So, what in the world has been happening for the past eight months?

It has been a long while since I have posted here.  I figured I'd give a little update on things going on in our world.

1)  We transitioned Ayden from his school and teacher he had been with since Kindergarten (and some of his classmates since he was 3!) at the end of the year.  Change is scary.  Really scary.  We also moved from a traditional calendar to a balanced calendar (basically year round) and moved from special education busing to general busing.  It was a BIG change - and all because Ayden was just doing so well in school he no longer qualified for the program he was in.  So, it was all very bittersweet.  We are now a few weeks into school and it is going better than I could have imagined.  Sure, there are kinks to work out.  Adjustments to be made.  We (as usual) have an amazing team though who continues to work us to give Ayden everything he needs to succeed and continue to push him to meet his full potential.

2) I was invited late last year to take a seat on the Board of Directors for the Fragile X Association of Michigan.  It has been interesting learning the ins and outs of how things run versus my idea of how I thought they ran.  The other Board members are great to work with though and I have been extremely happy to sit on the planning committee for our first conference hosted by our group since the International Conference for the NFXF was here.  We are about six weeks away and in the final planning stages.  Dr Marcia Braden is our guest speaker, one of the Fragile X experts for behavior (many would argue she is the best). You can check it out and purchase tickets at http://fxam2015conference.eventzilla.net/  They are only $25 / person and include lunch - super affordable!

3) (Not Fragile X related) I became completely hooked on a product last year, and ended up signing up to sell it.  On top of my many other roles, I now sell Jamberry nail wraps.  I do it mostly for fun, partly for the product/discount, definitely nice to meet more women.  Bonus:  My nails look amazing.  For real.  Check out my Instagram linked to the right to see some examples.   If you are interested in learning more about them or tying a sample, shoot me an email or check out my business page.  You can also request a sample here:  https://goo.gl/calDPf

4)  My most current addition to our life.  I am not our district representative to the county's Parent Advisory Committee for Special Education.  I am extremely excited about this and the potential to change and make the special education process easier for parents.  I remember just feeling alone and lost when we started navigating the whole process of IFSP, IEP, therapies, and services.  It is a lot and often topped with just learning to deal with and manage a diagnosis.  I think a parent last evening said it best "Sometimes parents are just struggling to get dinner on the table each day, giving them an ear to listen and a hand to help guide is more often than not essential for the whole family."  Helping other families has always been my passion when I talk about this 'world'.  It is why I started this blog in the first place, it has guided me every step with new things I take on (right behind doing everything I can for my own kids).

As you can see, my plate is awfully full.  It is all good and necessary things, but it leaves little time for blogging and sharing.  I will try to update more than every six months though.  And for anyone reading this who needs support or resrouces, please email me or comment here or even look me up on Facebook, Twitter, or Instagram.  All the links are on my page and I would be more than happy to help!



 

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Struggling

I'm not a complainer.  I see things that arise in our life as challenges to be solved.  I have a list I check each time we have to look at what to work on, an IEP, a behavior etc.  That list helps me to prioritize, solve the challenges in a way that works best for Ayden and for us.  So for me, every second spent complaining is one less second spent solving a challenge.  And the more time spend solving is less time enjoying life.

I have been struggling the past few months, though.  A  lot.  We are going through so many changes with Ayden that I don't seem to have handle on and keep losing footing.  It started this past summer.  We gradually began noticing changes.  Reverting to old behaviors such as more spinning toys, laying on the floor humming.   Perseveration of speech and even some toys.  Fixation on ideas.  He began asking for toys that he stimmed on when he was younger that he hadn't even seen in years.   Issac started school around the same time, so we were hoping it was just that.  When Ayden started back to school in September it was okay for him at school, but arriving home was...trying.   Almost each night was ending in tears or yelling (by one or both of us).  School was only seeing minor problems, so we just weren't sure what was happening.  We reached out to our doctor and started to try to tweak medications.  We had hoped his growth spurt that occurred directly before we starting noticing these issues was a cause.  The med changes only made it worse.  So we kept tweaking.  We added some sensory breaks.  We put more classroom supports in place. We discussed changing meds.  Then we noticed changes at home for the better so we decided to stick with the current tweak we had made.  Except within a week school was seeing the negative we had been seeing at home.  Hitting, pushing, refusing work, throwing his shoes, obsessive behaviors, loud, disruptive humming in class and OH THE CHEWING.  In the course of a month Ayden went from 85-90% inclusion to me receiving a call saying we had to fix it or we had to explore a different placement for Ayden.   We are talking about a kid who has been at least 50% inclusion in general education since kindergarten.  A kid who thrives on peer interaction.  Removing him completely is not.an.option. and [thankfully] our team is on board with this.

