualified and what all the trial entailed.

Turns out, he did qualify for STX 209.  We decided to go ahead and enroll him in the trial back in August.  Our nearest site is in Chicago, so it took at a little planning.  See, the first three visits are each two weeks apart and then there are two more visits about 4 weeks apart that follow the initial three visits for a total of 5 visits. In fact, the study actually includes 7 visits, but they combine the first and last two into one.  It is a lot of travelling for us.   Each visit is a one day trip to and from Chicago (4 hours each way).  We decided to enroll him anyways after all the amazing things we have heard regarding STX 209.

Well, our initial appointment was set for the first week in September.   A week before our appointment, we were asked to delay a month, pushing the first visit out to the beginning of October.  A few weeks before that appointment we once again were rescheduled but this time for just a week later.  As I'm sure you're guessing already since I haven't mentioned we started yet - just two days before our appointment we once again were asked to change our appointment.  Asked is probably isn't the right word...told we had to is better.  Our first appointment is now scheduled for October 29.  This pushes two of our visits into the holiday season (one of them actually has to be between December 20 and 25 - that's some nice planning) not to mention the stress of driving to Chicago in winter.  I'm incredibly frustrated at this point but what can we do if we want him to participate?

I'm hoping this will all be worth it for us.  If not, at least I know we've helped put others whom the drugs IS working for one person closer to having the drug FDA approved.  In the meantime, look forward to our first visit update *hopefully* around the end of this month.

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Clinical Trials

Yesterday, FRAXA hosted a webinar about some of the current clinical trials for Fragile X.  The webinar covered the two main types of treatments that are in clinical trials right now - GABA-B agonists and mGluR5 antagonists.  It also covered some pretty detailed information about the clinical trials for STX209, AFQ056, and RO4917523.  What was involved, length, qualifications, etc.  Overall very interesting and informative stuff.

I'm not going to go over the information covered in the webinar, but wanted to link the power point presentation here for anyone interested.  I also want to point out that STX209 is also in clinical trials for Autism Spectrum Disorders as well as Fragile X.

These trials are very promising.  I know so many FXS families with their kids enrolled in one or the other that are having fantastic results.  It really bring a lot of hope that we soon will have medications approved that can help our kids out.  These aren't miracle drugs, but even peeling away one small layer of anxiety or problems for our kids can open up an entire new world for them (and us as parents!)

Here is a link to the webinar:  FRAXA Webinar Slides

A big thank you to the presenters and FRAXA for putting this together!!

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