14th Annual Fragile X Conference - Part 1

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.

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One Year Later - Reflections of STX209

It was a year ago today that we made our first trip to the Fragile X clinic at Rush for the beginning of the arbaclofen trial.  I have such mixed emotions today.  I can't forget the amount of hope I had for those little pills.  I remember how I stared at Ayden each day watching for anything different.  Then I slowly saw my baby emerge from the fog of anxiety he was living in.  One year ago my baby was barely saying fifteen words.  They were never spontaneous.

Today, he greeted me by name.  Told me what cereal he wanted for breakfast.  Asked for a different shirt.  Told me he didn't want to wear his hat to school.  (which at this moment I realize he actually managed to pull off!).  He also gave me a hug and then told me bye before running to get on the bus - where of course he greeted his bus driver.

I of course wonder now if the arbaclofen jump started his language or if it was just coincidence that we started around the same time he had a developmental leap.  My gut tells me it was a little of both, but in the long run it doesn't really matter.  We have been off arbaclofen since June 9.  In late July we started on sertraline and while it isn't as good as arbaclofen it is an acceptable alternative.  He still has a lot of anxiety and it doesn't really help his sensory issues, but that is okay.  For now, it's the best we have.  Had we not seen what arbaclofen could do for him already, I'm sure I would be totally happy with this.  But I have.  So it is hard to be happy with a 'second best' and why I feel like my emotions are so jumbled.  I want it back for him.  It all just feels so unfair still.  Even with his progress and how amazing he is doing - I wonder how much better it would be.

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Post STX209 Update

I've sat down to write this update so many times and then walked away, unable to put words down.  We are living day to day and taking each hurdle as it comes - looking at the big picture of changes is really difficult for me still.  All my time and energy have been thrown into readjusting to what has become our new normal.

We began weaning off arbaclofen and started adding racemic baclofen on June 9.  We have been off arbaclofen since June 23 and on our current dose of baclofen since June 16.  Current medication is 10mg of baclofen 3x per day.

We have seen good and bad with this change.  The best part is we have not seen much regression of language.  Ayden has actually added more words to his vocabulary in the past six weeks.  The regression is seen in how often and when he is speaking.  It's very difficult for him to initiate conversations or even simple requests now.  He has a difficult time walking into another room to say hi to someone even.  He's still able to isolate most of his sounds, when we can get him to sit still at least.

Which brings me to one of the biggest changes....focus.  Sitting still.  He quite literally cannot stop moving himself or something he is manipulating.  Sitting down to read and/or work on writing has become near impossible.  We were around 15-20 minutes right at the beginning of the summer and have now regressed to around 3-5 minutes.  It has made things very challeninging for me.  If I'm not occupying his time with productive things every single minute of the day he is stimming in some way or another.

Stimming has alos gotten much worse.  Most of Ayden's day consists of him attempting to stim in some fashion.  Spinning toys is the most prevalent of those, which is not surprising as he did it so much before.  I find it interesting with the stimming that it is actually worse than it was pre-arbaclofen.   I think this is mostly due to the fact that Ayden is older now and he's learning how to deal with these urges and anxiety he hasn't had to in months.  It's a lot to cope with, and I see this as his way of handling it.

Onto the anxiety...oh the anxiety.   It's prevalent in everything he does, everything we do.  It's taking a lot more prompting and a lot less doing 'things'.  Probably the most heartbreaking for me was to see how anxious he was when we went to the splash pad last weekend.  We made sure to go at a time that wasn't too busy, and that did seem to help.  He just couldn't run through it like he previously did.  He played with some of the things on the edges, but for the most part hung back and just watched the other kids playing.  Seeing him wanting to go do something he loves and just not being able to get his body to cooperate rips my heart in two.

We have watched fairly carefully over the past month or two and thankfully have seen a leveling out of these behaviors.  That is, they are not getting better or worse.  With this all of what we have been seeing, we decided to stop the baclofen. We don't believe it is helping him and if it is - the amount is much too small.  We've been working closely with our clinic doctor and decided to try treating his anxiety and focus for now.  Our goal is to have his medication stabilized for when school begins.  Our hope is by focusing on those two issues, we will see improvements in other areas as well.

On Monday we began the process of weaning off racemic baclofen.  The past few days were pretty horrible - it was much as I expected.  Night waking, higher anxiety, more meltdowns, totaly disregulation... the poor kid is a mess.  We will more than likely add his new medication starting next Monday when we drop his baclofen dose to 1x per day.  This is going to put us on track for around 1 month on his new medication before school begins.