So, we backed off the tweak we thought had worked and went back to what we knew worked at school knowing that it may make home bad again.  Gradually the school days began to look up and then we had an amazing day for him.  I breathed a small sigh of relief.  The negative behaviors we had seen at home that trigger the changes did not come back to the same extent.  It was manageable.  School was getting better.  We would wait out the medication changes to completely take affect and then explore any changes over Christmas break.  Then came Monday - another bad day at school.  Then Tuesday - he hit his friend.   And me, I just felt done.  For the first time I can remember I wanted to throw my arms up and yell "I QUIT!".

I don't know how to fix this for him.  He isn't happy at school anymore.  With his limited vocabulary he can't tell me how to help him.  He can; however, tell me "I had a bad day", "I try harder", "I do better", and "I'm sorry, Mommy."   I'm so thankful I get that, so thankful for each and every word from his mouth.  There was a time when I didn't know if I would ever hear his sweet voice and it is not a memory I will forget.  My heart is breaking though.  We are working, we are not without a plan.  It is many faceted because we don't know the cause for certain (thus it is not typed out here).  I have no doubts we will make this better for him - the only question is how long it will take.  But it is the time leading up to the solution that is the most difficult.  The time where doubt and insecurities creep in and I struggle to keep myself focused and remind myself that the solution is not always easy.  Where I struggle to shrug off the worries and just enjoy life as it comes in spite of the challenges we face.  Where I have to fight not retreat into myself to cope.

I wish I had a nice, happy ending to this post - but for now I do not.  For those of you facing similar struggles on your journey know that you are not alone.  Remember there is always someone out there who will lend an ear - take advantage of it!

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14th Annual Fragile X Conference - Part 1

I arrived back on Sunday from what was the most fun filled, emotional, information packed week I've had in quite some time.   I want to share a lot of the information I learned, but putting it into coherent structures is quite difficult so hopefully this makes a bit of sense!

The conference started off with a medications discussion with Drs Randi Hagerman and Liz Berry-Kravis.  Not much of this session was new to me because I follow most of the medication trends/trials/science and we see Dr Berry-Kravis who is very good at keeping us informed.  One thing that was touched on was the need for better outcome measures for clinical trials.  I think any time medications were discussed this seemed to be drilled into people (for good reason!).  I will be doing an entire post dedicated to the STX209 (arbaclofen) trial results and explain a bit more about what is being done to help produce better outcome measures - it is a lot!

The rest of the first day is a bit of a blur to me.  I helped out on a NFXF video project then went right into facilitating a table at the lunch workshops which just left me emotionally drained.  Discussing feelings is never easy for me, but for something as emotional as that first piece of hope you received after your diagnosis it is even more overwhelming.  It is rather easy to bounce back though when surrounded by people who just "get it".

The things I took away from day 1:

--The Fragile X researchers and doctors are working tirelessly for our families.  They will leave no stone unturned to find a viable therapeutic medication and see it available to all families living with Fragile X Syndrome.
--Never underestimate the power of one-ness of this community.  Even when you feel broken and bared, there is another who has been there or is walking with you.  Just knowing and feeling that surrounding you is the best feeling ever.

I want to share a piece of something a fellow conference goer wrote.  It is perfectly written and fully encompasses the feeling I had while at the conference:

When we come to this conference, we all step out of our lives. Lives where Fragile X is a diagnosis, an abnormality that sets us apart from the norm, shoving us into a contra reality and a position of minority in our communities and even our homes in some cases. Even as scientist and professionals, at home we are facing things that no-one else in our respective fields is dealing with. Yet at this conference, our Fragile X Family, our kin, our kind, our community amass in such numbers that we become the norm. For 5 glorious days we are what's expected; we are the center of the universe. Here is a place and a time where the social norm is to speak too loudly, or too quietly or not at all. Where body language is everything -flapping hands, rocking bodies, ataxia tremors, irregular gates and all. Here no-one thinks twice as a child melts down, or an adult interrupts or says something inappropriately. No-one judges a young lady who breaks into tears when overwhelmed speaking about an emotional topic. In this place and time 1+1 = 3 because no-one gets math. We greet someone enthusiastically in the morning and shy away from the same person in the afternoon because the situation is different. We rule the dance floor, the pool, the elevators, the TV's and any mechanical/ electrical equipment that satisfies our sensory itch. At this conference smiles of acceptance, heads bobbing with understanding, patience, hugs, humor, laughter, love and charm are doled out abundantly and often. Eye contact is not. And this.. this is the norm for 5 glorious days.

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Becoming Mrs. Rogers Blog Tour!

