I'll stand by you... Will YOU make the promise?

Just a heads up... I'm going to ask you to make me a promise...

If I were to make a list of things in life that make me struggle, undoubtedly you would find on it:
1. Not having control
2. The unknown
3. Not being able to fix something

Especially #3, not being able to fix something.  Right now, many of us in the Fragile X Community, including friends outside of the Fragile X world,  have come together doing everything we can think of - creating our own united direction -  to try to fix the problem that has been laid before us with the termination of the STX209/Arbaclofen extension.  While I pray and fight so that we can fix this, I also am preparing for that possibility that it might not to happen.  I've never been one to bury my head in the sand, I have to face what could be ahead.

I don't know what's going to happen when Parker & Allison start to come off this drug.  For Allison, I don't anticipate many changes and I believe we have more options to help her with her anxiety.  For Parker, I just don't know.  The changes in him have been so significant, so huge...I just can't image him being able to hold onto all of them without the help of this drug.  I'm praying he does but I just don't know.

I wish I could say I've been strong and confident through all of this but I haven't.  Despite my efforts to contact anyone who will listen and determination not to give up, while I fight -  I feel paralyzed with fear and heartache.  Each time I look up, all I see is his bright blue eyes. Those incredible eyes that look to me for answers and guidance, with trust and confidence.  Those eyes that believe in me. 

My mind wanders to all of the places we have yet to go, the things we want to do, to see, to experience, all of those things he has done that we never imagined possible and I wonder what will happen to that list.

My ears hear the incredible sound of his voice, the laughter that fills the house, the football picks we go through each week, the answers to my questions and I wonder what will happen to that voice.

My arms feel the gentle touch of his hand as he reaches for me, the squeezy hugs I get each day, the tenderness of his head on my shoulder as he laughs and I wonder what will happen to the soft touch he has gained.

I can't help but think of the look of confusion, the feel of frustration he will have when things start to change.  When he can no longer be who he is now.

I wish I had the answers.  I wish I could tell everyone in Parker's life what to expect.  I wish I could tell every family who's loved one is on this medication and about to be in my position of weaning their child off what will happen.  I wish I could tell you it's ok, not to worry that the progress made will not be lost.  I wish I could provide the funding so you didn't have to go through this.  I wish people knew life is hard enough raising a child(ren) with Fragile X without this being added to the plate.  I wish, I wish I could do something more than I already am.  Something I felt would bring peace and comfort to all of us right now.  I wish I could. 

While I take appreciation in the fact and am so extremely grateful for the fact that I still physically have him here with me, I ache and curse what I could witness as the Parker I know is taken from me with each lower dose until there is no more of this drug available for him.  No parent should ever have to watch that. No one should ever have to experience what so many kids like Parker may go through next.  Can you even stop to imagine that?  To look at your child and watch them no longer be able to communicate with you?  To be filled with frustration and anger where happiness and involvement once was?  Knowing you had a pill in your hand  just days ago that could give him his voice and happiness back?  Instead that's been taken and all you can do is watch...and wait to see how his body will react without this medication.  No one should have to do that.  Not ever.

I get that life isn't fair but this goes a step beyond "not fair".  This crosses a line of money over people and I'm angered to know it's not just the Fragile X community but many diseases who have lost funding for drug extensions or before they could go to FDA approval  because their numbers aren't large enough to bring in a big profit so the funding isn't there.  Because in the end, profit is more important than people.

The only thing I have control of at this moment is how much I love him, preparing those who care for him as to what we might see, and holding them to a promise to stand by him as we get through this.

While I was in the store today "I'll Stand By You" by the Pretenders came on.  I cried as every word rang true to me and I knew the promise I needed to ask of Parker's friends...

"I'll Stand By You"

Oh, why you look so sad?
Tears are in your eyes
Come on and come to me now
Don't be ashamed to cry
Let me see you through
'cause I've seen the dark side too
When the night falls on you
You don't know what to do
Nothing you confess
Could make me love you less

I'll stand by you
I'll stand by you
Won't let nobody hurt you
I'll stand by you

So if you're mad, get mad
Don't hold it all inside
Come on and talk to me now
Hey, what you got to hide?
I get angry too
Well I'm a lot like you
When you're standing at the crossroads
And don't know which path to choose
Let me come along
'cause even if you're wrong

I'll stand by you
I'll stand by you
Won't let nobody hurt you
I'll stand by you
Take me in, into your darkest hour
And I'll never desert you
I'll stand by you

And when...
When the night falls on you, baby
You're feeling all alone
You won't be on your own

I'll stand by you
I'll stand by you
Won't let nobody hurt you

I'll stand by you
Take me in, into your darkest hour
And I'll never desert you
I'll stand by you
I'll stand by you
Won't let nobody hurt you
I'll stand by you
Won't let nobody hurt you
I'll stand by you

We don't know what is ahead for Parker.  We don't know what he will lose and what he will keep.  The promise I need from each of you, whether you are his friend from school, the community, a parent of a friend, a relative - in whatever way you are connected to him... I need you to promise, you will stand by him.  In his darkest hour.  That you'll never desert him.  You'll never let anyone hurt him.  That you will always stand by him.