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Closing this Chapter

We sent it all back today.  Six boxes, three still unused.  Two dosing diarys and a two page explanation of what we saw over the past two weeks including behavior charts.

Fed Ex came and picked up the package.  Ayden told me no as I handed the box he had watched me pack up to the delivery person.  He then had a full blown meltdown after he left.  All I could do was hold him and cry with him.  Once he recovered he planted himself at the front window and has been staring out it since then.

We may be closing the chapter on this trial, but will we keep moving forward .  One step at a time, one day at a time.

The story below is one that Ayden received as a gift when he finished pre-school, I find it rather fitting.

I knew you could!  And you knew it, too --
That you'd come out on top after all you've been through.
And from here you'll go farther and see brand-new sights.
You'll face brand-new hills that rise to new heights.

I wish I could show you the stops that you'll visit,
But that isn't my choice to make for you, is it?
Instead, I can tell you some lessons and tales
That I've learned and relearned in my time on the rails.

First of all, you must find your own track,
So you can start right away and not be held back.
But which track is yours? Well that just depends
On which way it's going and where it might end.

Different tracks wind around,
over, under, and through,
So pick out the one
that works best for you.
Though the trackyou start out on
will feel like "the one,"
You might take a few more before you are done.
An now, with your eyes on your new destination,
Start up your wheels and roll out of the station.

On your new trip you'll make plenty of stops,
In deep river valleys and on high moutaintops.
Some will surprise you and some will be planned,
And you'll roll through each one saying, "I think I can!"

You'll go through tunnels, surrounded by dark.
An you'll wish for a light or even a spark.
You might get scared or a little bit sad,
Wondering if maybe your track has gone bad.

So here's some advice to help ease your doubt:
The track you took in must also go out.
So steady yourself and just keep on going --
Before you know it, some light will be showing.
And then you'll be out, heading to a new place.
You'll be ready for the next tunnel you face.

Sometimes you'll look up and see planes in the sky,
And you'll think to yourself, "I wish I could fly."
The cars on the roads will seem quick and free --
You'll feel stuck on your track and think "I wish that was me"

But the plane might wish he could get out of the air,
Saying, "I wish I could travel like that train down there."
The cars will watch as you speed right along.
And they'll look at each other,
"Look how fast and how strong!"
Don't worry about not being a car or plane,
Just enjoy the trip you'll take as a train.

Don't be afraid to too your own horn,
If you need to be heard or there are people to warn.
Or if being yourself makes you so proud,
That you want to share it and sing it out loud.

You'll follow your track
through twists and through bends,
And stop at new stops and pick up new friends.
They'll all come aboard with smiles and greetings.
You'll have such great times
with the people you're meeting.

On the days when you're sad and feel you can't go.
Speak up and ask a friend for a tow.
That's what friends do, so don't be afraid.
You'd do the same if your friend needed aid.

You might stop at stops that you never have toured,
And look for new friends, but they won't come aboard.
So you'll have to head out with a creak and a groan,
Setting out once again on your track, all alone.

Try to remember the world is so wide,
Full of all kinds of people with their own trains to ride.
Just stay true to yourself as you travel your track,
With no second guessing and no looking back.

Once you're on the right track, you'll probably say,
"This one is mine -- I'm here to stay."
Try to enjoy the track that you choose --
Stop now and then to take in the views.

If you rush forward as a general rule,
Before you arrive, you could run out of fuel.
Don't overwork, but save up some strength.
That way, everyday, you can travel great lengths.

You'll need all that strength on the days when you're stuck,
Or tired, or sad, or just out of luck.
When your belief in yourself doesn't feel quite so pure.
And your "I think I can" doesn't sound quite so sure.

That's when ot push and to strive and to strain.
To show the world you're not a giving up train.
And you're wise if you know that doing your best
Means that sometimes you should just slow down and rest.

Speeding through your whole trip will bring only sorrow.
So slow down today and be happy tomorrow.

There's more about life that you'll learn as you go,
Because figuring things out on your own helps you grow.
Just trust in yourself, and you'll climb up every hill.
Say "I think I can!" and you know what?
You will!
-- I Knew You Could, Written by Craig Dorfman

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We're Done

Today I gave Ayden his last dose of STX209.

I've held my head high though all this.  I've done everything I can, extended every favor I had.  And today, it feels like none of it matters.

We will weather this storm.

We will find something elese that works.

I will continue to fight.