I'm so excited to have a special blog tour on A Day at A Time today in celebration of a book that is sure to become a must-have for any family living with fragile X syndrome.

There are so many people that have held my hand the past 3.5 years as we have braved this fragile X journey, but Cindi is always one that has offered steady, thoughtful guidance to myself and so many others.  Her advice isn't learned in school or read in books but tried and true real-life experience from raising her two boys.

We are so excited to announce that Cindi Rogers first book, Becoming Mrs. Rogers is now available on Amazon.com at the link below.  This book was a labor of love for Cindi, as well as her husband, Chris.  The process has been a wonderful learning experience and going forward will continue to require more learning.

This book is a memoir of sorts about her life (and Chris') in dealing with the birth and subsequent diagnosis of fragile X syndrome for their two boys. The timeline travels from birth to present day and covers lots of different issues like school, behavior, therapies and day-to-day life.  It will take you through some downs and eventually some ups, only to come out with moments of joy and hope.  It was an emotional journey for me while writing it, for Chris while reading it, and we hope for you, too. 

We also hope that you might consider reading it, and/or sharing it (forward this e-mail if you like) with others in your life that might benefit from such a story.

http://tiny.cc/BecomingMrsRogers.com

I received her book last Friday and dove into it immediately.  As I stop and reflected after making it through the first half, I realized that I felt as though I had just spent hours with a friend telling me about her life.  Reminding me that no matter how difficult a problem may seem at the time, there is always HOPE.  

Becoming Mrs. Rogers is the true and heart-felt story of one couple’s journey into acceptance following a devastating genetic diagnosis for both of their sons. Their story, its highs and lows entwined with its wisdom and compassion, has been a beacon of hope for thousands of families struggling with fragile X and other autism spectrum disorders.

Fragile X is a common and inherited cause of learning difficulties, affecting a child's entire world, including social and behavioral problems as well as cognition and speech. Rogers not only tells her story, but also gives advice for new parents, sharing facts about…

* the physical and behavioral characteristics of Fragile X

* the effects of Fragile X on learning, functioning and daily activities

* medication and therapy

* how fragile X affects the family.

Cindi Rogers and her husband, Chris, share the perspectives and tools they embraced in order to help their boys be as happy and independent as they can possibly be. It is a story of challenges, tears, joy and hope.

 **A portion of the proceeds of this book are donated to the Rogers Neighborhood FX Family Fund which in turn offers scholarships to the NFXF International bi-yearly FX Conferences.**

Cindi is the mother of two sons, ages 23 and 25, who are affected with fragile X syndrome and autism. Since receiving this diagnosis, Cindi has become a leader and symbol of hope within the fragile X community.  Her positive attitude, creativity and defining can-do attitude has inspired families and professionals worldwide. Cindi and her family have travelled to conferences around the world to present her innovative strategies, helping families not only to live with fragile X, but to also thrive. It has become her personal mission to share techniques to help families generate ideas that they can implement in their own world, while helping their children with fragile X syndrome to live happier, more independent lives. Today, Cindi serves on the board of directors for Developmental FX in Denver, a non-profit that helps families just like hers learn to thrive in the face of fragile X syndrome. She lives and works with her husband and two sons in Littleton, Colorado, and together they love travelling the U.S. in their RV named Rocket.

Connect with Cindi:

Facebook -  https://m.facebook.com/profile.php?id=1302335567

Twitter -  https://twitter.com/MrsRogers2014

Rogers Neighborhood FX Family Fund--http://www.rogersneighborhoodfxfamilyfund.com

Blog-  http://welcometothefragilexneighborhood.blogspot.com/

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Never underestimate the persistence of a little boy...

You would think in my seven years knowing him I would have learned never to underestimate Ayden by now.  Yet, sometimes I forget and he has to gently remind his Mommy that he can overcome even the milestones that I don't think he's ready for yet.

For this story...let's skip our second.  Issac will be starting school in the fall and for our part we have shied away from night time potty training.  We like our sleep.  A lot.  And dislike washing wet sheets and beds - also a lot.  It was time though, so after Christmas we went cold turkey on night-time pull ups for Issac.  It took about a month, but we made it through without too many emotional scars.  It wasn't long after this Ayden began asking at night "Underwear?  Underwear?".  Despite being fully aware we would have a pee-pee mess in the morning, we allowed it because he asked, you know, with words.  I mean, after waiting so long to hear his voice he pretty much gets what he requests if it is the first time and done with spoken language.  As expected, we did have a clean up job in the morning.  We tried it one more night (again at his request) and the same thing happened so we started a new rule:  stay dry for one night in a diaper and then you can try underwear again.  His persistence has paid off the past few months where putting a pull up on each night has become a fight with tears.  We tried on and off to a dry night here and there but nothing consistent.   Around the beginning of April the before-bed fights escalated into meltdowns and we changed our "rule" to allowing him to try on weekends and as long as he stayed dry he would be allowed to wear underwear the next night.