 My love for my children grows stronger with each second that passes.  I am their mom.  I will always stand by them.  I will always fight for them.  I will always be by their side.  Proudly.  Nothing can change that, no matter what is thrown at us. I need to know, you will too.

I know, with time, we will get through this.  I know there are new drugs in trial that I've heard are even better. I know Seaside will still push for FDA approval if the results being analyzed are good.  I know there is a chance the incredible group of FX families will pull off a miracle and save the extension.  I know, with time, whichever of those it is...we will be ok again.  But between now and then, I need to know - you'll stand by him.  I can't promise you it will be easy.  I can't promise you it will be fun.  But I can promise you we will, eventually, make it.  Just promise me you'll weather the storm with us.  He needs you, even when he can't say it, he needs you.... so do I.

Will you make the promise?  Will you stand by him?





To learn more about the termination of the STX209/Arbaclofen extension from Seaside, please visit the National Fragile X Foundation's Open letter with FAQ on this subject.

Fragile X is the leading cause of inherited intellectual disability and the leading known genetic cause of autism.  Learn more about Fragile X and all of the Fragile X Associated disorders from the National Fragile X Foundation at www.fragilex.org

Sleep helps...right? The calming of the news of the STX209/Arbaclofen end

I tend to do a lot. I play with the kids a lot. I work a lot. I volunteer a lot.  I always have something (somethings) going on.  What I don't do a lot of is sleep.

Everyone asks, "How do you get so much done?"  My reply is always the same, "I just don't sleep"  And while many laugh at that, it's actually kinda true.  I tend to sleep around 4 -5 hours a night, which looking at it that way looks like a lot to me.  Seriously 4-5 HOURS.  That's a huge chunk of time in my life.  But everyone needs to sleep sometime, I guess.

To say the last couple of days has been a hurricane of emotions is an understatement. To discover the drug trial extension that has changed my children's' lives is over, terminated, immediately... honestly put me through ever emotion imaginable.

The last couple hurricane days turned into one exhausted mommy crashing on the couch at 8 pm last night.  With Parker sitting on my feet watching TV and Allison on the floor by my head with her iPad, I slept.  Parker woke me up when he was ready to go to bed.  Even at 14, it wouldn't be bedtime if I didn't tuck him in.  As I climbed the ladder on his loft bed, I asked him,  "Buddy, if you can't have your pills anymore, will you still talk to Mommy?"  Not that either of us knows that answer but his response was predictable and what I wanted to hear.  "Yes"  he said followed by "Take a shower, hot boys won't like you" (that's a whole different blog there, lol!)  I grinned, fighting back tears wondering if a month from now he'll still remind me to shower, put on deodorant, or brush my teeth so "hot boys will like me"

This morning, 12 hours after I slept very soundly - I also have a sense of peace.  For the first time since the news broke, there is a calm to me.

I am extremely thankful for the opportunity for both of my children to have been part of this incredible experience.  I have been very public about the incredible changes Parker has seen from this drug.  I have shared major success stories from both children, as they both have had major success -  "major" is measured differently and Parker's "major" changes have over-shined his sisters.

I am thankful to the dedicated team at Seaside Therapeutics. I have had the privilege of knowing many of them personally and their dedication to Fragile X is incredible.  I am thankful to the donor that provided millions of dollars to get us this far. I am thankful they are analyzing the data from Phase 2 and Phase 3, and hopeful the results will be good enough for FDA approval.

I'm still angry that the extension ended so abruptly. I think that was shitty.  I don't think they had control over that either, it's not like them to do something so fast. So I try not to be too angry over it.

 I am amazed and in complete awe of the people who have contacted me, shared my story and reached out offering to help. I am proud of all of the Fragile X families who are not being quiet, who's worlds have been shook, just like mine - and are using their voice to say NO, we won't just let this happen.  Not without a fight to stop it first.

This isn't just about Parker and Allison...it's about an entire Fragile X Community.

I have seen everything from blogs: (you can click on them to read their story!)
*I am sure there are many more, these are the ones I am aware of as I type this.  I would be happy to add more, I do not want to overlook anyone, please feel free to add them in the comments!*

 To groups coming to our support:

Over 493 shares from the blog photo they created!

 To Petitions created:

To TV stories:

And this message from my incredible BFF, Melissa:
"I love all the excitement and determination I'm seeing regarding the study cancellation. If anyone has thoughts about funding sources or press attention, I would encourage you to reach out directly. We really need everyone to be helping and making noise!

I think some public pressure on Roche to continue or increase funding would be a good thing to focus on. Seaside is trying to find funding partners, Roche has been a source in the past and is still a good option in my opinion for more. Roche is a publicly traded company who's stock is on the rise, good press is very, very important for a company like that but getting them to LISTEN is hard. It takes a LOT of voices, a LOT of press attention to get it. I personally think Genzyme is also a potential partner BUT they don't have the same prior relationship. If anyone has PERSONAL or BUSINESS contacts at Genzyme that would be a possibility, random emails to a corporate office won't get us there, but there's not as much room for pressure on them as on Roche, IMO.