But today, today I cry.  I cry for the hope that we had with this medication.  I cry for the look on Ayden's face as he tells me he doesn't want the new medication.  I cry because I can't explain why so he could understand.  I cry because he deserves more.

I cry because no matter how hard I have tried.... for now, it wasn't enough.

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Titration Week 1

Day 9

I don't want to write about this.

I don't want to think about it.

Yet I feel I need to.

Full disclosure though:  It's not as bad as I thought it would be.

It isn't good though either.

Ayden was on 20mg of the study drug, taken in two doses of 10mg each.  On June 9 we began titration and he dropped to 10mg of the study drug taken in 5mg doses twice a day.  At that time, we also added in 20mg of baclofen taken in 10mg doses twice per day.

Day 1 was really bad.  We had our first major meltdown in the morning around one hour post-dosing.   Followed by bathroom accidents, frustration, more meltdowns, and a very sleepy boy.  It was not anything unexpected, but pretty hard to take in. (Jump over to http://stx209stories.com/stx209/ayden-abouelseoud-holt-mi-update-1/ to read the full story)

Day 2 followed much of the same pattern.  He woke up extremely hyper, but more of a borderline sensory overload.  It was his last full day of school, and school noted this was the case as well.  He had a small meltdown in the morning, around one hour post dosing just as the previous day, but by the afternoon was a mess.  This is a small portion of the email from his teacher:

The refusals/meltdowns then started after special.  They lasted the rest of the day.  He went from crying, to throwing the materials, to hitting.  He just seemed overwhelmed.  He was very oral, chewing on everything.  I did have to set a timer and have him sit at the table a couple of times because he continued to hit/push and really needed a break.

I could share each day, but it is much of the same.  We're seeing a pattern of a small, 20-40 minute morning meltdown that happen around one hour post dosing.  We are then seeing a meltdown in the afternoon, also around an hour post-dosing that lasts on average 2-3 hours.  Lots of stim behaviors returning and anxiety.  He's fighting it, but it is there.  This is from day 3, and just a short clip of our entire afternoon.  It's difficult to see him like this.



The most heartbreaking thing for me to watch is honestly how much more difficult it is for him to communicate right now.  He wants to - I can SEE him trying.  He just physically cannot do it.  And then he becomes frustrated, so frustrated in fact that he can't even revert to showing me instead of using his words.  I don't think his language is disappearing even though we are hearing it less.

The good thing is that his humor that has emerged over the past few months is not going away.  He's still trying to eat our brains and scare us with yelling "BOO".  I don't think it is as often, but he's filling a lot more of his time with stimming, and escaping to a quiet place (his iPad, movies, and the pool).

As I said, it isn't as bad as I thought.  I think the baclofen is making a difference.  I've been in contact with Ayden's doctor and we've made some slight changes already so I'm hoping those will help even more.  I think she has a good idea for next steps for us as well.   We're just in a waiting period now.   Saturday is our last day of arbaclofen.  A week from today I will be mailing back 3.5 boxes of medication.  We'll have a few weeks after that to see where he levels out at (it took about 3 weeks on arbaclofen from dosing changes) and then we'll go from there.

Look for more updates as we progress.

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Why This All Matters

There are those moments in life where it feels like a band aid has been ripped away and an open wound left exposed.  Those moments make me stop and wonder how I couldn't have realized what was under that band aid in the first place.  The ending of the STX209 trial was exactly like that for me in many ways.

I work tirelessly to be sure that my children have the best lives they can.  For Ayden, that work is just...more.  Our goal for him has always been to give him the happiest, loving, most independant life he is capable of.  I don't know what that entails, but I do know that I will move mountains to see that it happens.  STX209 was a step in that direction.  It helped him to function better with the high amounts of anxiety he has every day.  I believe that lessening his anxiety was what was primarily responsible for almost every other development we saw.  It just made it so much easier for him.  It should be fairly clear why it being ripped away in the fashion it was has been such an emotional roller coaster.  It left me feeling vulnerable and exposed - I highly dislike both of these feelings.  The only logical step was to take action, and thankfully a group from my X-family felt the same way - thus was born STX209 Stories.

In the midst of this, I did something I now realize should have been done sooner.  I looked into the FDA approval process for medications.  As with most government programs, it's a mess to navigate.  There aren't really any clear processes that aren't just broad blanket statements meant for basic understanding.  In the process of all this I came to this conclusion.

The FDA process is not setup to accomodate a drug that would target a core cause of a spectrum disorder.

Let me explain this more.  A spectrum disorder is a term most people are familiar with but maybe don't understand exactly.  Let's take autism for example.  Say you have twin boys and both are diagnosed with autism.  Each boy can be affected very differently.