That was on April 25 - three weeks ago.  He wore underwear on Friday and woke up dry Saturday.  Then Sunday.  Then Monday.  On Tuesday - we had an accident.  I made a split decision that night to let him try one more night and it paid off.  We made it another 5 days dry at night.  Three weeks later we have a total of three accidents since we started.  He isn't fully trained yet, but he will not be returning to pull ups.

I still cannot wrap my head around how big of an accomplishment this one is - and it is ALL Ayden.  We would not have started so soon with him if he hadn't asked.  If HE hadn't been so persistent we would not have continued.  This is without a doubt one of his biggest accomplishments to me and I am so very proud of him.

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Update on the Family Part 2: Emmalina

I was looking back over posts to figure out when my last update on Emma was, and found most of my recent posts had been about STX209.  So we'll start fresh today!

Emma will be two in about 2.5 weeks.  As you know from reading previously, we have had her in early intervention since about 6 weeks old.  She started with just physcial therapy and a general developmental specialist.  At 10 months we added in speech therapy and dropped physical therapy.  Now, at 23 months old we are doing one final evaluation for some sensory issues with an occupational therapist and as long as everything is fine we will be dropping all services.

Needless to say, developmentally, Emma is doing fantastic.  I don't know her exact age ranges for all the different areas but for speech she is around 24-26 months.  Her vocabulary is huge right now and she is making small sentences.  We are having her fine motor checked out with the OT coming, but while that is lagging a little right now I believe this is just due to her language exploding.  She has consistantly been ahead in one area and a little behind in one then will catch up in a month or two.  It almost always worries me, but she always catches right back up.

Our areas that have small concerns are sensory and anxiety.  She very obviously has sensory issues, but I'm not sure how severe they are.  (the reason I am bringing an OT in).  They manifest very differently than Ayden's issues.  He has tactile defensiveness, but also craves deep pressure. Emma does not like deep pressure and often will crave vestibular input (like spinning in circles, rocking in a chair, or hanging upside-down).  She doesn't want these all the time, but you can tell when she is upset she asks for those things.  She has aversions to loud noises like the vacuum and the food processor too.  The other difference between her and Ayden is that she fights and often overcomes any aversions she has.  We had to teach Ayden to calm himself and help himself work through (which he still does not do well) but she understands on some level how to do it.  All these sensory things are tied to anxiety as well.  She presents as very shy, but I can tell it is more anxiety of going up to a person.  For example, we can tell her to go hug someone and she will hang back and act as though she can't walk forward until they put their arms out - then she runs into them.  She doesn't talk much around people she isn't around often either.   All of these things I mention can be typical kid things, but together and because she does have Fragile X I believe they are more.  What I'm not sure of is if she needs any therapy to help with it.

In the coming month we will have an OT evaluation from EarlyOn, then she will have a full evaluation at our 24 month visit to UNC and also her evaluation from the team at USC (two research studies we are involved in from when she was 6 months old).  We also will be getting her FXS test redone with the more sensitive testing to find out her AGG repeats and methylation percentage.  The new test is part of one of the research studies (I will also be re-tested).  For now, it is nothing more than good information - but going forward (into family planning years) it will be good for her to have.  You can look for updates on all of our research studies over the next few months.

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Update on the Family Part 1: Ayden

I've taken a long hiatus from the land of blogging.  I feel like there is not a lot to say most days that isn't a repeat of what has been said already.  I am inching in on three years of blogging here.  Yikes.

I want to start posting more.  Our life and how we live with Fragile X changes so often, and keeping up with that for newly diagnosed families is important to me.  I want to continue to be a springboard into the lives of those that are just hearing Fragile X Syndrome for the first time. Even for those whom are facing other diagnosis dealing with just overall developmental delays.   So today I move forward and attempt to do that, but first let me update you on the family happenings starting with Ayden.

Ayden is now six and a half years old.  I have yet to have a day pass where he does not surprise and amaze me - even moreso lately.  His language took a huge turn for the better over the past month and he is talking up a storm.  Not many sentences yet, but sometimes phrases and other times single words bunched together to get his point across.  This morning while waiting for the bus, Mr Awesome went outside to take the garbage out.  Ayden was watching him and said "Bye-bye Daddy!".  I explained Dad wasn't leaving yet, just taking the garbage out and he said "Leave.  Daddy no-no.  Leave.  Ayden.  Bus."  Not sentences, but he certainly is getting his point across.  I find myself having conversations with him lately where he is giving his opinion MUCH more often.  Mostly though, he is narrating the world around him.  It is beautiful and wonderful to watch him learn that his words have power.  I favorite (though I say favorite for lack of a better term) word to say is "Nope".  He uses this quite often when we tell him to do things.  It makes it much less difficult to tell the difference between him being obstinant and over stimulated.  Sometime I will catch it on video!

