Post STX209 Update

I've sat down to write this update so many times and then walked away, unable to put words down.  We are living day to day and taking each hurdle as it comes - looking at the big picture of changes is really difficult for me still.  All my time and energy have been thrown into readjusting to what has become our new normal.

We began weaning off arbaclofen and started adding racemic baclofen on June 9.  We have been off arbaclofen since June 23 and on our current dose of baclofen since June 16.  Current medication is 10mg of baclofen 3x per day.

We have seen good and bad with this change.  The best part is we have not seen much regression of language.  Ayden has actually added more words to his vocabulary in the past six weeks.  The regression is seen in how often and when he is speaking.  It's very difficult for him to initiate conversations or even simple requests now.  He has a difficult time walking into another room to say hi to someone even.  He's still able to isolate most of his sounds, when we can get him to sit still at least.

Which brings me to one of the biggest changes....focus.  Sitting still.  He quite literally cannot stop moving himself or something he is manipulating.  Sitting down to read and/or work on writing has become near impossible.  We were around 15-20 minutes right at the beginning of the summer and have now regressed to around 3-5 minutes.  It has made things very challeninging for me.  If I'm not occupying his time with productive things every single minute of the day he is stimming in some way or another.

Stimming has alos gotten much worse.  Most of Ayden's day consists of him attempting to stim in some fashion.  Spinning toys is the most prevalent of those, which is not surprising as he did it so much before.  I find it interesting with the stimming that it is actually worse than it was pre-arbaclofen.   I think this is mostly due to the fact that Ayden is older now and he's learning how to deal with these urges and anxiety he hasn't had to in months.  It's a lot to cope with, and I see this as his way of handling it.

Onto the anxiety...oh the anxiety.   It's prevalent in everything he does, everything we do.  It's taking a lot more prompting and a lot less doing 'things'.  Probably the most heartbreaking for me was to see how anxious he was when we went to the splash pad last weekend.  We made sure to go at a time that wasn't too busy, and that did seem to help.  He just couldn't run through it like he previously did.  He played with some of the things on the edges, but for the most part hung back and just watched the other kids playing.  Seeing him wanting to go do something he loves and just not being able to get his body to cooperate rips my heart in two.

We have watched fairly carefully over the past month or two and thankfully have seen a leveling out of these behaviors.  That is, they are not getting better or worse.  With this all of what we have been seeing, we decided to stop the baclofen. We don't believe it is helping him and if it is - the amount is much too small.  We've been working closely with our clinic doctor and decided to try treating his anxiety and focus for now.  Our goal is to have his medication stabilized for when school begins.  Our hope is by focusing on those two issues, we will see improvements in other areas as well.

On Monday we began the process of weaning off racemic baclofen.  The past few days were pretty horrible - it was much as I expected.  Night waking, higher anxiety, more meltdowns, totaly disregulation... the poor kid is a mess.  We will more than likely add his new medication starting next Monday when we drop his baclofen dose to 1x per day.  This is going to put us on track for around 1 month on his new medication before school begins.

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Titration Week 1

Day 9

I don't want to write about this.

I don't want to think about it.

Yet I feel I need to.

Full disclosure though:  It's not as bad as I thought it would be.

It isn't good though either.

Ayden was on 20mg of the study drug, taken in two doses of 10mg each.  On June 9 we began titration and he dropped to 10mg of the study drug taken in 5mg doses twice a day.  At that time, we also added in 20mg of baclofen taken in 10mg doses twice per day.

Day 1 was really bad.  We had our first major meltdown in the morning around one hour post-dosing.   Followed by bathroom accidents, frustration, more meltdowns, and a very sleepy boy.  It was not anything unexpected, but pretty hard to take in. (Jump over to http://stx209stories.com/stx209/ayden-abouelseoud-holt-mi-update-1/ to read the full story)

Day 2 followed much of the same pattern.  He woke up extremely hyper, but more of a borderline sensory overload.  It was his last full day of school, and school noted this was the case as well.  He had a small meltdown in the morning, around one hour post dosing just as the previous day, but by the afternoon was a mess.  This is a small portion of the email from his teacher:

The refusals/meltdowns then started after special.  They lasted the rest of the day.  He went from crying, to throwing the materials, to hitting.  He just seemed overwhelmed.  He was very oral, chewing on everything.  I did have to set a timer and have him sit at the table a couple of times because he continued to hit/push and really needed a break.