We all have a stake in this, in raising awareness, in proving whether this approach works or not, in making sure companies like Seaside can keep pushing forward even if this drug isn't perfect. It's the closest option we have right now to getting one of these drugs on the market and I believe the potential for intense press coverage if it succeeds would create even MORE investment in the other drugs also in the pipeline.

This is NOT just a business to these folks at Seaside as it is for many larger pharmaceutical companies. There is true passion for helping families here. There is true compassion for what we all face every day. They opened this company for the SOLE PURPOSE of helping US. They need help now and I, for one, will do anything I can to get them that help. Please...use your voice too. We need everyone, one or two people can't get this done alone.

I this community and I'm so proud to be part of it. Someone at a pharmaceutical company once told me that the passion and involvement of the parents makes fragile X research especially exciting...maybe the rest of these companies need to be reminded that we are here and we are committed to finding treatments and a cure."

I have received more email messages, comments, tags and twitter messages than I can keep up with (although I am trying!)  I cannot even begin to express how grateful I am for the support of my friends, community and complete strangers  - I am so thankful for each of you!

We are just getting started!  There is a group of us with a project that will soon be announced that we are working together on.  There are hundreds of us making calls, sending emails, making our message viral on Facebook, Twitter, Pinterest, any type of social media and mainstream media we can work with.  We are reaching out. 

We are hopeful.  We are trying.  No matter what the end result brings, we have raised awareness for this disability that impacts all of our lives.  We have come together with our communities, locally and online.  We have seen that we are ONE united voice.  We are not giving up...we are aware we may not win this battle, but we won't walk away without a fight either.

We are... just beginning.  And I am so proud to be a part of the team.

Please help us.  Please help us get the message out.  The more we reach out, the more our message is shared, the more people who hear our stories... the more likely we will cross paths with the person who has the answer, our fragile x hero.  We believe that person is out there.  If not for this plea, than for the National Fragile X Foundation that supports our FX community overall who could use their backing to support families all over who live with or love someone with a fragile x related disorder.

Yes, there is a calm to me today.  A peace in knowing thousands of people are by my side.  No matter the result, I won't face it alone.


Thank you all.




Fragile X Syndrome is the leading cause of intellectual disability and the leading known genetic cause of autism.  To learn more, please visit the National Fragile X Foundation's Website at www.fragilex.org

STX209/Arbaclofen... my life flipped, turned upside down.

Now this is a story, all about how, my life got flipped turned upside down...

I wish the ending was as happy as the Fresh Prince of Bel Air, actually... it still could be.  The end credits have not yet started and I am pressing pause.

A couple of days ago (5/15/13) the news broke that Seaside Therapeutics was terminating the STX209/Arbaclofen extension because it had run out of money to fund the extension and manufacturing of the trial drug.  They will be analyzing data from phase 2 and phase 3 which will be complete at the end of the summer.  If the data is good enough, they will send it to the FDA for approval. They are looking for private funders to fund the extension but have not yet been successful.  So, good news, bad news.

That night, every fear filled my heart and my mind. My life has been flipped, turned upside down.  That night, I cried.  I couldn't stop. I coped by writing a very raw, heartfelt blog.

Let me back up a little bit to the first time my life was flip, turned upside down...

In March of 2003, my very handsome almost 4 year old son, Parker, was diagnosed with Fragile X Syndrome, the leading cause of intellectual disability and the leading genetic cause of autism. 2 months later my very beautiful, then 7 months old, daughter, Allison was also diagnosed. Both children have the full mutation of Fragile X.  An inherited disability they got from me.  Me.  Their mom. Of all the things in life I wanted to give them, a mutated gene was not on my list.  The problem was, I had no idea I carried this gene mutation.  Neither did my father.  Or his mother.  Or her father.  Or his mother. For 5 generations, we didn't know this gene mutation was being passed through each generation.  The 6th generation brought answers when 3 of the 4 grand children were diagnosed with the full mutation of Fragile X.  (my 2 plus one nephew - and one nephew without).

Fragile X is a spectrum disorder, and our family is living proof of that. Parker is the most affected of the 3. 
Brad is the oldest.  He's always been articulate.  His muscle tone is not the greatest, he's more on the quiet side.
Parker is in the middle... like his momma... he has fairly decent muscle tone, but lacked the speech.  The speech and fine motor skills just didn't develop. And it wasn't because "he's a boy" like I was told a million times, it's because he has Fragile X.  Parker is a ball of frustration and that comes out in aggression.  He is constantly at war with his body and that came out in aggression, mostly taken out on his mom.
Allison is our baby.  The youngest of the 3 grandchildren listed (Austin is the very youngest).  She's a girl and has the benefit of 2 X chromosomes.  She is lucky, mildly affected she struggles with anxiety and social skills.  She has sensory issues but most are manageable. She has an average IQ and if we didn't know about FX, she would have never been tested.  Luckily she was and we can recognize her anxiety and understand her struggles.

The first several years of Parker's life were not easy.  He screamed for everything.  He had a happy scream, a sad scream and "I want that scream".. He screamed.  It was how he communicated.  When he was overwhelmed, he got physical.  He's always been a thrower, my reflexes are top notch.  At his most difficult of times, he would physically lash out at me, hitting, biting, kicking, hair pulling, head butting, spitting... all of it.  It was a form of communication.  It always told me something.  He was overwhelmed, scared, frustrated... it had a purpose.

It was not easy, for either of us.  Or our family who watched.  But, it was our life.  I was prepared, everywhere we went for a meltdown to happen at any given minute.  In the store, in the driveway, at school, at my parent's house, at home.  Because they happened.  Several. Times. A. Day.

My body was one bruise. Fingertips to shoulders.  Thighs to toes.  Bruises. Often swollen, painful bruises.  I rarely took a picture of them, I always kept them hidden.  This is not part of my life I had ever wanted to share.

I hid the bruises from my family, my friends, the world.  The last thing I wanted was for anyone to judge Parker or jump to conclusions about him without understanding him and his disability first.  There was enough judging and criticizing going on already. I was not going to expose him to more.  I ... was going to protect him.  Protect him from a world who was already quick to judge him, a world that wanted a reason to say he didn't belong.  I hid this from everyone.

 I've only shared these pictures twice.  Once was in a meeting with Seaside Therapeutics after Parker had been on the extension for 7 months.  I proudly wore short sleeves and exposed my bruise free arms.  I was no longer needing to wear sweaters or hide my arms. I wanted them to see how far we had come thanks to their efforts.

The aggression was the main reason the decision was made to enroll Parker in the STX209 trial.  The hope was to reduce the aggression.  Parker spent a lot of time at home.  He was a part of the Special Olympics team, which he loved.  He loved school and his teachers and classmates were incredible, but it was hard for him.  More times than I can count I was called to the school because his meltdowns were so rough.  He was making progress, he was trying, his team was trying.  Small steps, which were huge victories for us were made each day.  He was on a cocktail of medications that was working better than others in the past.  He needed more though, something significant.  That's when the opportunity to enroll him in the trial came and we took it.

Parker was 10 1/2.  He had limited language.  He could say a few words, and would repeat after me (usually if I threatened to tickle him) things like "Thank you" or "Love you" rarely did we get more than 2 words together at a time but we always tried.

The trial was a double blind placebo, and while during the first part there was no change at all... during the 2nd part a couple weeks in after a glass was broke in the kitchen while my back was turned Parker said, "I am sorry mom. I love you."  My heart stopped.  My world stood still.  I turned and behind me saw a face filled with concern and emotion.  I hugged him so tight and for so long.  10 1/2 years... that's how long it took to hear "I love you" unprompted, without cues or requests but from his heart.

That was the moment I knew.  This drug was something special.

After the trial, Parker was rolled over into the extension.  His progress just continued.  Things we hoped for, "normal" things, were becoming part of his life... school dances, going to the public pool, going down the water slide, going to the movies, going out to eat, family get togethers, birthday parties for friends, and his speech... oh his speech.  Words turned into sentences.  He started telling jokes (Thanks to Mrs. S who told one daily in Tap class!), my son was emerging.  For the first time, not only could I really see what was going on inside of him - but so could others.  They could see what I said was always there.  Academically his workload continued to double, expectations increased. Even now, at 14, after 3 1/2 years in the extension he is doing things he could never do. Things others see as simple or normal... wearing jeans, wearing regular shorts (for years he's only worn the silky basketball short and silky track pants due to sensory issues), today he even asked to wear a new polo I bought him to school.. it has a collar!  That may not seem huge to many but if you have a child with sensory processing difficulties - that is HUGE!

He went with his class for 3 days to Outward Ingersoll where they worked on team building skills.  He thrived, doing things just like everyone else (with the support of the other kids) - he made it over "The Wall" just like everyone else. His classmates worked as a team and cheered his success!  This is what we have worked for.  This is inclusion & acceptance at it's finest.

 Parker has life now.  Yes, he still has challenges.  Yes, he has a LONG way to go.  But he's come so extremely far and I know it is because of the STX209.  He made too much progress too fast for it to be anything else.

Allison is also on the STX209 Trial.  She is much less affected than her brother, yet her social anxiety is through the roof.  While the changes this drug has made in her appear less obvious, they are still - significant.  They also give her more life.

There are things Allison could not get past her anxiety to do - like going to the neighbor's house to see if her friend could come out and play.  Or in the theater, going to find a seat while I helped Parker who wasn't quite ready.  Doing anything independently meant tears.  Her anxiety filled her with so much fear it paralyzed her, leaving her in a meltdown of tears.  The drug took that away and replaced it with confidence.

A couple of weeks ago, she stood on stage with the other 4th graders who had earned their "black belt" in recorder... something only a handful earned... in front of a full auditorium and played beautifully without skipping a beat or anxiety taking over.

Since the news broke that the study extension is being terminated immediately, my heart has filled with fear and pain.

I've seen the progress.  I see the difference it has made in both of my children.  And while it is the regression I fear I will see in Parker that scares me the most, my heart aches for my princess who has just found her confidence.

I can't do anything without tears at the moment.  Last night, at the grocery store as I walked up and down the isles I could hear Parker's voice telling me what he would want.  Bananas, but none with dark spots, Rice Krispies, Captin Crunch - the red box, "Jared chips", and zoo pal plates.  I can't help but wonder if our life will go back to pointing and me guessing.  Tears, in the grocery store over a voice I fear will become just a memory.

As I mowed the grass last night, Parker kept himself entertained.  Jumping on the trampoline while I mowed the neighbor's grass, then coming inside and playing wii and on his computer while I mowed our grass.  He couldn't do this before.  I couldn't leave his side.  He would have demolished the house, screamed, banged on windows, stood outside throwing anything he could at me until I stopped... just a few short years ago.  Tears... as I wonder, is this what the rest of my summer will have again?

Last night we talked, he talked, I listened taking in every word as he excitedly told me about next week's school dance, about the dinosaur shrinky dinks his sister got him on her field trip that we will do tonight. He's excited, he wants to do these things.  After I wean him off this drug... how will I know?

Early in the extension we had capsules (instead of the pills we now have which dissolve).  Each visit you had to bring back your empty bottle "A"s and bottle "B"s.  I had always kept the bottles in the same place, by the book we have to document everything in. When I went to pack things up the night before our long drive to Chicago...they were gone. I panicked.  I knew if I didn't return them, we would not be able to continue on the study. I looked everywhere.  I took a small kiddie pool, emptied all of the garbage from the bags in the garbage can into the pool, picking through it and putting the discarded pieces onto a tarp to be rebagged.  I spent hours going through garbage and searching my house.  A million things went through my mind, most of them revolving around the things we do for our kids!  I was PICKING THROUGH GARBAGE!  The pills were not there, my panic, anxiety and fear of not finding these empty bottles were overwhelming. Turns out, they were in a corner cabinet, I had moved them from the counter into the cabinet when I was cleaning.  (that falls under *reasons I should not clean). 

The last 3 1/2 years have given my family life... opportunity.. hope.  That has all been pulled away.  Our life, well - mine as I refuse to tell the kids what's going on, has been flipped, turned upside down.

I am a fighter, I think it comes with being a carrier of the fx gene mutation.  Together with other parents, including my BFF, Melissa -  we are fighting this.  We are working every angle we can, Government, TV, Newspaper, Magazines, News organizations, social media, petitions.

I've been told I can't do this.  I can't fund the millions needed.  I believe we can.  WE can.  Together.  But it's going to take everyone, everyone coming together and making some noise, getting our voices heard. I believe if we keep getting the word out, it will fall into the right million dollar hands and this extension will be saved. 

     I made a promise to my son that he'd always have this drug... I'm not about to break it.

I am taking the advice of our friend, Angie, who once told Melissa to "take the fear and turn it into fierce".  We are taking that advice.  We are not giving up.


I've been asked if I see this as a "sign", a sign to move on - that there is something else, something better out there waiting for Parker.  Maybe.  Maybe that is what this is a sign of.  However, there isn't anything for Allison... or Caleb or others who are younger than Parker which makes me believe that this... this was my sign to fight.  To fight, once again, for what is right for Parker, Allison, Caleb and the entire FX community.  Maybe my sign was it's time to motivate others again, to bring the FX world and the real world together for the lives of many. 

I don't know.  What I know right now is I can't give up.  I have to try.  And I'm not alone.  We are in this together.  All of us.  WE have to try... we have to succeed. 

If I am going to have my life flipped, turned upside down... I'm going to find that Prince at the end of it.


To learn more about Fragile X Syndrome, please visit the National Fragile X Foundation's Website. www.fragilex.org

3 1/2 years... When a drug trial ends...

3 1/2 years ago really wasn't all that long ago, yet it feels like a life time.

3 1/2 years ago, Parker (who has Fragile X Syndrome) was 10 1/2.

3 1/2 years ago Parker could barely talk.
3 1/2 years ago Parker left massive bruises on my body daily.
3 1/2 years ago Parker could rarely make it through a day of school without a complete meltdown.
3 1/2 years ago Parker couldn't go to the movies.
3 1/2 years ago Parker couldn't go to the pool.
3 1/2 years ago Parker couldn't tell me about his day, his wants, his needs.
3 1/2 years ago Parker couldn't tell me he loved me.

3 1/2 years ago, I took a chance.  I enrolled Parker in a drug trial by Seaside Therapeutics.  A drug called STX209, later to be named "Arbaclofen"

While it may seem easy to make the decision to put Parker into a drug trial he clearly qualified for, it wasn't.  It's scary as hell to make that decision.  With this one, the decision was made a little easier because this drug was a tweaked drug of Baclofen, something that had been on the market for years.  I knew the long term side effects.  I knew, long and short term, it would not hurt him.  So, we did it.

Every 2 weeks for 16 weeks we drove to and from Chicago, 4 hours each way, 8 hours round trip.  Usually for a 15 minute check up.  Sometimes for longer for cognitive testing, paperwork (that damn Vineland takes forever), blood draws, etc.

