STX 209 - Our Journey So Far [Update 5]

I haven't done an official update in quite some time.  We have been on open label now since January 18 (a little over two months).  To say we're happy with his progress may be an understatement!  We don't really notice a lot of the behavior changes being around him all the time, but when I look back through videos it's very noticeable so I wanted to share here.

We first started seeing Ayden's speech emerge in September of 2012, he was a little over 5 at the time.   If you watch him here, you can see he's spinning and doing a lot of gaze avoidance.  He also is having a very difficult time "accessing" the right sounds for what he is trying to say.

The next video is about a month later on 10/10/2012.  The same type of social problems with gaze avoidance and such are present.  He's not spinning because I put him on a stool that he does not like to get down from. You can see how difficult it is for him to focus on what was happening.  He is saying more words than he was previously though is still having a difficult time accessing the correct sounds.

These two videos were before we entered the blind portion of the STX 209 trial.  I wanted to share them as the difference in how he is even acting improves.  These two videos were also taken under optimal conditions for Ayden, something I did not do later on.

This next video was taken one month into the blind portion of the trial.  You can see improvements in almost all areas.  He was eating at the time, but you can see his focus is much better than in the last two videos.  You also can see his is looking directly at me when he says most of the words (though not between words much).  More importantly he is actually accessing sound without many issues and even isolating certain sounds.

The next video was taken at the end of the STX 209 blind trial / beginning of the open label portion.  We were actually a week into the open label when this was taken, so he was somewhat improved from how bad he actually got at the end of the blind trial.  He essentially lost all speech and became very dis-regulated  no focus etc.  Notice his eye contact is gone, focus is pretty much not there, and he is having such a difficult time accessing sounds -- he isn't even trying on some.  This was the most heartbreaking video to make, but I wanted to document it as well.

As I said earlier, we are now two months into the open label portion of the trial. Ayden is currently on 20mg of Arbacolfen (STX 209) taken 10mg 2x per day.   At school, they are seeing improvements across the board.  Socially, academically etc.  He has at least doubled where he was at in all areas since he started on STX 209.  He has been able to isolate every letter of the alphabet and is currently working on combining vowels in speech therapy.  His overall vocabulary is somewhere around 50 spoken words; some of which are beginning to be heard spontaneously in small sentences.  He is beginning to try to read words from books as well.   Most importantly he is playing and socializing with his peers.  At school, we've seen a huge decrease in stim behaviors (though at home we're seeing more in some cases).  Just in case it's difficult to trust a mom who of course sees the best in her child, let me end with this before I share one last video.  We are at 40-60% inclusion for Ayden right now in his IEP.  We were informed by his ASD room teacher at parent/teacher conferences that she is pushing for more inclusion next year.   We're looking at upwards of 60-80% of his days spent in a general education setting with his peers next year.  

The final video I want to share is from last evening.  We were doing our normal bath/bed routine and Mr Awesome was playing a game on his phone.  Ayden came in, requested to sit up on the counter next to Daddy and then began talking.  We don't understand [most of] his words here, but the voice inflections and different sounds are certainly patterns of speech.  His little voice is just the sweetest sound in the world.


 

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UNC Infant Study

So, the second part of our trip down south.  You can read about the beginning of our trip in USC Infant Study post.

After we finished in Columbia, we got in the car and headed north.  Our final destination was UNC, but we stopped in Charlotte to visit with some friends of mine. These ladies are part of a small group of women that met when we were all pregnant back in 2006/2007.  I'd never actually met them before, but it was just like catching up with old friends.  It was unfortunate that our little 5 year olds couldn't all be there as well, but so wonderful to finally meet both of them in person.  Even so, I had a wonderful time eating oreos, drinking margarita punch, and just talking. It's hard to think we can't just make plans and go out for a girls night sometime, not just with these two but all the women in our group!  Hopefully when we return next year for Emma's 24th month visit we'll be able to get together again but with the kids.

We left Charlotte and headed into Durham/Chapel Hill before dark on Sunday.  It was neat to be driving into Chapel Hill and start recognizing the area from when we were there in August.  East Lansing has a special place with me and is wonderful to live, but if we ever had to leave this would certainly be a city I wouldn't living in.  The atmosphere and people are much like home and part of why I fell in love with East Lansing --friendly, smiling, overall just happy, and comforting.  Plus the area is beautiful!