 Boy A may be non-verbal, have a difficult time playing with toys correctly, and crave sensory input in the form of being hung upside down or spinning in circles.  

Boy B may have no problems speaking, but is unable to function socially and shies away from eye contact, peers, and any loving gestures.  Boy B also has stim behaviors like flapping and humming and can also been found rocking in a dark place quite often.

These boys both have autism, yet it is presented very differently.  Thus why it is called a "spectrum" disorder.      You may have mild issues on that spectrum, or more severe such as you usually see displayed in the entertainment industry.

Let us take the same twins from above ...

When introduced to a drug like STX209, these boys will both react differently.  You aren't attempting to help their specific symptoms of autism, you are helping the core of it to correct symptoms.  As such, Boy A may stop craving sensory input and begin speaking more while Boy B may stop using stim behaviors as much and begin to interact socially.

Is this medication then helping the twins?  Absolutely.  Anyone that interacts with them can see it certainly is helping them.  However, if they were enrolled in the drug trial  for STX209 that just failed on it's primary endpoint it would not show this.  The primary endpoint the FDA looks for in drug trials says that ONE thing will be improved and that one thing will determine the success or failure of the trial.   Other secondary endpoints may show the improvements that the twins are experiencing showing up in the data, but because that primary endpoint does not it is considered a failed trial.

THIS scenario that I just played out is why Roche pulled their funding from STX209.  They believe now that their own formula will be more successful in meeting a primary endpoint for FDA approval.  I disagree.  Their formula (now in Phase II clinical trials) is built on the same science and research as STX209.  It is also a NEW drug meaning long term use and affects are not known.  STX209 is farther in trials, shown to be working, and becaues it is a reformulated version of an already FDA approved drug we do know the long term affects.  Baclofen has been around since the 1920s I beleive.

And this is why I believe this group of other parents and myself are doing something important.  I believe all other medications that uses this same science will eventually hit the EXACT SAME roadblocks as STX209.    I also believe with the right backing we can get the FDA to approve a medication like this - it will be groundbreaking when it happens - but it will be a long road. A long road made much much longer by choosing to push a drug that isn't as far along in the process already as STX209.

So I'm asking.  I'm begging.  SIGN THIS LETTER.

http://stx209stories.com/an-open-letter-regarding-stx209-to-dr-severin-schwan-roche-pharmaceuticals/

Did you click that link?  Did you sign it?

http://stx209stories.com/an-open-letter-regarding-stx209-to-dr-severin-schwan-roche-pharmaceuticals/

What?  You still haven't signed it?  Look what you did.....



Sign the letter.  Please.  Be a part of the change for Ayden, Emmalina, and every other individual living with fragile x syndrome or autism as well as those many, many more who have yet to be diagnosed.

Here's that link again (in case you missed it)

http://stx209stories.com/an-open-letter-regarding-stx209-to-dr-severin-schwan-roche-pharmaceuticals/

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For almost two weeks now I have been part of a group of women helping to share stories of others that have benefited from STX209 as Ayden has.  This group of amazing, dedicated women has worked tirelessly to share each of these stories.  Stories of how their lives were changed, how their child's life was made so much easier.   We have shared to help bring these stories of hope to the eyes and ears of those who can help us the best.   We have asked, begged, and pleaded for you to do the same.  Together we have reached 37,000 people.

We haven't been doing this for profit, or fun, we have been doing it to arrive here.  Today.  To a point where we can ask each and every one of them for their help.

Please let all of these families, and especially Roche know that you support STX209.  That it IS providing a real difference in patients unlike Luca Santerelli at Roche stated in a recent interview with the New York Times.

Please stand with us. With Ayden. Know that we (together) are making a better future for him, for Emma, and for any other child affected by Fragile X or Autism.   Read the letter in the link below, sign it, then share it far and wide.  I challenge each and every person to share this with at least FIVE friends today.  TOGETHER is the only way we can accomplish change.

Thank you.

An Open Letter Regarding STX209 to Dr. Severin Schwan, Roche Pharmaceuticals

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The Good and Not-So-Good

I have tons to share, but today just want to do a brief update.  We just returned home from a wedding that all three of the kids were in (for their aunt) and I didn't get to post a couple things I want to be sure get some attention.

Friday, something big happened.  REALLY BIG.

New York Times BIG.

http://www.nytimes.com/2013/06/07/business/an-experimental-drugs-bitter-end.html?pagewanted=all&_r=1&

I was interviewed a few weeks ago by a reporter for the New York Times about the end of the arbaclofen (STX209) trial.  The article has a few of my quotes in it along with a couple other fragile x parents.  I bought two copies.  I'm elated  that fragile x syndrome made an appearance on the front of the business page of the NYT.  E-L-A-T-E-D.

Then today, something big in it's own right happened.

Big, but not unexpected.

Big, but not good.

Titration began today.  Our last day with arbaclofen will be June 23.

I'm sure you'll have much to read about over the next two weeks, because I certainly will have much to say.   Normally I hold the worst back from here, because it is difficult to write.   It somehow seems more real to me in ink.  It needs to be documented this time, though.  I want others to see how this drug is helping but more importantly how taking it away is hurting.  

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Fragile X and Autism Families for STX209

Been working on something....

I've been working with an amazing group of women, other fragile x parents.  We're hoping it will be big.  We need it to be big.

You can help by reading our stories on Facebook.  Liking them.  SHARING them.  Each person that shares  one of our children's stories radiates those stories to their entire group of friends.  Who in turn share.  Which makes our prescence much bigger.  So please, won't you help?

Visit this facebook page:  http://goo.gl/RAUGj

(Did you click that link?  What are you waiting for? ....)

(No, really, click it.)

.......

.......

.......

That wasn't difficult, was it?  See all those adorable faces?  Remember them as you continue on.

Like us.

Read the "about" section to see exactly what we're all about.

Read the links in our media section and see the coverage of how this drug is helping.

Read our stories.  Children, families, changed forever.

Then share with your friends, family, and whomever else you can.

PLEASE help us.  We need to make an impact.  For Ayden and for the many other children affected by this.  This sets us back YEARS in getting a theraputic intervention for fragile x syndrome AND autism.

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Morning Musings

I was asked a question the other day that made me really think..  "Do you think the development we are seeing in Ayden is a result of arbaclofen or due to it just being time for him to have developmental leap?"  My answer to this is a little of both.  I think we started intervention at a time that was ideal for Ayden.  The combination of proper therapy and teaching both at school and at home with the medication at a time when Ayden was beginning to show progress all contributes to the large jump we've seen.  Given that, I'm very hopeful we do not see much regression as we begin to wean.  (still no set date yet).

I'm overcome by the differences from last time we spent a weekend at my parent's house when it was warm.  Ayden has been running around in the [wet] grass playing with my parents dog.  Last evening he was actually playing with his brother - they were running around outside pretending to be in Mario Kart. He wasn't just following Issac, he was participating and having a wonderful time. I am enjoying these moments, praying they are here for good.

Just as I was sitting down to write this, Ayden asked me to watch a movie and cuddle up with his blanket.  I was more than happy to allow it, but was more than surprised to have him ask for their dog to sit with him.  He then proceeded to call Brody and try to get him to sit on the couch next to him, even moving to Brody's favorite spot.  Their dog is more than amazing with Ayden, and I was able to get this picture quickly.  For one who hasn't seen the trials we faced with Ayden being around dogs, this won't mean as much - but for those that have I do hope it warms your heart as much as it did mine this morning.

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The Saga Continues

We are currently in limbo phase with the STX 209 trial.  We know it has ended, but haven't yet received either a kit to wean or a call from the clinic on how to do so.   Not that I'm worried about either of these things.   We have heard and were told when we were notified the trial has been terminated that May 31 would be the last day we could begin to wean from the medication, although we have enough to last through August.   We have a few big things happening in the next few weeks which is when we are supposed to wean, the biggest of these being my sister-in-law's wedding.  The one Ayden is in.  I don't know if it will be allowed but I am going to BEG for us to be given eight more days.   That would give us enough time to get through the wedding, but not school.  School for us ends on June 12.

I have no allusions about how the weaning is going to go.  It was difficult in the blind portion.  (Though, technically we still don't know if he was on it - all evidence supports that he was).  I really would like to avoid any situations that are triggers during that time until we get a little more settled.  We will be in need of many thoughts and prayers during this time, not just for Ayden but for those around him.  I'm hoping that the baclofen will at least help with weaning, not make it so difficult. The best thing we could hope for is that it works about the same as the arbaclofen does.

