Friday, May 17, 2013

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 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, we will move forward, we will figure this out.

I don't know right now what the answers are... what I know is that we are not alone.  We are all in this together.

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

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


  1. I'm crying. Knowing tbe dread you have because we are living it every day. AJ is that nonverbal boy. I had seen your story and hoped we would one day hear I love you from AJ. Now I'm scared without the chance of the wonder drug will he be stuck in the trap of Fragile X?
    We have to fix this!!!!

    1. We do have to fix this! We also need to remember there are other incredible drugs currently in trial. The one I am watching closely is the AFQ056, there are others showing great promise too. While we work to fix this, we will continue to support the other trials too. We want lots of options!! Lots of them. Don't lose hope!

  2. Both my boys are Fragile X and non verbal. We have heard a few words out of their mouths but nothing like I want to hear just like Tricia says above, I want to hear "I Love You MOM! I know they love me. I can see it in their eyes. They are both smart. Although Alex who is 16 and more on the severe side is lacking in social skills, has sensory issues and aggression. I made the choice in 2007 to place him in a facility called Chileda in LaCrosse, Wi. My heart just broke when I left him there. I cried and cried and cried. I still cry as I as a Mom feel like a failure. This is MY fault, I gave him this bad gene. I did it. But after we saw Alex gain alot of skills like the major one......going to the bathroom on his own. It was a HUGE milestone and I was way beyond happy. I thought and felt Ok I did the right thing. Then it came to an opening at a foster care home in the city we live in and I was thrilled. Yes he still struggles sometimes with home visits and such. But I have heard MOM more than I can count on my fingers. But they are not enough. Alex's younger brother Andrew is 12. He is very social, understands practically everything your say. But one thing he lacks is speech also. And who knows maybe if this drug will finally get approval from the FDA and the funding it needs. Would both my boys talk?? That is the million dollar question. If ONLY I could be given that opportunity to help my boys. If they only they had that chance. I would. Please help the thousands of kids and their families they deserve it don't you think?

    1. Kathy, Guilt is something I have struggled with for years... please know, this was NOT your fault. You didn't chose to pass this gene along to them. You had no control over that. Just as I had no control over passing something I had no idea I carried along to my children.
      It is just one of the many reasons we need to push for newborn screening, adult testing and more. Everyone should be screened for Fragile X. Everyone.
      I pray one day you both hear your boys say "I love you mom" ... as I know they do so very much!

  3. I know the feeling this is really hard to find out especially when you had no clue it was an issue. The only thing I could remember me saying to myself, is why me I don't drink, smoke or do any type of drugs, why me. 21 years later, now trying a new drug (Baclofen) and hoping and praying for that miracle. I want to be able to have a conversation with my son, to do things together without the push and pulling that we usually go through. I want to enjoy life with my child finally...