I could share each day, but it is much of the same.  We're seeing a pattern of a small, 20-40 minute morning meltdown that happen around one hour post dosing.  We are then seeing a meltdown in the afternoon, also around an hour post-dosing that lasts on average 2-3 hours.  Lots of stim behaviors returning and anxiety.  He's fighting it, but it is there.  This is from day 3, and just a short clip of our entire afternoon.  It's difficult to see him like this.



The most heartbreaking thing for me to watch is honestly how much more difficult it is for him to communicate right now.  He wants to - I can SEE him trying.  He just physically cannot do it.  And then he becomes frustrated, so frustrated in fact that he can't even revert to showing me instead of using his words.  I don't think his language is disappearing even though we are hearing it less.

The good thing is that his humor that has emerged over the past few months is not going away.  He's still trying to eat our brains and scare us with yelling "BOO".  I don't think it is as often, but he's filling a lot more of his time with stimming, and escaping to a quiet place (his iPad, movies, and the pool).

As I said, it isn't as bad as I thought.  I think the baclofen is making a difference.  I've been in contact with Ayden's doctor and we've made some slight changes already so I'm hoping those will help even more.  I think she has a good idea for next steps for us as well.   We're just in a waiting period now.   Saturday is our last day of arbaclofen.  A week from today I will be mailing back 3.5 boxes of medication.  We'll have a few weeks after that to see where he levels out at (it took about 3 weeks on arbaclofen from dosing changes) and then we'll go from there.

Look for more updates as we progress.

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After-thoughts

It's been a few days now since the 'termination heard round the fx world', and while the unknown of where Ayden will stand once we start weaning him from arbaclofen is still haunting me I at least feel like I have a path, a purpose in all this.

We still have not received our exact date to start weaning.  I know we will hear soon, and am hoping we are able to push that date out to at the very earliest after my sister in laws wedding but hopefully we can push it to when school lets out.  You may remember our titration in the blind portion of the study...[ Do I really have to do this again?!  ]  It was, unpleasant to say the least.  

I have no expectations that this extension will be saved before we have to wean from arbaclofen.  Myself and many, many others in the fragile x community are doing everything we can to try not to let that happen, but realistically I'm preparing  for not seeing our miracle.  You can rest assured that regardless, I will not give up hope or stop working tirelessly writing letters, contacting the media, or raising awareness ANYWHERE else.  We may have to say goodbye to this drug for a short time, but whatever it takes to get it on the market and/or back into our hands is what I will do.

We briefly spoke with our study coordinator and have decided that when we do begin weaning we will start on racemic baclofen as well.  This drug is already FDA approved and been on the market for quite some time.  It contains both arbaclofen and esbaclofen (so, essentially a less potent arbaclofen then what Ayden is currently on) and we are hoping that this will still work for Ayden, at least a little bit.   Some of the families I know who have had arbaclofen working for them have not had any success with baclofen.  I guess we will see.   The plan is to start the baclofen during titration to hopefully minimize the affects of weaning.  After that...well, we'll go from there.  We have a couple paths we can try, although none are as promising for us as arbaclofen was.  I've researched each of them, but we won't begin to make that decision until we see how or if the baclofen works.

Again, on a more personal note.  I'm still utterly devastated over this.  I really want to believe that whatever happens is for a reason.  (as cliche as that sounds)  I'm just having a difficult time.   It's hard to watch Ayden being just so chatty and funny and to think that part of him may be shut off.   Every fiber of my being is hoping and praying that these changes will be lasting, I'm just so so so afraid they won't be, that we will see regression.  That he will stop calling my name when he needs me, or pretending to be a zombie saying "BRRRAAIIINS" and then eat my brains and go "NOMNOMNOMNOMNOM".  That he will stop enjoying coloring or playing Mario Kart.  Even today, he started saying something new ("Oh, no!") and said "no, mommy!" when he didn't want me to do something.  These small moments that show his sense of humor or how much he loves us are times I hold so close to my heart.  It aches to think I may not see them as much, or at all.

Thank you so much to our family and friends for the love and support you have shown us this week.  It's still not easy for me to talk about this in person, and I appreciate the quick texts or notes to let me know we are not alone in this.  You've done your part as much as we're doing ours here on the front lines, and it IS appreciated.  We WILL make it through this, our family is strong and we've been through much more trying times.  We will find something that works for Ayden, even if it does come with heartache along the way.  Above all, Ayden is a strong, resilient little boy and HE will continue to rise above every expectation we have for him as he always has done (even before arbaclofen).

Please be sure to check out "An Open Letter to the FX Community" from the NFXF and pay close attention to the FAQ section.  The NFXF has put together an amazing informational page to make sure factual, accurate information is available to families.  

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