Through all this, I've been reading a lot about clinical trials and the FDA approval process.  Another FX mom piqued my interest with a few comments so I decided to look more into it.  It's all very interesting.  There is a very unique challenge being faced by the pharmaceutical companies pushing forward with Autism and Fragile X medications.  Both are spectrum disorders with each individual displaying a range of symptoms.  I think we will find then that different therapeutic interventions tend to work differently as well.  I also believe this is the same reason we are seeing the varying results in the studies for STX 209.   This medication is treating the underlying cause and thus the reaction and measurable changes will differ from person to person - a more personalized therapy treatment as opposed to this drug does this one thing.  Essentially, the FDA approval is not setup to handle this type of medication.  They require a primary endpoint set and to be met for a trial to succeed.  Even if all the sub points succeed (as in the autism trial for 209) the study itself will fail as it did not meet the primary endpoint.  So while we are seeing results in individuals taking the medication being backed up by tried and true tests like Vineland Adaptive Behavior and we know this is working - the FDA approval process essentially doesn't accommodate treatments that have specific benefits for certain patients. 

I do know that this whole experience has been eye opening.  I'm glad I took the time to learn more about the FDA approval process.  I'm definitely glad we took part in this trial, it truly is groundbreaking - even if arbaclofen never sees approval, we will have been part of a huge learning process working towards getting treatments for Fragile X Syndrome.   With everything we did to try to keep this trial alive (which I won't go into now), it was also good to see our fragile x champions in congress also stepping up and doing what they could to help.  Congressman Greg Harper, Congressman Eliot Engel, Senator Stabenow, and Senator Isakson.  I think the past few months have opened my eyes from saying one voice can make a difference in Washington to SEEING my voice make a difference.  Seeing our politicians use their constituents voices as their own.  It's completely refreshing.

I'll keep updating as we continue on this journey....

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1st Grade IEP!

I'm sincerely blown away that we will have a first grader soon.  Seems like just yesterday we were bringing Ayden home from the hospital!!  We had our annual IEP yesterday, and this kid continues to blow me away.        I won't bore you with the details, but just a few highlights.

1)  Ayden will have increased time in general education (inclusion) next year.  He will essentially have only about one hour per day of 1:1 teacher time in the ASD room.  He will be in normal inclusion for everything his peers do with para support.  His speech and occupational therapy will be 1/2 pull out and 1/2 pull in where the therapists are in the gen ed room with him.  We also found out his teacher for next year.

2)  Ayden will be taking all grade-level assessments with his peers next year with slight modifications as he cannot write or speak.  While this was not written into his IEP for kindergarten, the school decided to do it anyway. We have an understanding with this team that at all possible times we want Ayden to be treated the same as typical peers - so this was one thing they added over the course of the year.

3) I posted on facebook how this was my fourth IEP but the first one I had not stressed or worried about.  I wholeheartedly credit this to his team.  They have been amazing about follow-through, communication, and pushing Ayden all the time.  Each person is invested in him as an individual and not just "one of many" of their students.  I believe our successes we've seen this year are partially due to them, partially to us, partially to Ayden, and partially to the addition of arbaclofen (stx 209) in October.   I can't look at this past year and not give credit to each of those things as they all played an equally important role.  I need to point all that out before I come to my final point...

4)  With all the success and development we've seen this year, plus the addition of normal kindergarten assessments we can truly get a picture of where Ayden is at.  We received the scores for all his assessments at the IEP.  They were...amazing.  In all areas of testing Ayden scored at or above what his typical peers do. Outside the fact he cannot write - Ayden will be entering first grade on par with his peers academically.

What a beautiful highlight to end our year on.

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After-thoughts

It's been a few days now since the 'termination heard round the fx world', and while the unknown of where Ayden will stand once we start weaning him from arbaclofen is still haunting me I at least feel like I have a path, a purpose in all this.

We still have not received our exact date to start weaning.  I know we will hear soon, and am hoping we are able to push that date out to at the very earliest after my sister in laws wedding but hopefully we can push it to when school lets out.  You may remember our titration in the blind portion of the study...[ Do I really have to do this again?!  ]  It was, unpleasant to say the least.  

I have no expectations that this extension will be saved before we have to wean from arbaclofen.  Myself and many, many others in the fragile x community are doing everything we can to try not to let that happen, but realistically I'm preparing  for not seeing our miracle.  You can rest assured that regardless, I will not give up hope or stop working tirelessly writing letters, contacting the media, or raising awareness ANYWHERE else.  We may have to say goodbye to this drug for a short time, but whatever it takes to get it on the market and/or back into our hands is what I will do.

