Monday, June 24, 2013

Closing this Chapter

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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

Saturday, June 22, 2013

We're Done

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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.


Monday, June 17, 2013

Titration Week 1

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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 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.


Thursday, June 13, 2013

Why This All Matters

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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.

Did you click that link?  Did you sign it?

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)

Monday, June 10, 2013

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


Sunday, June 9, 2013

The Good and Not-So-Good

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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.

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.  

Sunday, June 2, 2013

Fragile X and Autism Families for STX209

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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:

(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.