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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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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Feeling Frustrated

It isn't often I put down frustrations on here - but I'm feeling a bit overwhelmed with them right now.  Back in the update for Emmalina, I posted about how we were having an OT out to evaluate her sensory issues.  I sat with the OT who basically did a sensory evaluation by asking me questions and very little observation (NO interaction) with Emma.  At the end, she told me Emma is a sensory seeker but seemed to be self-regulating so her issue were not affecting her everyday life.  She did not recommend any therapy to help.  It was mostly what I expected to hear so didn't think much farther on the issue and began the process of attempting to remove her from EarlyOn.

A few weeks later, Mr Awesome and I were discussing removing Emma's pacifier.  She's pretty attached to it, but not in a normal kid kind of way.  I feel like it is oral sensory for her which concerned me to just cold-turkey pull it without a replacement.  We did that with Ayden before we understood and even to this day have problems with him chewing on his clothes, hands, blankets etc.  It took almost two years to successfully direct him to a chewy tube and even now we have to remind him.  I do not want this to happen with Emma, thus the email to the amazing FX SLP/OT duo Mouse and Tracy.  I explained about sensory issues, her OT eval and what I was told then what we wanted to do.  Surprisingly to me, their response was essentially that the OT that evaluated Emma had been incorrect.  That a two year old cannot self regulate (even typically developing) and that pulling Emma's binky without a sensory diet in place to "replace" that oral sensory seeking would be exactly what we had happen with Ayden.

Thus my frustration.  I trust Mouse and Tracy without a doubt and they certainly helped as much as they could over email. So our options are then to push EarlyOn to provide OT for Emma or to do it ourselves.  We looked into private OT with Ayden and it just is not an option for us.  Lack of providers in this area, high prices, and no insurance coverage.  Even if we could combat that - there is an 8-9 month wait to even be evaluated.  The OT that evaluated Emma is the only one in our country for EarlyOn which means if I push service I will have an OT who doesn't think she actually needs it and will undoubtably not be very helpful.  

I decided that maybe it would be smart to get Emma an appointment at the FX clinic.  I was hoping that we could piggy-back her onto Ayden's upcoming appointment in May since we go to Chicago - but upon contacting them they just can't fit both in.  Our earliest date for her to be seen is in August.  This was not unexpected nor am I mad at the clinic (they are amazing), but is still just another thing.

Through all of this, we are also running into problems getting Emma OUT of EarlyOn.  They aren't helping us at all, so no need to be in it.  Yet they keep making excuses when I try to take her out.  We should finally have all the needed information soon and then hopefully that will be the end of it.

So, we are left with figuring it out ourselves.  It isn't all bad, but it is going to be trial and error and we will undoubtably make mistakes along the way.  My consolation in all this is that the sensory issues aren't that bad.  They aren't affecting her life much right now, and maybe won't ever.  I'm just so frustrated with the way this is working out.

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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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When do you make that call?

"Do you think we should call early intervention?"

I'm asked this question a great deal and I'm very happy to discuss it with anyone.  One of the biggest reasons for me starting this blog was to help other parents.  To give other families help and hope - things I didn't have when we first began our journey.

See, as a parent I've been in your shoes.  I've been left wondering why my child isn't doing things others his age are doing.  I've posed the question to his pediatrician and (like many of you) were told "Don't worry, all children develop a little differently.  He'll catch up.  It's normal"

I can see you shaking your head and agreeing with me right now.  You've definitely heard some form of this answer.  This is the answer that puts your fears at ease, at least most of them.  If you are looking for assurance, this is the answer you want to hear from me - but it is also the one I will never utter to another parent.  Llike you I've wanted that assurance that my child was "okay".  I wanted to feel better.  I wanted my fear to be wrong.  I craved reassurance that my gut was wrong.  It was easier for me to not know for sure because there was still a chance it would be okay.  I was told over and over again that it would be, and it helped for a bit.  I want you to go back and read that paragraph again though.  Notice each reason is something that makes you feel better as a parent.  I want this.  Easier for me.

The harsh reality of this is that not all children "catch up".  That each day you are sitting delaying making a call  because of how it makes you feel is another day your child is missing out on help they may need.  Maybe they will catch up, but maybe they are in the small group of children that don't.  The call is free, the evaluation is free, the services are free.  Over and over research has shown that early intervention leads to better outcomes.  There is quite literally nothing to lose by calling and finding out.  Knowledge is power, friends.

I know someone is reading this now and saying "No, you are wrong.".  You aren't ready to face the reality of knowing for sure.  I know, I've been you.  I've raised both of my boys wondering at each and every milestone whether or not they were typically developing.  I lived in fear at each milestone.  I distanced myself from other parents with children the same age and when I did end up around them I studied them looking for things they were doing better to assure myself again.  Then, when Emmalina came along we chose to do it the easy way.  She was enrolled in early intervention at just six weeks old.  I had assurance at each step of the way exactly where she was developmentally.  Not just a 15 minute well baby visit, but with developmental specialists who could answer my questions, dispell my fears, and give me things to work on should any of those milestones fall short.  I knew that she would be getting help right as she needed it.   It gave me the freedom to enjoy it a little more and stress much less.  I look back now and wish I could have done it this way with the boys.  While I try not to dwell on this, the question will always be there for me:  "How much different would it have been if I had made that call earlier for Ayden?"

So if you are a parent reading this who is asking that question, please don't wait.  If you are asking it then something is triggering that thought.  Trust your instincts, face your fears, and dare to be wrong.

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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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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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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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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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1st Grade IEP!

I'm sincerely blown away that we will have a first grader soon.  Seems like just yesterday we were bringing Ayden home from the hospital!!  We had our annual IEP yesterday, and this kid continues to blow me away.        I won't bore you with the details, but just a few highlights.

1)  Ayden will have increased time in general education (inclusion) next year.  He will essentially have only about one hour per day of 1:1 teacher time in the ASD room.  He will be in normal inclusion for everything his peers do with para support.  His speech and occupational therapy will be 1/2 pull out and 1/2 pull in where the therapists are in the gen ed room with him.  We also found out his teacher for next year.

2)  Ayden will be taking all grade-level assessments with his peers next year with slight modifications as he cannot write or speak.  While this was not written into his IEP for kindergarten, the school decided to do it anyway. We have an understanding with this team that at all possible times we want Ayden to be treated the same as typical peers - so this was one thing they added over the course of the year.

3) I posted on facebook how this was my fourth IEP but the first one I had not stressed or worried about.  I wholeheartedly credit this to his team.  They have been amazing about follow-through, communication, and pushing Ayden all the time.  Each person is invested in him as an individual and not just "one of many" of their students.  I believe our successes we've seen this year are partially due to them, partially to us, partially to Ayden, and partially to the addition of arbaclofen (stx 209) in October.   I can't look at this past year and not give credit to each of those things as they all played an equally important role.  I need to point all that out before I come to my final point...

4)  With all the success and development we've seen this year, plus the addition of normal kindergarten assessments we can truly get a picture of where Ayden is at.  We received the scores for all his assessments at the IEP.  They were...amazing.  In all areas of testing Ayden scored at or above what his typical peers do. Outside the fact he cannot write - Ayden will be entering first grade on par with his peers academically.

What a beautiful highlight to end our year on.

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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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STX 209 - An (almost final) Update

I've often heard fragile x described as having the sound of a vacuum in your head.  Consider going through life daily with that sound.  Attempting to speak.  To walk into large rooms full of people.  Imagine how difficult it would be and how easily you could become frustrated.  Imagine then that there was something you could do to shut that noise off.  That is how I look at arbaclofen - as an off switch for that constant noise in Ayden's head.  Now we have to turn that switch back on.  Devastated does not even begin to describe the emotions running through me.  Terrified.  Worried,  Overwhelmed.  Sadness.  And tears...lots of tears.

"We regret to inform you that Study 209FX303 [An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of STX209 (arbaclofen) in subjects with Fragile X Syndrome] is being terminated immediately.  The closure of the study is due to resource limitations at Seaside Theraputics, Inc., and is not related to any known safety issues in patients dosed with STX209."

You have seen our journey here.  From barely speaking, struggling socially, anxiety issues, and lack of self awareness to a little boy who was making friends, playing with those friends, playing with toys correctly, jumping into new situations with ease, going into loud places, laughing, talking.  TALKING.   What a difference six months and a little strawberry pill can make.

We were told the open label would be available until FDA approval (or lack thereof).  We were told 4-6 months notice if they were to ever stop the open label.  Things don't always go the way we expect though, and as of May 31 given just two weeks of notice, we have to begin the heartbreaking process of weaning Ayden from arbaclofen.

I took the night last night to sleep and hopefully feel better today.  I don't.  It's not fair.  The fact that this comes down to funding is just too much.   I'm hoping beyond anything else that we don't see regression.  That somehow this drug has made lasting connections that will continue.  That the drug only supplemented and helped what was already happening with Ayden developmentally.  I don't want to lose him into himself.  I just can't.  I won't.  We WILL find something.  We will do whatever we can to help him.  We always have and will continue to do so.  

We have other options for him.  We do know he needs something to help him with anxiety and focus.  We were at that point when we started the STX209 trial.  It was a good fit for us, we didn't have to wean off anything to start the trial because he wasn't on anything.   We knew this could happen.  It doesn't make this easier.

For now, I need to purge these raw, negative emotions.  Then, then I will look to tomorrow.

“You do not need to know precisely what is happening, or exactly where it is all going. What you need is to recognize the possibilities and challenges offered by the present moment, and to embrace them with courage, faith and hope.”  - Thomas Merton


Some other parent's blogs that were involved in the 209 trial are sharing their thoughts as well.  You may click on each person to read their thoughts.  I'll update as I see more.

Holly
Melissa
Kristin
Rachelle
Bonnie
Kristie

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A Day at the Park: A Fragile X Awareness Day Event & Fundraiser

I'm very excited to announce the first Mid-Michigan Fragile X Awareness Day Event:  A Day at the Park! Please mark your calendars for SUNDAY, JULY 21, 2013 at VALHALLA PARK in HOLT, MI.

A Day at the Park is going to be an awareness and fundraising event.  We plan on spreading the word about Fragile X around the community through a variety of events in the park that day - just in time for National Fragile X Awareness Day on July 22.  The park itself has a beach for swimming as well as fishing areas on the lake and pond, a nature trail, softball diamonds, and playground (both for older kids and toddlers).  It is also semi-wooded and has a beautiful picnic area.

There will be no cost to join us, but we will be selling FX Awareness Day T-Shirts ahead of time that will include a FX green t-shirt (designed by Mr Awesome) as well as one raffle ticket and refreshments/snacks for those who wear their t-shirt that day.   We will have multiple ways to donate during the event including a bake sale, raffle, and more that we are still finalizing details on.  We also have Ride and Sing with SonicBOOM joining us as well offering motorcycle rides for Fragile X!!   I do not have more details than this on anything right now that I can share, but I should hopefully have that information as well as how to purchase t-shirts available by the end of this month, so stay tuned in!

All proceeds from the event will go to Fragile X - either the Fragile X Association of Michigan and/or the National Fragile X Foundation (I'm still looking into the specifics).

In the meantime, if you have something you would like to donate to the bake sale or raffle, please contact me via email, facebook, or phone.  There are multiple ways to contact me at the top of this blog too.

Hope to see you there!!

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I Wish I was in Italy*

I feel like Fragile X has peeled off my rose colored glasses on the world.  I long for the innocence I once had  where I believed all children developed normally.  You don't think about it much when you have children, really.  Kids just learn, they are naturally curious and beautiful little sponges that soak up every little thing they hear and see.  They want to learn.  Crave that input for their tiny little minds.

I wish I could just sit back and enjoy it again.  I watch Emma play and wonder when she doesn't touch a certain toy if it is because she doesn't like it or because of the texture.  I watch her put a piece of banana in her mouth and take it back out immediately after making a face and wonder if it is sensory related or she just doesn't like the taste.  I watch her get frustrated when she wants something that she could climb and get off the couch - but she doesn't even try to climb; she merely gets frustrated and begins to cry.  I remember Ayden doing the same thing and I wonder if her spacial relations are also affected.  I love seeing the smile on her face as I count to three and she throws herself backwards to hang upside-down in my arms, but I can't escape the fact that she does it when she is upset and overstimulated -- that it appears she is craving vestibular input.

It isn't just my kids anymore.  I'm the one that friends ask about their own kids.  "Should we be worried?"  I don't think people really want to hear my answer -- they want me to tell them their child is fine.  That the delays Ayden has aren't anything they need to worry about.  I know because my answer is always the same, as is their response to it.  If you are wondering whether to worry, you should call Early Intervention for an evaluation.    I know other special needs parents will not be surprised by what comes next.  A dismissal of my recommendation.  A look of pity.  A courteous smile.  I never push, it isn't my place after all.   If there is one thing I've learned it is that a parent has to be ready to face the possibility of a problem before they will take action.

I do not enjoy being that friend.  I don't want to be the person who looks at children playing and sees possible delays. I don't want any of it.  I want the sweet innocence of a first time mom back.  I want to spin with my kids until we are so dizzy we fall to the ground giggling.  I want to run barefoot in the grass.  I want to play in the rain until all of use are covered in mud.  I want to go to the movies, to a baseball game, to the circus.  I want to go to a birthday party and not worry about my child screaming when the other kids sing "Happy Birthday".  I want to do all that without preparing, without having to wonder how long we will make it before we will inevitably have to leave ahead of schedule, without having to ignore rude stares, strange looks.

But then....

I remember that I don't need any of that.

Because I have him.

And them.

And them.

I really couldn't have imagined or asked for more, because Holland is pretty amazing* and I wouldn't leave for anything.

*The title of this post and last sentence are in reference to one of my favorite pieces of writing titled "Welcome to Holland" by Emily Kingsley.  You can read it by clicking HERE.

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