Academically he is doing well.  We would always prefer more, but we (his team and family) are all working hard to move him towards his goals.  Reading and writing have progressed the most since school started.  I haven't spoken with his teacher specifically recently but I feel he is close to on-par for his peers right now in reading.  The writing will come eventually.  Math is our problem area and biggest focus.  Somewhere between school ending last year and starting back up he stopped understanding 1:1 correspondence.  This is a key component of math.  (Side note:  for those that don't understand what 1:1 correspondence is - an easy way to explain it is the ability to understand when you have five ducks and wnat to count them that each duck is one duck.)  This has quite obviously set him back a little in math.  I think we have regained that ability, but not enough to start simple addition yet so we are falling behind in math.  Although not unexpected, it is still hard to see him struggle.  

Socially we have also seen many improvements.  Ayden really loves being around his peers and his friends.  Now that he is learning to communicate with words it is just even better.  We had some problems with hitting at the beginning of the school year where he would hit his friends (and/or teachers) if he didn't like what they were doing.  Many incidents where a peer would be done playing with him and he would hit them because he wasn't done.  I think we have moved beyond that (thankfully) especially as he has learned "Nope".  We are more than blessed that he loves his friends so much - it is certainly what is making inclusion in the gen ed classroom work so well for him.

There really is just so much happening with Ayden that it is hard to put it all down.  I do want to add one last thought though.  As his language is emerging more, so is his sense of humor.  We have always seen glimpses of it in the way he goofed around, but now it is amazing!  He can tell you what he is laughing at most of the time and often will just make silly jokes to make US laugh.  After six years, you become accostomed to communicating with your child in a certain way, and then the game changes.  It is just pure joy to see.  I often catch myself watching and listening to him with just tears in my eyes.  He has come so far and we are so very thankful.

And in case you missed it...Ayden was the face of the NFXF Annual fund this year.  VERY awesome to see his face everytime I visit their website.  I love being a part of an organization that is so close to my heart.  http://www.fragilex.org/support-the-nfxf/annual-fund/

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One Year Later - Reflections of STX209

It was a year ago today that we made our first trip to the Fragile X clinic at Rush for the beginning of the arbaclofen trial.  I have such mixed emotions today.  I can't forget the amount of hope I had for those little pills.  I remember how I stared at Ayden each day watching for anything different.  Then I slowly saw my baby emerge from the fog of anxiety he was living in.  One year ago my baby was barely saying fifteen words.  They were never spontaneous.

Today, he greeted me by name.  Told me what cereal he wanted for breakfast.  Asked for a different shirt.  Told me he didn't want to wear his hat to school.  (which at this moment I realize he actually managed to pull off!).  He also gave me a hug and then told me bye before running to get on the bus - where of course he greeted his bus driver.

I of course wonder now if the arbaclofen jump started his language or if it was just coincidence that we started around the same time he had a developmental leap.  My gut tells me it was a little of both, but in the long run it doesn't really matter.  We have been off arbaclofen since June 9.  In late July we started on sertraline and while it isn't as good as arbaclofen it is an acceptable alternative.  He still has a lot of anxiety and it doesn't really help his sensory issues, but that is okay.  For now, it's the best we have.  Had we not seen what arbaclofen could do for him already, I'm sure I would be totally happy with this.  But I have.  So it is hard to be happy with a 'second best' and why I feel like my emotions are so jumbled.  I want it back for him.  It all just feels so unfair still.  Even with his progress and how amazing he is doing - I wonder how much better it would be.

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Fragile X Awareness Day 2013

I've been living with Fragile X my entire life, but only been aware of it for about half of that time.  Even with 16 years of knowledge, I've only been intimately aware of exactly what Fragile X is since March 6, 2011.

Some studies indicate a prevalence of as low as 1 in 150 women are carriers of Fragile X.  It can go undetected for so long, until the day arrives that your young child finally receives an answer for their developmental delays.  Then you wonder how.  And you trace it through your family - grandparents, aunts, uncles, parents, cousins, second cousins... the blow is devastating. The guilt, the grief, the depression, wondering about your child's future...  You deal with newness of this diagnosis you've never heard of and at the same time are burdened with telling your family that they may be affected as well.  Maybe it is a pregnant sister, maybe a father who is struggling with Parkinson's type symptoms, a nephew with autism, a cousin with fertility issues, or a brother about to wed.   These things leave scars, the ones that don't heal or get better but just scab over only to have the wound reopened again when you least expect it.

