Tuesday, October 29, 2013

One Year Later - Reflections of STX209

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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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Wednesday, September 18, 2013

When do you make that call?

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"Do you think we should call early intervention?"

I'm asked this question a great deal and I'm very happy to discuss it with anyone.  One of the biggest reasons for me starting this blog was to help other parents.  To give other families help and hope - things I didn't have when we first began our journey.

See, as a parent I've been in your shoes.  I've been left wondering why my child isn't doing things others his age are doing.  I've posed the question to his pediatrician and (like many of you) were told "Don't worry, all children develop a little differently.  He'll catch up.  It's normal"

I can see you shaking your head and agreeing with me right now.  You've definitely heard some form of this answer.  This is the answer that puts your fears at ease, at least most of them.  If you are looking for assurance, this is the answer you want to hear from me - but it is also the one I will never utter to another parent.  Llike you I've wanted that assurance that my child was "okay".  I wanted to feel better.  I wanted my fear to be wrong.  I craved reassurance that my gut was wrong.  It was easier for me to not know for sure because there was still a chance it would be okay.  I was told over and over again that it would be, and it helped for a bit.  I want you to go back and read that paragraph again though.  Notice each reason is something that makes you feel better as a parent.  I want this.  Easier for me.

The harsh reality of this is that not all children "catch up".  That each day you are sitting delaying making a call  because of how it makes you feel is another day your child is missing out on help they may need.  Maybe they will catch up, but maybe they are in the small group of children that don't.  The call is free, the evaluation is free, the services are free.  Over and over research has shown that early intervention leads to better outcomes.  There is quite literally nothing to lose by calling and finding out.  Knowledge is power, friends.

I know someone is reading this now and saying "No, you are wrong.".  You aren't ready to face the reality of knowing for sure.  I know, I've been you.  I've raised both of my boys wondering at each and every milestone whether or not they were typically developing.  I lived in fear at each milestone.  I distanced myself from other parents with children the same age and when I did end up around them I studied them looking for things they were doing better to assure myself again.  Then, when Emmalina came along we chose to do it the easy way.  She was enrolled in early intervention at just six weeks old.  I had assurance at each step of the way exactly where she was developmentally.  Not just a 15 minute well baby visit, but with developmental specialists who could answer my questions, dispell my fears, and give me things to work on should any of those milestones fall short.  I knew that she would be getting help right as she needed it.   It gave me the freedom to enjoy it a little more and stress much less.  I look back now and wish I could have done it this way with the boys.  While I try not to dwell on this, the question will always be there for me:  "How much different would it have been if I had made that call earlier for Ayden?"

So if you are a parent reading this who is asking that question, please don't wait.  If you are asking it then something is triggering that thought.  Trust your instincts, face your fears, and dare to be wrong.

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Monday, July 22, 2013

Fragile X Awareness Day 2013

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I've been living with Fragile X my entire life, but only been aware of it for about half of that time.  Even with 16 years of knowledge, I've only been intimately aware of exactly what Fragile X is since March 6, 2011.

Some studies indicate a prevalence of as low as 1 in 150 women are carriers of Fragile X.  It can go undetected for so long, until the day arrives that your young child finally receives an answer for their developmental delays.  Then you wonder how.  And you trace it through your family - grandparents, aunts, uncles, parents, cousins, second cousins... the blow is devastating. The guilt, the grief, the depression, wondering about your child's future...  You deal with newness of this diagnosis you've never heard of and at the same time are burdened with telling your family that they may be affected as well.  Maybe it is a pregnant sister, maybe a father who is struggling with Parkinson's type symptoms, a nephew with autism, a cousin with fertility issues, or a brother about to wed.   These things leave scars, the ones that don't heal or get better but just scab over only to have the wound reopened again when you least expect it.

We raise awareness for all of you today - the undected, yet unknown carriers.   My father, my sisters, my grandmother, my uncles, cousins, my cousin's children - those who are already living with this diagnosis.  For you, for your loved ones, and certainly for my babies.




We'd be honored if you would take the time to share this post with your family and friends today.  Please help us educate just one more person about Fragile X Syndrome this awareness day.


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Friday, July 19, 2013

A Day at the Park Fundraiser: The Scoop

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You probably heard about our fundraiser happening this Sunday... named "A Day at the Park", it is the first Fragile X Awareness fundraiser event in mid-Michigan.