We briefly spoke with our study coordinator and have decided that when we do begin weaning we will start on racemic baclofen as well.  This drug is already FDA approved and been on the market for quite some time.  It contains both arbaclofen and esbaclofen (so, essentially a less potent arbaclofen then what Ayden is currently on) and we are hoping that this will still work for Ayden, at least a little bit.   Some of the families I know who have had arbaclofen working for them have not had any success with baclofen.  I guess we will see.   The plan is to start the baclofen during titration to hopefully minimize the affects of weaning.  After that...well, we'll go from there.  We have a couple paths we can try, although none are as promising for us as arbaclofen was.  I've researched each of them, but we won't begin to make that decision until we see how or if the baclofen works.

Again, on a more personal note.  I'm still utterly devastated over this.  I really want to believe that whatever happens is for a reason.  (as cliche as that sounds)  I'm just having a difficult time.   It's hard to watch Ayden being just so chatty and funny and to think that part of him may be shut off.   Every fiber of my being is hoping and praying that these changes will be lasting, I'm just so so so afraid they won't be, that we will see regression.  That he will stop calling my name when he needs me, or pretending to be a zombie saying "BRRRAAIIINS" and then eat my brains and go "NOMNOMNOMNOMNOM".  That he will stop enjoying coloring or playing Mario Kart.  Even today, he started saying something new ("Oh, no!") and said "no, mommy!" when he didn't want me to do something.  These small moments that show his sense of humor or how much he loves us are times I hold so close to my heart.  It aches to think I may not see them as much, or at all.

Thank you so much to our family and friends for the love and support you have shown us this week.  It's still not easy for me to talk about this in person, and I appreciate the quick texts or notes to let me know we are not alone in this.  You've done your part as much as we're doing ours here on the front lines, and it IS appreciated.  We WILL make it through this, our family is strong and we've been through much more trying times.  We will find something that works for Ayden, even if it does come with heartache along the way.  Above all, Ayden is a strong, resilient little boy and HE will continue to rise above every expectation we have for him as he always has done (even before arbaclofen).

Please be sure to check out "An Open Letter to the FX Community" from the NFXF and pay close attention to the FAQ section.  The NFXF has put together an amazing informational page to make sure factual, accurate information is available to families.  

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BE The Change

So much love and support has been pouring in all day from family, friends, even people I don't know.  While this is circulating on Facebook, I want to get a copy here as well.  I don't know what the future holds for Arbaclofen (STX 209), but I know that when this community, my X-Family, comes together we are a force to be reckoned with.  I know we have done all we can for the many that are currently benefiting from this drug, and hopefully the many more that will.

So...what can you do?

1)  Make some NOISE!  Now is not the time to sit by quietly.  NOW is the time for action.

FACEBOOK users:  SHARE SHARE SHARE.  Repost the following blogs:

Holly: http://itswhoiam-fx.blogspot.com/2013/05/3-12-years-when-drug-trial-ends.html
Melissa: http://www.basicallyfx.com/fragile-x-news/today-we-start-again/
Bonnie:  http://www.fragilexfiles.com/2013/05/the-shocking-end-of-drug-trial.html
Kristin:  http://kristin-thecarvers.blogspot.com/2013/05/the-end-of-stx209-for-usand-now.html?spref=fb
Cortney:  http://fxsadayatatime.blogspot.com/2013/05/stx-209-almost-final-update.html

TWITTER users:  Tweet, tweet, and re-tweet.  Use this message and/or the blog links above.

#WishfulVoting wish Congress was funding #fragileX research so effective meds are available and funding doesn't run out before the FDA approval

2)  Contact your local media.  Call your TV, newspaper, and radio.  Have contacts in other media?  Utilize them.  Call in favors. Pull strings.  Make it happen.  Big or small - each piece matters.

3)  SIGN and SHARE the petition:  https://www.change.org/petitions/pharmaceutical-companies-sponsor-arbaclofen-stx-209-for-chidren-with-autism-and-fragile-x

4)  Contact your congressmen.

You can find your representative here:  http://www.house.gov/representatives/find/
You can find your senator(s) here:  http://www.senate.gov/general/contact_information/senators_cfm.cfm

You can click HERE to find the sample letter I used. (many thanks to Melissa for the template!)

5)  DONATE.  Yes, I'm going to shamelessly plug our fundraiser here because let's be honest - every single penny counts.  The National Fragile X Foundation and Fragile X Association of Michigan were key in getting me to Washington DC this year to advocate for this EXACT thing..funding for research.  They will be key in other families returning or attending next year as well and we want to give back.    Mr Awesome and I are hosting an awareness day event/fundraiser in July - and have put the donation site active.  You'll see a link on the side of this blog, but can also donate by going here:  http://www.firstgiving.com/fundraiser/adatp/abouelseoud

6) Please just keep being amazing.  Your support means so much more than you could imagine.  We few, we family of FX parents are always strong together..but we are even stronger with our extended family, friends and AWESOME network of support.  THANK YOU.  From the very bottom of our hearts.  The outpouring of love today has been nothing short of inspiring.