The first visit it took almost a full hour to get Parker from the van in the parking deck into the Fragile X clinic.  I was not only exhausted but covered in bruises when we finally made it in the door.  While many people walked by as we sat on the hall floor together either in tears or pep talking or me trying to remove my arm from his mouth... this was normal to us.  Nothing about this frustrated me or was out of the norm.  This was just our life, this was the life we knew but were hoping to change.

The drug trial proved to be life changing. It was a double blind trial, nothing changed during the placebo time... everything changed when he went on the real thing.  For the first time ever, my son said, unprompted, not mimicking but on his own "I love you mom"  (you can read about it here  ... or here .... ).  I held him so tight and cried.  10 1/2 years and worth the wait to hear it repeated over and over since that night.

The drug had received approval to go into an extension - because so many patients had the outcome of such incredible improvement.  The extension was to last until we had FDA approval and the drug was available to everyone with the hopes of FDA approval in 2013 or 2014. 

During this time, I traveled to Massachusetts and met the incredible and dedicated staff at Seaside Therapeutics.  I worked with the press to show the incredible changes this drug made in Parker, tv, newspaper, magazines... all of it.  If a phone call, letter or email was needed to the FDA or government, I was on speed dial.  I made it happen. Parker was improving every day, even today... he still continues to improve.  I often gave the example that Fragile X had left Parker living life in a box with the lid tightly sealed on.  This drug took off that lid.  It let him out of the box and no matter it took, no matter what I had to do, no matter who I had to call, email, travel to see - I would never make him live life without this drug again.  I would never let anyone put that lid back on the box with him inside. I made this promise to Parker.

I was asked during an interview, "Does Parker know that these pills help him?"  Every morning and every night, the boy who used to fight taking his medicine asked for his pills.  Did he know?  Yes, Clearly.  He knew.

In the past 3 1/2 years, I have watched my son blossom into an incredible young man who is now 14.  A young man who still faces the struggles of Fragile X but to a much lesser degree.  A young man who rarely ever physically attacks me and when he does, in moments of sheer despair, it is nothing compared to the aggression of his past.  A young man who is incredibly active in school, significantly increasing his workload.  A young man who can go to the movies, to the pool, to the store, out to dinner.  A young man who has become part of our community in many of the same way his friends are. A young man who can tell me when he's hurt, sick, scared, happy, excited, what he wants to eat, what he wants to do, when he is cold, when he is hot, who is friends are... a young man who can tell me he loves me.

I knew that Seaside was having trouble financially.  We had seen staff go.  We had been told there was financial difficulties.  We were told if the study needed to end we would get 4-6 months notice.  We never stopped believing we could make something work.  Seaside never stopped believing they could make something work. 

For 3 days this week, Parker is at Outward Ingersoll with his 8th grade class.  He has been doing everything from canoeing, to learning how to tie knots, to first aid, to tracking to climbing walls and walking rope bridges.  Today was day 2.  For the 2nd day in a row, the young man who hasn't been able to wear jeans since kindergarten has worn jeans to school (long pants were required for this trip).  He has successfully with the help of his friends, been a part of every activity and successful.  This is something he could not have done 3 1/2 years ago.

Today, as I am getting FB messages and texts with parents who are there witnessing his accomplishments, updates filled with pride, I never saw the email coming that said, "They are ending the STX209 trial immediately."

That's it.  It's over.  Seaside will be analyzing the data from the placebo-controlled trials and will continue to work for FDA approval if these trial show benefit that is sufficient for approval. So, yes a tiny slimmer of a glimmer of hope but nothing that will happen right now.  Nothing that will stop the medicine from ending in the next couple of weeks and in all honesty, from what I've learned of FDA drug trials/approval... I'm not holding my breath.


I am thankful to Seaside, the doctors at RUSH, the study coordinators -they have given me a real look inside my son for 3 1/2 years and I love what I see.

My heart is so broken, hope has been replaced with fear and pain.  There is NO WAY I can explain to him why the pills will be gone.  There is no way for me to stop what is about to happen.  There is no way for me to prepare him, myself, his sister, his friends, our family for what could happen next. 

I have to do what I swore I would never do again... put him back in the fragile x box and close the lid.  I am so angry that I have dedicated so much time and heart into this... I have convinced other people to start the trial.  I talked my best friend into putting her son on it.  And now, not only do I have to see the pain of my family, the confusion of my son, the lid go back on his box... but I have to watch my friends go through it too.  I have to watch an entire community of people I love and would do anything to make their lives better for hurt.  All I can do is watch. I  can't fix it.  I can't take away the pain.  I can't do a damn thing. Nothing.

I am so scared of what the future now holds for Parker.  I am pissed off that I know I will have to watch him regress.  I will have to watch him live with the confusion of why I am not fixing this.

Parker starts high school next year.  A new school.  A new teaching team.  And no drugs.

There are other clinical trials and I will look into them.  That means driving back to Chicago every 2 weeks, 8 hours round trip, $100 in gas each time and a day off work.  Not exactly in the budget of a single mom but something I will figure out if the right trial is available.  A new trial with an outcome I cannot guarantee to be better. A trail of a newly formulated drug that I will have to go into not knowing how it will affect my son long term. 