For those coming to this blog for the first time...  Mr Awesome and I have three children - our oldest son Ayden has a dual diagnosis of Fragile X Syndrome and Autism, while our youngest daughter Emmalina also has Fragile X Syndrome.  Our middle son, Issac is not affected by Fragile X.

Fragile X Syndrome (FXS) is the the most common genetic cause of autism and autsim spectrum disorders (ASD) as well as the most common cause of inherited intellectual impairment.  The syndrome itself is a genetic disorder caused by a mutation on the X chromosome.  When the FMR1 gene of the X chromosome becomes fully mutate, Fragile X Syndrome results.  Much like autism, fragile x syndrome is a spectrum disorder.  Language delays, cognitive and intellectual disabilities, as well as a variety of behaviorial and physical characteristics are some of the symptoms of FXS.  Each affected person can range from mild to severely affected in these areas with boys usually being more affected than girls.  You can learn more information by browsing through this blog or visiting the National Fragile X Foundation website, fragilex.org

Now that you know a little about Fragile X....onto the event!

When:   July 21, 2013 at 2:00 PM
Where:  Valhalla Park, Holt MI

Valhalla Park is located in Holt, just a few minutes south of the south Lansing Meijer.  From Meijer, follow Cedar St south until you come to Aurelius Rd, go through the intersection and then turn left onto Keller Rd (just past the CVS pharmacy) and follow that until you come to the park.

The park is one of our favorites to visit in this area.  During the event, there is much to do in the park itself....

During the summer months, a beach and swimming are the focal points of the park.  Next to this area are bathrooms and changing rooms.  Adjacent to the beach is a large, semi-wooded, picnic area and a new playground that was finished in 2009 .  Other warm weather facilities include three softball diamonds, a nature trail, and fishing areas on both the lake and the pond.   A large group picnic pavilion is also available on a rental basis.

In addition to all the features of the park, we will have the following events.  Each event has a small associated cost and all proceeds will go towards Fragile X Syndrome (this IS a fundraiser after all!)

Motorcycle Rides courtesy of Ride and Sing with Sonic Boom:  Rides will be $10 for children 8 and older. Younger children will be allowed to have a shorter, slower ride for $5 on a case-by-case basis dependant on how well they sit still and follow directions. You can read the full information packet here: http://goo.gl/Nr7yk

PLEASE NOTE: Everyone MUST wear a helmet, long pants, full shoes (no flip flops, sandals, etc) and kids must wear either a jacket or something with long sleeves. Safety first! There is a bathroom/changing area at the park to change into appropriate clothing.

Each rider will also need to sign a waiver which you can view/read ahead of time: http://goo.gl/MrjMJ
Refreshments:  We will have refreshments available at the park as well available for $1 each.  If you purchased a t-shirt you will recevied a free drink and snack ticket for each t-shirt purchased.

Art Auction:  Ryan Lee has graciously donated an additional art piece that we are auctioning off on eBay with all proceeds going to the event as well.  You can view the auction HERE.

You can view more of Ryan's work on his blog or facebook page.

Thirty-One Gifts Fundraiser:  You have from now until July 21 (day of the event) to order.  At the close of the order one random order will receive the hostess credit from the party as well.  To view a full selection of products, details and product options, view the catalog on-line at http://www.mythirtyone.com/hbrand

To shop directly for the fundraiser, go to the website above and click on the parties link then select "A Day at the Park: Fragile X Fundraiser Event".

Monetary Donation:  You can make a monetary donation the day of the event as well as online.  All donations are tax deductible.  To make an online donation, follow this link:  http://www.firstgiving.com/fundraiser/adatp

Raffle:  Raffle tickets are $2 per ticket and can be purchased the day of the event.  The raffle itself will take place at 3:00 PM under the main pavilion in the park.  You must be present or have someone there who can choose/pick up the item for you to win.  If your ticket is drawn you will have the chance to choose the item you would like.  The more tickets your purchase, the higher chance you have of your ticket being chosen sooner and you being able to select the item you want most!

Here are the raffle items we have available, you can view more information about each item by going to the facebook gallery located HERE.




All proceeds from the event will benefit the Fragile X Association of Michigan and the National Fragile X Foundation. 