We raise awareness for all of you today - the undected, yet unknown carriers.   My father, my sisters, my grandmother, my uncles, cousins, my cousin's children - those who are already living with this diagnosis.  For you, for your loved ones, and certainly for my babies.

We'd be honored if you would take the time to share this post with your family and friends today.  Please help us educate just one more person about Fragile X Syndrome this awareness day.

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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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National Fragile X Awareness Month

July marks the beginning of National Fragile X Awareness Month.  Each year on my blog I've attempted to do something to raise awareness during the month on this blog.  This year, I've realized that I haven't come up with anything special and part of that is because I've been raising awareness a lot the past few months from Advocacy Day and writing letters to members of congress to helping found the STX209stories website.  It has been a good few months for raising awareness about Fragile X Syndrome!

In addition to all this, we are hosting the first mid-Michigan Fragile X Fundraiser right here in Holt this month!    I was able to secure a corproate sponsor through the help of a friend of ours as well as put together the event.  It isn't going to be huge, but we certainly are raising some money and definitely some awareness for Fragile X!  Checkout our event page here:  A Day At The Park

So..to kick off Fragile X Awareness Month and our fundraiser event month - here is a preview of the back of the t-shirts!  The t-shirts themselves will be kelly green.

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Closing this Chapter

We sent it all back today.  Six boxes, three still unused.  Two dosing diarys and a two page explanation of what we saw over the past two weeks including behavior charts.

Fed Ex came and picked up the package.  Ayden told me no as I handed the box he had watched me pack up to the delivery person.  He then had a full blown meltdown after he left.  All I could do was hold him and cry with him.  Once he recovered he planted himself at the front window and has been staring out it since then.

We may be closing the chapter on this trial, but will we keep moving forward .  One step at a time, one day at a time.

The story below is one that Ayden received as a gift when he finished pre-school, I find it rather fitting.

I knew you could!  And you knew it, too --
That you'd come out on top after all you've been through.
And from here you'll go farther and see brand-new sights.
You'll face brand-new hills that rise to new heights.

I wish I could show you the stops that you'll visit,
But that isn't my choice to make for you, is it?
Instead, I can tell you some lessons and tales
That I've learned and relearned in my time on the rails.

First of all, you must find your own track,
So you can start right away and not be held back.
But which track is yours? Well that just depends
On which way it's going and where it might end.

Different tracks wind around,
over, under, and through,
So pick out the one
that works best for you.
Though the trackyou start out on
will feel like "the one,"
You might take a few more before you are done.
An now, with your eyes on your new destination,
Start up your wheels and roll out of the station.

On your new trip you'll make plenty of stops,
In deep river valleys and on high moutaintops.
Some will surprise you and some will be planned,
And you'll roll through each one saying, "I think I can!"

You'll go through tunnels, surrounded by dark.
An you'll wish for a light or even a spark.
You might get scared or a little bit sad,
Wondering if maybe your track has gone bad.

So here's some advice to help ease your doubt:
The track you took in must also go out.
So steady yourself and just keep on going --
Before you know it, some light will be showing.
And then you'll be out, heading to a new place.
You'll be ready for the next tunnel you face.

Sometimes you'll look up and see planes in the sky,
And you'll think to yourself, "I wish I could fly."
The cars on the roads will seem quick and free --
You'll feel stuck on your track and think "I wish that was me"

But the plane might wish he could get out of the air,
Saying, "I wish I could travel like that train down there."
The cars will watch as you speed right along.
And they'll look at each other,
"Look how fast and how strong!"
Don't worry about not being a car or plane,
Just enjoy the trip you'll take as a train.

Don't be afraid to too your own horn,
If you need to be heard or there are people to warn.
Or if being yourself makes you so proud,
That you want to share it and sing it out loud.

You'll follow your track
through twists and through bends,
And stop at new stops and pick up new friends.
They'll all come aboard with smiles and greetings.
You'll have such great times
with the people you're meeting.

On the days when you're sad and feel you can't go.
Speak up and ask a friend for a tow.
That's what friends do, so don't be afraid.
You'd do the same if your friend needed aid.

You might stop at stops that you never have toured,
And look for new friends, but they won't come aboard.
So you'll have to head out with a creak and a groan,
Setting out once again on your track, all alone.

Try to remember the world is so wide,
Full of all kinds of people with their own trains to ride.
Just stay true to yourself as you travel your track,
With no second guessing and no looking back.