We settled into the hotel just fine, and just as in August had amazing service.  Emma didn't want to sleep with any light or noise so I spent the evening in the bathroom on my laptop.  She slept at least, but it wasn't very comfortable!  On Monday morning we headed to our first stop of the day.  I keep in touch with one of the people on the team on Facebook and she was the person doing the evaluations.  It was awesome to see her again!  The evaluations did not go as easily as they did in Columbia.  I think just all the travel was wearing on Emma finally and she was very ready to be done.  We headed out of the evaluations directly to the MRI.  Thankfully she was so sleepy she went right down and slept through most of the MRI. We ended up not finishing completely this time, but they got through enough for the study.

I've posted before about this study, but to read a little more on some of the results they are seeing, you can see the latest news on Delayed Gaze Shifting an Early Marker for Autism.

Our flight wasn't supposed to leave until 5:45pm the next day.  With the help of the group at UNC though we did end up changing to an earlier flight.  I was SO thankful we had too, because a nice storm of ice/snow was getting pretty bad as we came into town - 4 hours earlier than expected.  Our flight from Detroit wouldn't have made it until much after 11pm if we would have stayed with our original flight (which I know because that is where my luggage ended up)  so it definitely worked out.

Also..since I am such a procrastinator, I have the results back from her testing.  The behavioral assessment that was completed at UNC (Mullins) came back with all test scores in the normal range.  Even though her receptive language appears low with a monthly value, it is still in the normal range.

Fine Motor: 15 Months
Gross Motor: 13 Months
Visual Reception: 12 Months
Receptive Language: 11 Months
Expressive Language: 12 Months

The adaptive behavior assessment was done at USC (Vineland) and also came back with all scores in the normal range.  This refers to basically how she meets her daily needs.  Her standard scores were from 100-110 in all areas (communication, daily living, socialization, and motor skills).  "Normal" or "Adequate" score is between 85-115.

Overall, very good results.  She is continuing to develop normally and I continue to question each time she falls a little outside a "normal" developmental milestone.  It's a good combination!

And because I don't have a great picture from our time away...here's a nice video to show Emma's new favorite thing -- animal noises.

If you have an infant or know someone with an infant with a premutation or full mutation of Fragile X OR has an older sibling with Autism, please consider being part of this study.  It's very difficult to find children that young to participate and the amount that is gained for helping others is so vast.  Even if you just want more information, I can put you in contact with the study and/or give you more in-depth at what we did, arrangements etc.  

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When Your RAWR Goes Silent: Part 2

This is the third of a series of guest posts by my friend Marie at All Things RAWR.  I have had the privilege of seeing her help and inspire so many people and just be a positive light in this world when the world certainly gave her a reason not to shine.  I asked her to write on a couple other topics related to [Fragile X] carriers, as I mentioned this is the second in the series.  Read her first one here:  Grief:  The Silent RAWR., and the second part here:  When Your RAWR Goes Silent, Part 1   I hope you are all as inspired and touched by her words as I am.

I've been agonizing for days in my mind about what to say and share in this section because Depression is such a complicated beast. The best I can describe Depression, from my layperson's perspective, is that Depression is your body's physical and mental response to being out of balance and overwhelmed for too long.

So many reasons exist that can cause depression. I say "can cause" because one event might trigger depression at one point, but depression does not rebound when that same stressful event happens again. Some event that is a trigger for one person might not affect another in the slightest. Also consider that many factors play in to depression, from your physical health state, mental health state, community support, environment and more.

Part 2: Other Causes of Depression

Depression is your body's way of telling you that something isn't right, that you are not in balance. Very often, there was a significant change in your life that altered your path. You may find yourself feeling like you don't even know who you are anymore because life is so different from what it was or what you hoped it would be. When we feel so much pain, it manifests itself in our bodies. Physical symptoms start to show, and persist as depression.

Depression doesn't travel alone either. It finds friends with grief, guilt, anger, resentment, hopelessness and negativity in general. As a crew, they are soul crushing, life sucking, terrible awful feelings to have. Then realizing you're having them just intensifies it all.

It's a vicious cycle. It's a cycle that can be broken, but it takes work, commitment, hope and love. Love can conquer all. Recognizing and acknowledging the cause of your depression is the first step to understanding it, yourself and your solution for relief.

A few of the more common causes:

-- Illness or injury, in yourself or family, can cause depression in those it touches. Life IS different, things have changed. Often family and relationship roles get blurry lines or changed entirely. You may feel grief for the life you thought you would have, then guilt for wishing for that life again. If your new role is much different from what society says your role should be, you may feel added pressure from the community to 'fit in' again. You may feel a stigma of being 

The loss of a loved rex can cause a depression to the depths of one's soul. Grief plus depression can be a deadly combination because it is so crushing. