I have a little more to say... STX 209, Hope and following the light.

A week and a half has passed since families, including mine, learned that the extension of the stx209/arbaclofen trial was being abruptly terminated.

To say I have felt every emotion possible, while an understatement, would probably explain my constant feelings of exhaustion.  I’ve taken some time to step back this past week, spending more time absorbing every minute I could with my children and less time concerned with the world around me. I should make it a habit to do this more often.

This is a very scary time for my family and the approximately 250 like mine who are about to face the unknown.  I am beginning to hear the results of families who have started weaning their children from the drug that has changed their lives and while some results are not horrible, some families are really, really struggling.

There are a few things going on right now and I fear the bad is overshadowing the good.  That’s easy to do, especially when you are in shoes like mine and the unknown is about to beat down your front door.

We have the reality that the extension is ending and the impact this has on families like mine.  We were, honestly, blindsided.  While we all understand that when we agree to participate in a trial extension that it could end, we also expect some real notice.  And by that I don’t mean an email that says it’s over, thanks for playing.  I mean real notice and, if possible, a plea for help if there is even a tiny chance that we can do something to make a difference.  For me, the fear of aggression returning to my son, who is now  3 ½ years older and physically stronger, compiled with his knowing what it feels like to be more verbal, independent and able to better function – is a bit paralyzing. The gut instinct is to stop it from happening, even if I am not really sure of the direction to take to make that happen. 

We also have Seaside releasing the study results saying that the initial study “failed”.  If I had a penny for every person who asked me “how could this really be helping Parker” (vs. maturity) if the results say “it failed” well, I’d be a lot closer to having my house paid off.

The reality is this drug did help.  Not just Parker.  Not just Allison. But hundreds of individuals,  200-300 individuals chose to stay in this extension because this drug did make a difference.  I chose to drive 4 hours each way more times that I could count so my children could be in the extension and have this medication.  Why?  Because I like to drive 8 hours round trip a day, pay $100 in gas and meals and miss work?  No.  I did it because this drug had a dramatic and positive impact on my children, this drug changed our lives.  I wasn’t the only one who saw it. Other family members, friends, teachers, doctors - our entire community - saw it. Everyone was amazed, everyone will tell you that the changes were real. So, if this really happened – how can the trial have failed? (Please note the results of the portion of the trial Parker and Allison were in are not yet completed.)  The answer is simple.  When it comes to a clinical drug trial, the FDA states there must be one target symptom.  Now, if this were something like a specific type of cancer we could take an MRI and see the tumor, take the drug then repeat the MRI and if the tumor was shrinking, we know it’s working.  That’s easy to target.  Fragile x, however, is not simple.  In fact, like Autism, it’s very broad and complex.  In a developmental disability, like fragile x, there is so much going on:  anxiety, aggression, behavioral outbursts, sensory processing, speech and language, cognition, overstimulation and possibly at least a dozen issues that can typically be seen in someone (with fragile x). This makes developing a drug treatment and clinical trial very difficult.  Why?  Because the FDA requires that drug developers choose one target symptom and that the symptom will get better on the drug.  If that one target area fails to improve on the drug – even if it does help any of the other core symptoms – that specific drug trial is considered a failure.

So, even if this drug did drastically improve Parker’s speech, language, cognition, aggression, sensory issues and behavioral outbursts – if it did not meet the target of the trial, it’s considered a failure to the FDA.

As a mom, there is no question in my mind that this drug works and made a difference in my son and daughter.  I’m not a scientist or a doctor; I’m a mom who watched the extreme changes in my son.  This cannot be a placebo effect. The difference has been life altering. But none of the things that improved in my son were the target in the Seaside trial.

We need to see right now, through our fear and uncertainty, the good too. We need to acknowledge that we’ve made huge progress.  We ARE onto something with fragile x research and the clinical trials that are going on.  It would be a tragedy to miss that and its impact.  We need the FDA to understand that disabilities like fragile x need to have a more global approach to base results on, we need funders and investors to see the incredible progress we have made.  We need our families to remember, during this very difficult time, that hope is alive, great progress has been made and we need that to continue.

This means that families must not be discouraged or frightened away from future clinical trials. The only way that these new drugs will get before the FDA and get approved is if parents continue to allow their kids to participate in clinical trials. There do not appear to be any safety issues with these drugs-only significant difficulties measuring results and conveying that to the FDA within the current constraints of clinical trials.

I know it’s scary.  I know we are all afraid of being blindsided again.  I get that.  Trust me, I get that.  I have always been very open about my support and belief in research.  If we do not participate – who will?  If we don’t, how can we keep making progress?  If we fail to see the significance of the good results, how will investors? If we don’t keep moving forward, what will the future be for our children?

I am not saying don’t fight, don’t grieve, don’t be scared about the days ahead as we wean our children off of the medicine that changed our lives.  I am saying, don’t lose hope.  Don’t give up. Don’t stop believing because we ARE going to keep moving research forward, we are onto something here.  SOMETHING HUGE, something that is not specific to one drug company but affects all of the drug companies working for an effective treatment and maybe one day, even a cure, for fragile x.

We don’t want them to give up on us… we most certainly cannot give up on them either.  We’re not alone.  We are all in this together.  Side by side, step by step.  There is a light – this didn’t end the way we wanted but we can’t close our eyes to the progress that was made and the light that continues to shine.

We are used to climbing mountains; this is just one more on our path.  Our strength has always come from our hope, our belief in those who are working so hard to make life better for our children.  Now, more than ever, we need to hold tight to that hope and do our part to make it happen.  We can’t let the negative overshadow the incredible progress and truths we saw…we can’t.