Once you're on the right track, you'll probably say,
"This one is mine -- I'm here to stay."
Try to enjoy the track that you choose --
Stop now and then to take in the views.

If you rush forward as a general rule,
Before you arrive, you could run out of fuel.
Don't overwork, but save up some strength.
That way, everyday, you can travel great lengths.

You'll need all that strength on the days when you're stuck,
Or tired, or sad, or just out of luck.
When your belief in yourself doesn't feel quite so pure.
And your "I think I can" doesn't sound quite so sure.

That's when ot push and to strive and to strain.
To show the world you're not a giving up train.
And you're wise if you know that doing your best
Means that sometimes you should just slow down and rest.

Speeding through your whole trip will bring only sorrow.
So slow down today and be happy tomorrow.

There's more about life that you'll learn as you go,
Because figuring things out on your own helps you grow.
Just trust in yourself, and you'll climb up every hill.
Say "I think I can!" and you know what?
You will!
-- I Knew You Could, Written by Craig Dorfman

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We're Done

Today I gave Ayden his last dose of STX209.

I've held my head high though all this.  I've done everything I can, extended every favor I had.  And today, it feels like none of it matters.

We will weather this storm.

We will find something elese that works.

I will continue to fight.

But today, today I cry.  I cry for the hope that we had with this medication.  I cry for the look on Ayden's face as he tells me he doesn't want the new medication.  I cry because I can't explain why so he could understand.  I cry because he deserves more.

I cry because no matter how hard I have tried.... for now, it wasn't enough.

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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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Why This All Matters

There are those moments in life where it feels like a band aid has been ripped away and an open wound left exposed.  Those moments make me stop and wonder how I couldn't have realized what was under that band aid in the first place.  The ending of the STX209 trial was exactly like that for me in many ways.

I work tirelessly to be sure that my children have the best lives they can.  For Ayden, that work is just...more.  Our goal for him has always been to give him the happiest, loving, most independant life he is capable of.  I don't know what that entails, but I do know that I will move mountains to see that it happens.  STX209 was a step in that direction.  It helped him to function better with the high amounts of anxiety he has every day.  I believe that lessening his anxiety was what was primarily responsible for almost every other development we saw.  It just made it so much easier for him.  It should be fairly clear why it being ripped away in the fashion it was has been such an emotional roller coaster.  It left me feeling vulnerable and exposed - I highly dislike both of these feelings.  The only logical step was to take action, and thankfully a group from my X-family felt the same way - thus was born STX209 Stories.

In the midst of this, I did something I now realize should have been done sooner.  I looked into the FDA approval process for medications.  As with most government programs, it's a mess to navigate.  There aren't really any clear processes that aren't just broad blanket statements meant for basic understanding.  In the process of all this I came to this conclusion.

The FDA process is not setup to accomodate a drug that would target a core cause of a spectrum disorder.

Let me explain this more.  A spectrum disorder is a term most people are familiar with but maybe don't understand exactly.  Let's take autism for example.  Say you have twin boys and both are diagnosed with autism.  Each boy can be affected very differently.

 Boy A may be non-verbal, have a difficult time playing with toys correctly, and crave sensory input in the form of being hung upside down or spinning in circles.  

Boy B may have no problems speaking, but is unable to function socially and shies away from eye contact, peers, and any loving gestures.  Boy B also has stim behaviors like flapping and humming and can also been found rocking in a dark place quite often.

These boys both have autism, yet it is presented very differently.  Thus why it is called a "spectrum" disorder.      You may have mild issues on that spectrum, or more severe such as you usually see displayed in the entertainment industry.

Let us take the same twins from above ...

When introduced to a drug like STX209, these boys will both react differently.  You aren't attempting to help their specific symptoms of autism, you are helping the core of it to correct symptoms.  As such, Boy A may stop craving sensory input and begin speaking more while Boy B may stop using stim behaviors as much and begin to interact socially.

Is this medication then helping the twins?  Absolutely.  Anyone that interacts with them can see it certainly is helping them.  However, if they were enrolled in the drug trial  for STX209 that just failed on it's primary endpoint it would not show this.  The primary endpoint the FDA looks for in drug trials says that ONE thing will be improved and that one thing will determine the success or failure of the trial.   Other secondary endpoints may show the improvements that the twins are experiencing showing up in the data, but because that primary endpoint does not it is considered a failed trial.

THIS scenario that I just played out is why Roche pulled their funding from STX209.  They believe now that their own formula will be more successful in meeting a primary endpoint for FDA approval.  I disagree.  Their formula (now in Phase II clinical trials) is built on the same science and research as STX209.  It is also a NEW drug meaning long term use and affects are not known.  STX209 is farther in trials, shown to be working, and becaues it is a reformulated version of an already FDA approved drug we do know the long term affects.  Baclofen has been around since the 1920s I beleive.