Tomorrow, tomorrow I will pull myself together and start discussing options.  Tomorrow I will focus on hope again for the families impacted by this and a way to help them cope with the - what I can only foresee as devastation - that awaits us as we are titrated off the current drug and left with nothing.  We have amazing teams at the Fragile X clinics who will work with us, help us find the next step in the path for our children.  They are dedicated and want the very best.  I believe in them to help guide me, to guide us.

But today, today I cry and I can't stop.  I have tried.  I need to cry.  I hurt more than I can put into words.  I need to cry.  The fear of the pain of watching the regression that could take place is just overwhelming. The fear of losing the young man I've enjoyed so much for the past 3 1/2 years.

For the next few weeks, I will do my best to fight back my tears while Parker is awake. To treasure every single second with him where he can talk to me.  To tell as many jokes with him as he can tolerate because he loves jokes more than anything.  To talk about the Bulls, the Cubs and whatever sport team he wants until we've covered everything about them.  Record every word in my memory and pray to God he doesn't lose his ability to communicate. 

My hope right now is that he has matured enough in 3 1/2 years and made progress that was credited to the drug but was really him.  Time will tell. 

All I can do now is wait... and pray that with this change I don't lose the young man who was let out of that box.  He shouldn't ever have to have the lid put back on.

I promised him.  I promised him I would never let that happen.  I promised him.

I failed.  I am so sorry.  So very sorry.


To learn more about Fragile X Syndrome visit the National Fragile X Foundation at www.fragilex.org
*Fragile X is the leading cause of inherited intellectual disability and the leading known genetic cause of Autism.

Mother's Day, mom fails and boxtops - Oh My!

Ahhhhh... Mother's Day that one day a year that is set aside to force our children to tell us how much they love us and how awesome we are! The more beautiful, creative, impressive the message the better! Those spectacular expressions from the children that let you know how much their mom deserves pampered, a day off, a make over, pictures, jewelry, a vacation etc... those are the messages we want to see on Mother's Day, right?  Riiiiiiight.   I mean that's what we see in the media,  those are the stories that make the TV, newspaper and magazines, those are the ones that win contests, kids that express how incredible their mom is.


I could do that.  I could easily write a blog, enter a contest, submit a newspaper or magazine article on how awesome my mom is.  Because she is and she is deserving of it (seriously, she survived raising ME  - that alone makes her deserving and awesome) but also, because I can.  I can use my words both verbally and written.  I can express my thoughts and feelings, usually with ease. 

My mom and I, July 2012

Not everyone can though.  So what about those moms?  The moms of children who can't talk well or at all?  The moms of children who can't write out their feelings?  Are they less deserving of pampering, a day off, a make over, pictures, jewelry, etc...because their children can't express their thoughts?

I've watched many of these contests evolve in the 14 years I've been a mom, mostly in the 10 years that I've been part of the Fragile X world and really noticed how exclusive these contests typically are.

I have seen incredible, heartfelt and truthful nominations beautifully written by husbands, siblings and friends on behalf a child with special needs submitted to contests about how incredible the mother is ... and I've read the rejection/disqualification letters from contest organizers supporting their rules that the nominations have to come from the child themselves to qualify not someone speaking for the child and guessing their feelings.

While I'm happy to see this is changing and many contests offer the option of anyone nominating a mom, there are still those who are set that if it's not from the child, it doesn't count.  Those are typically the ones with the biggest, most elaborate prizes.  A package deal for mom with a make over, photo shoot, flowers, dinner out, massage, pedicure, manicure, jewelry, and mini getaway vacation.  The best prizes, right?

I know what it's like to be on both sides of the abilities of children.  I have a son who couldn't tell me at all until he was 10 1/2 that he loved me unless he was prompted and repeating my words. At 14, he can't tell you why his mom is awesome or why he loves me.  I also have a daughter who is 10 who can, and always has been able to, express herself both verbally and in writing.  She, too, has Fragile X and wouldn't do well put on the spot but would still be capable of providing a lovely, from the heart, answer. (that would also include how when she gets sick and misses something important it's my fault for jinxing her.. which I do just by speaking!)

My babies :-)

While I think every mom doubts herself and the job she is doing raising her children from time to time, the moms of children with special needs tend to doubt themselves even more.  Maybe it's because many of our children can't tell us how awesome we are.  Maybe it's because we have so many life impacting decisions to make.  Maybe it's because we spend so much time having to fight for therapies, services, insurance and to be a part of something that we are left questioning why these fights still occur. I mean, if we are right... why is it such a fight?  All things that make us doubt our parenting.

Then there are the "little things" that make us feel like we fail.  Like boxtops. The only reason Allison has box tops to send to school is because my mom saves them for her. Yes, it would only take 3 seconds for me to tear the box apart to get it off, those very 3 seconds I am also typically doing at least 8 other things.  Could I add one more and rip the damn thing off?  Yes.  Do I? Not usually.  Do I feel like the worst, most failure of a mom ever - especially when on recycling day I see the recycling guy take the time to tear them off as he checks what is dumped into the truck?  Oh, very much so.

