Sunday, May 26, 2013

Morning Musings


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

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

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


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....


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.

Saturday, May 18, 2013


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.  

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:


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:

4)  Contact your congressmen.

You can find your representative here:
You can find your senator(s) here:

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:

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.


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.




Wednesday, May 1, 2013

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

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!!