And this is why I believe this group of other parents and myself are doing something important.  I believe all other medications that uses this same science will eventually hit the EXACT SAME roadblocks as STX209.    I also believe with the right backing we can get the FDA to approve a medication like this - it will be groundbreaking when it happens - but it will be a long road. A long road made much much longer by choosing to push a drug that isn't as far along in the process already as STX209.

So I'm asking.  I'm begging.  SIGN THIS LETTER.

http://stx209stories.com/an-open-letter-regarding-stx209-to-dr-severin-schwan-roche-pharmaceuticals/

Did you click that link?  Did you sign it?

http://stx209stories.com/an-open-letter-regarding-stx209-to-dr-severin-schwan-roche-pharmaceuticals/

What?  You still haven't signed it?  Look what you did.....



Sign the letter.  Please.  Be a part of the change for Ayden, Emmalina, and every other individual living with fragile x syndrome or autism as well as those many, many more who have yet to be diagnosed.

Here's that link again (in case you missed it)

http://stx209stories.com/an-open-letter-regarding-stx209-to-dr-severin-schwan-roche-pharmaceuticals/

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For almost two weeks now I have been part of a group of women helping to share stories of others that have benefited from STX209 as Ayden has.  This group of amazing, dedicated women has worked tirelessly to share each of these stories.  Stories of how their lives were changed, how their child's life was made so much easier.   We have shared to help bring these stories of hope to the eyes and ears of those who can help us the best.   We have asked, begged, and pleaded for you to do the same.  Together we have reached 37,000 people.

We haven't been doing this for profit, or fun, we have been doing it to arrive here.  Today.  To a point where we can ask each and every one of them for their help.

Please let all of these families, and especially Roche know that you support STX209.  That it IS providing a real difference in patients unlike Luca Santerelli at Roche stated in a recent interview with the New York Times.

Please stand with us. With Ayden. Know that we (together) are making a better future for him, for Emma, and for any other child affected by Fragile X or Autism.   Read the letter in the link below, sign it, then share it far and wide.  I challenge each and every person to share this with at least FIVE friends today.  TOGETHER is the only way we can accomplish change.

Thank you.

An Open Letter Regarding STX209 to Dr. Severin Schwan, Roche Pharmaceuticals

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The Good and Not-So-Good

I have tons to share, but today just want to do a brief update.  We just returned home from a wedding that all three of the kids were in (for their aunt) and I didn't get to post a couple things I want to be sure get some attention.

Friday, something big happened.  REALLY BIG.

New York Times BIG.

http://www.nytimes.com/2013/06/07/business/an-experimental-drugs-bitter-end.html?pagewanted=all&_r=1&

I was interviewed a few weeks ago by a reporter for the New York Times about the end of the arbaclofen (STX209) trial.  The article has a few of my quotes in it along with a couple other fragile x parents.  I bought two copies.  I'm elated  that fragile x syndrome made an appearance on the front of the business page of the NYT.  E-L-A-T-E-D.

Then today, something big in it's own right happened.

Big, but not unexpected.

Big, but not good.

Titration began today.  Our last day with arbaclofen will be June 23.

I'm sure you'll have much to read about over the next two weeks, because I certainly will have much to say.   Normally I hold the worst back from here, because it is difficult to write.   It somehow seems more real to me in ink.  It needs to be documented this time, though.  I want others to see how this drug is helping but more importantly how taking it away is hurting.  

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Fragile X and Autism Families for STX209

Been working on something....

I've been working with an amazing group of women, other fragile x parents.  We're hoping it will be big.  We need it to be big.

You can help by reading our stories on Facebook.  Liking them.  SHARING them.  Each person that shares  one of our children's stories radiates those stories to their entire group of friends.  Who in turn share.  Which makes our prescence much bigger.  So please, won't you help?

Visit this facebook page:  http://goo.gl/RAUGj

(Did you click that link?  What are you waiting for? ....)

(No, really, click it.)

.......

.......

.......

That wasn't difficult, was it?  See all those adorable faces?  Remember them as you continue on.

Like us.

Read the "about" section to see exactly what we're all about.

Read the links in our media section and see the coverage of how this drug is helping.

Read our stories.  Children, families, changed forever.

Then share with your friends, family, and whomever else you can.

PLEASE help us.  We need to make an impact.  For Ayden and for the many other children affected by this.  This sets us back YEARS in getting a theraputic intervention for fragile x syndrome AND autism.

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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.

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The Saga Continues

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....

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