I don't have the most organized house (and by that I mean not at all organized, except for maybe Parker's closet where I feel the need to organize his shirts by color on those rare occasions that the shirts actually get hung up), I am not the greatest housekeeper, I never get pictures into photo albums (although I do have boxes, SD cards and external hard drives full of them), I've never made a scrapbook of their lives, I'm typically running late, most days I'm lucky if I can squeeze in time for a shower, I let my children eat in front of the TV, I have a limited menu of foods I can cook, sometimes I mow over the dog poop in the yard because I don't have time (or am not in the mood) to pick it up, I cry through even the best IEP meetings, I don't always have the answers... I really could go on with this list for quite awhile, but I think you get it... I have reasons to feel like I am failing my children, did I mention I don't cut out the damn box tops?!!?!

I can also tell you why I am a good mom, so can my family and friends.  Perfect? No.  Good. Yes.  But, I won't and neither will Parker... because he can't.

He also can't tell me not to feel like I sometimes fail.  He can't say that I don't have to have the laundry done or a shower or be decked out in pretty clothes with my hair and make up done for him to be proud of and love me.  He can't say that the things that make me feel like I fail, don't matter.  Not verbally.  But his eyes, even though they can't always look at me, do. They tell me he loves me, unconditionally, regardless.  And that, that is what matters.

This Mother's day I want to give special recognition to every special needs parent who has a non verbal or limitedly verbal child, or child who can't put their words into a powerful message, a child who can't enter a contest to tell you how awesome you are.  And yes, awesome you are!

Special needs moms live different lives.  We often live in two different worlds.  The special needs world and the outside world.  We do our best to fit in amongst our typical family and friends, in our local communities to find our place and feel like we belong, even at the grocery store.  We do our best to help guide each other through the trials and challenges of the special needs communities, too.  Sometimes, we try to live in both of those worlds at the same time and bring them together.

We have a greater appreciation for the real "little things", celebrating the "Inchstones" (thanks Paula and Melissa for that!) as much as the "milestones".  We know what it's like to see our children not do things by the charts, making those first steps taken, words (even if only understood by us), signs, or attempts at communication - no matter how late they come much more treasured, appreciated and celebrated.  The things like seeing our kids dress themselves, make it through the night without an accident, attempt to fix their own bowl of cereal, or spend 15 minutes trying to translate their actions into what it is they are trying to tell us more important than the 3 seconds it would take to rip the box top off .

We often know Special Education law better than the school districts, how to correctly code therapies so the insurance will cover them better than the people on the other end of phone, how to hide our emotions that our children feed off of so our children can have better days, how to smile and face the world when inside we are scared of what that world holds for our children.  We know how to fight and when to concede.  We know the top specialists, programs, therapies... the most recent research, the current legislation that needs passed, how to advocate...

We also know how to survive taking a 14 year old into the women's public bathroom when he needs to poo because you can't walk into the men's room to wipe his bottom or how to stand anxiously outside the men's room door waiting, watching every man who walks in and out and praying they aren't someone evil making a 2 minute independent trip for our son's to pee feel like 2 hours.  We know how to survive a meltdown in the grocery store, not just helping our children through but also educating the people who comment, stare and criticize us and our children.  We know how it feels for parents of typical children, family or well intentioned friends who have no idea what it's like to raise a special needs child tell us how we are doing it wrong and ways to do it better.  We know how it feels to have our children excluded, made fun of and mocked.  We know heartache, pain and fear.

We are the best bottom wipers, catch puke in your handers, smile instead of telling off peoplers, fight for what's righters that ever graced the earth.  We stronger than we ever dreamed possible.  We are hopeful.  We are proud.  We are... amazing.

We know by the hugs, the kisses, the flapping, the gaze of the eye, the smiles that we are loved by our children.  We know by the successes, we know by the simple fact that we survived another day that we have done the right thing, even when the right thing is learning from a mistake.

While the moms I know of special needs would love and deserve an awesome prize package of the "best" prizes (with a make over, photo shoot, flowers, dinner out, massage, pedicure, manicure, jewelry, and mini getaway vacation...etc) what they'd really love this Mother's day is to hear their child's voice, to have a successful trip out of the house with their child without a meltdown or disproving stare, a dinner together without anyone throwing up, maybe even a cure.

Truthfully, the best "prizes" in life are ones you can't win but the ones that call you "Mom", "Grandma" or "Aunt" in whatever way they can.

We are, just like our friends of typical children, amazing moms.  Please, don't ever doubt that just because you feel like you are failing or because your child can't express that to you, or because you didn't take 3 seconds to rip off the box top.  We see it in you, your children see it in you, we know... even if you don't get the box tops ripped off the box.  You're doing a great job.  Take a deep breath in... and out... now, quickly - go see who's yelling for you now, your break is over!

Happy Mother's Day :-)

To learn more about Fragile X Syndrome please visit the National Fragile X Foundation's website.
*Fragile X is the leading cause of inherited intellectual disability and the leading known genetic cause of Autism.