Finally... Thank you to Holly for putting this list together and Melissa for the letter template she posted earlier today as well.  Your hearts are breaking with the rest of ours and still you both find time to be advocates.  We are one voice, but of you are so often are the megaphone for this community.

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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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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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Brief Updates

An update on the kids, STX 209, Fragile X Advocacy Day, and Fragile X Awareness Day.  Lots of short blurbs to close out the first month of 2013!

We have quite a crazy month approaching as we head into February.  I'm not sure how much time I'll have to update here - but certainly feel free to follow along on Facebook, Twitter, and Instagram.  I wanted to post a few small updates about a few things before we got into the craziness....

Ayden:  We are now in the STX 209 open label extension.  We have another trip to Chicago in February, then one in April, and then we will be on every three month visits.  We've upped his dosage one time since we started so he is currently on 10mg (5mg two times per day).  We are seeing many good changes on this dosage and opted to stick this dosage out for now to see how Ayden is doing.  The change happened very quickly when we upped his dosage (within a couple days) and we are still seeing improvements after a week on this dose.  We will have to decide whether to try to up his dosage and try to get a little better result, but want to leave him on this current dose until we stop seeing improvements.   We are still assuming (even moreso now) that he was on a high dosage in the blind portion of the trial, the top dose he could have had was 10mg three times per day.  If we go up from where we are at, the next step is 10mg twice per day.  Lots to consider, but for now we're just watching.   In related news, Ayden made his very first two-word [spoken] sentence yesterday.  I'm just amazed at the difference this is making for him.

Issac:  The one who normally gets left off the blog...is really turning into a boy rather quickly.  He's developed quite an attitude recently doing the full body sigh when we tell him something he doesn't want to hear and bursting into full-fledged tears when he doesn't get his own way.  He's also picked up asking "why" to everything in addition to "what".  Of course those are the things that make me want to pull my hair out, but he also has the best sense of humor and a giggle that can't help but make you smile.  His favorite thing to do lately is play video games - Mario, Sonic, and Skylanders.

Emma:  Baby girl's first birthday is about a week.  I'm not quite sure how it came so quickly...but wow!  We'll have her birthday, then her party, and near the end of the month head to South Carolina for a research study then to North Carolina for the second part of another research study.  I'm very excited to work with both teams at USC and UNC again, not so much looking forward to traveling/flying/driving by myself but it will work out. In case you're tallying at this point, all these trips also mean I'll be physically in five different states in over the course of a week period and more if you count flying over them.  YIKES.

The other thing I want to touch on briefly is Fragile X Advocacy Day.  Advocacy Day is sponsored by the National Fragile X Foundation.  It is basically a really big group of parents, grandparents, siblings, and self-advocates that go to Washington DC to advocate for Fragile X funding and other things related to Fragile X.  This is the first time I have really wanted and felt I needed to do something even close to this, but probably will not be able to attend.  Financially, the cheapest we could do it would run between $600-$800.  That number includes flight, hotel, food, and something to wear (stay at home mom clothes just don't cut it when you're meeting senators!).  I've been watching flights since October of last year and trying to decrease that cost but it just isn't happening.   There are a few scholarships available that I'm waiting to hear back on, but I expect at this point it isn't going to work.  I don't talk about money on this blog a lot, I feel it's very personal to each family.. I'm going to make a small exception now though.  We are very thrifty with how we live to make it possible for me to stay home with our kids.  We cut corners, make sacrifices, do whatever we can and it is totally worth it.  It also means that we cannot pull an amount that high out of our pocket.  Especially after cutting into our budget for all the trips to Chicago we've been making for Ayden.  I'm very grateful that we are able to make it work, at times like this though it is so hard!   Whatever the case, I will be doing what I can from home and I hope when I post again closer to the date that each and every reader will take a few minutes to write their legislators with me.  If I can't be there, my voice and hopefully each and every voice of my readers will be heard.  So, stay tuned.  :)

Fragile X Awareness Day is less than 6 months away, and I have PLANS this year.  Plans..fun, secret plans.  I can't WAIT to share them.  Hopefully I'll have something I can share in the next month or two so others can make plans with me.  

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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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