FXAM is a parent-led LINKS support group of the National Fragile X Foundation and a 501(c)3 non-profit. Tax ID #56-2450171
http://www.fxam.org/

The National Fragile X Foundation is a 501(c)(3) non-profit. Tax ID #84-0960471
http://www.fragilex.org/




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Thursday, July 18, 2013

Post STX209 Update

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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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Tuesday, July 2, 2013

National Fragile X Awareness Month

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July marks the beginning of National Fragile X Awareness Month.  Each year on my blog I've attempted to do something to raise awareness during the month on this blog.  This year, I've realized that I haven't come up with anything special and part of that is because I've been raising awareness a lot the past few months from Advocacy Day and writing letters to members of congress to helping found the STX209stories website.  It has been a good few months for raising awareness about Fragile X Syndrome!

In addition to all this, we are hosting the first mid-Michigan Fragile X Fundraiser right here in Holt this month!    I was able to secure a corproate sponsor through the help of a friend of ours as well as put together the event.  It isn't going to be huge, but we certainly are raising some money and definitely some awareness for Fragile X!  Checkout our event page here:  A Day At The Park

So..to kick off Fragile X Awareness Month and our fundraiser event month - here is a preview of the back of the t-shirts!  The t-shirts themselves will be kelly green.

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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
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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.

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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 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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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.

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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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


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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.

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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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:  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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Sunday, May 26, 2013

Morning Musings

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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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Thursday, May 23, 2013

The Saga Continues

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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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Tuesday, May 21, 2013

1st Grade IEP!

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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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Saturday, May 18, 2013

After-thoughts

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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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Thursday, May 16, 2013

BE The Change

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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

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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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Wednesday, May 1, 2013

A Day at the Park: A Fragile X Awareness Day Event & Fundraiser

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I'm very excited to announce the first Mid-Michigan Fragile X Awareness Day Event:  A Day at the Park! Please mark your calendars for SUNDAY, JULY 21, 2013 at VALHALLA PARK in HOLT, MI.

A Day at the Park is going to be an awareness and fundraising event.  We plan on spreading the word about Fragile X around the community through a variety of events in the park that day - just in time for National Fragile X Awareness Day on July 22.  The park itself has a beach for swimming as well as fishing areas on the lake and pond, a nature trail, softball diamonds, and playground (both for older kids and toddlers).  It is also semi-wooded and has a beautiful picnic area.

There will be no cost to join us, but we will be selling FX Awareness Day T-Shirts ahead of time that will include a FX green t-shirt (designed by Mr Awesome) as well as one raffle ticket and refreshments/snacks for those who wear their t-shirt that day.   We will have multiple ways to donate during the event including a bake sale, raffle, and more that we are still finalizing details on.  We also have Ride and Sing with SonicBOOM joining us as well offering motorcycle rides for Fragile X!!   I do not have more details than this on anything right now that I can share, but I should hopefully have that information as well as how to purchase t-shirts available by the end of this month, so stay tuned in!

All proceeds from the event will go to Fragile X - either the Fragile X Association of Michigan and/or the National Fragile X Foundation (I'm still looking into the specifics).

In the meantime, if you have something you would like to donate to the bake sale or raffle, please contact me via email, facebook, or phone.  There are multiple ways to contact me at the top of this blog too.

Hope to see you there!!
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Thursday, April 11, 2013

I Wish I was in Italy*

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I feel like Fragile X has peeled off my rose colored glasses on the world.  I long for the innocence I once had  where I believed all children developed normally.  You don't think about it much when you have children, really.  Kids just learn, they are naturally curious and beautiful little sponges that soak up every little thing they hear and see.  They want to learn.  Crave that input for their tiny little minds.

I wish I could just sit back and enjoy it again.  I watch Emma play and wonder when she doesn't touch a certain toy if it is because she doesn't like it or because of the texture.  I watch her put a piece of banana in her mouth and take it back out immediately after making a face and wonder if it is sensory related or she just doesn't like the taste.  I watch her get frustrated when she wants something that she could climb and get off the couch - but she doesn't even try to climb; she merely gets frustrated and begins to cry.  I remember Ayden doing the same thing and I wonder if her spacial relations are also affected.  I love seeing the smile on her face as I count to three and she throws herself backwards to hang upside-down in my arms, but I can't escape the fact that she does it when she is upset and overstimulated -- that it appears she is craving vestibular input.

It isn't just my kids anymore.  I'm the one that friends ask about their own kids.  "Should we be worried?"  I don't think people really want to hear my answer -- they want me to tell them their child is fine.  That the delays Ayden has aren't anything they need to worry about.  I know because my answer is always the same, as is their response to it.  If you are wondering whether to worry, you should call Early Intervention for an evaluation.    I know other special needs parents will not be surprised by what comes next.  A dismissal of my recommendation.  A look of pity.  A courteous smile.  I never push, it isn't my place after all.   If there is one thing I've learned it is that a parent has to be ready to face the possibility of a problem before they will take action.

I do not enjoy being that friend.  I don't want to be the person who looks at children playing and sees possible delays. I don't want any of it.  I want the sweet innocence of a first time mom back.  I want to spin with my kids until we are so dizzy we fall to the ground giggling.  I want to run barefoot in the grass.  I want to play in the rain until all of use are covered in mud.  I want to go to the movies, to a baseball game, to the circus.  I want to go to a birthday party and not worry about my child screaming when the other kids sing "Happy Birthday".  I want to do all that without preparing, without having to wonder how long we will make it before we will inevitably have to leave ahead of schedule, without having to ignore rude stares, strange looks.

But then....


I remember that I don't need any of that.

Because I have him.


And them.


And them.


I really couldn't have imagined or asked for more, because Holland is pretty amazing* and I wouldn't leave for anything.

*The title of this post and last sentence are in reference to one of my favorite pieces of writing titled "Welcome to Holland" by Emily Kingsley.  You can read it by clicking HERE.






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Tuesday, April 2, 2013

Autism Insurance Coverage at Michigan State

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On March 29th, 2012 three public acts were passed (Public Act 99, 100, & 101) affecting insurance coverage of autism in Michigan. These three acts established a mandate for insurance companies to provide insurance coverage for children with a medical diagnosis on the Autism Spectrum Disorder (Asperger, PDD-NOS, or Autism). It established a tiered system that covered autism diagnosis, pharmaceuticals, psychiatric, psychological, and therapeutic services (speech, occupational, applied behavior analysis, physical therapies; and social workers).
· Children up to 6 years of age are eligible for up to $50,000.00 annually. 
· Children 7 through 12 years are eligible for up to $40,000 annually 
· Children 13 through 18 years are eligible for up to $30,000 annually.
These laws reflect an obvious consensus in Michigan that children on the Spectrum are deserving of the treatment afforded to other medical conditions. However these laws are not applicable to companies who are “self-insured” because companies that are self-insured are governed by federal laws. Knowing this, one of the three acts established a $15 million dollar insurance fund to reimburse self-funded insurance companies and encourage them to provide autism coverage.
Michigan State University is a self-insured company and thus is not legally required under any present laws to provide Autism insurance coverage. MSU’s current insurance providers presently treat Autism as an exclusionary factor for any therapeutic treatment and will deny any requests for therapeutic services if Autism is provided as a diagnostic reason.**

Let me say that again in case you missed it.  MSU's current insurance EXCLUDES any treatment for therapeutic services 
(speech therapy, occupational therapy, physical therapy etc) if Autism or any other developmental disability (including Fragile X) is listed as a reason for service.  

For us, as a family insured by Michigan State (where Mr Awesome is employeed) this means that Ayden receives all his services through our public school.  Out of pocket costs for a one hour session of his speech therapy run about $400.  At Ayden's current level of speech, he is recommended to receive 2 hours per week of speech therapy in addition to what he receives at school.  For those of you bad at math...that would mean $41,600 in JUST speech therapy per year.  That number doesn't even being to account for the occupational therapy he also needs. 

Over on the right hand side of this blog (and listed at the bottom of this post) there is a link for a petition to help promote receiving this coverage in our health insurance plans.  You do not need to be affiliated with MSU to sign the petition -- your signature just means you support adding this type of coverage for employees and families at the university that could benefit from this coverage.  Please take a minute to read over this petition and sign if you feel so obliged.  

**All wording before the double asterisk was taken from the petition directly.

Sign the petition for Autism Insurance Coverage at MSU


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Monday, March 25, 2013

STX 209 - Our Journey So Far [Update 5]

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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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Sunday, March 24, 2013

UNC Infant Study

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

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



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

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

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

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

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

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

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

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

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





If you have an infant or know someone with an infant with a premutation or full mutation of Fragile X OR has an older sibling with Autism, please consider being part of this study.  It's very difficult to find children that young to participate and the amount that is gained for helping others is so vast.  Even if you just want more information, I can put you in contact with the study and/or give you more in-depth at what we did, arrangements etc.  
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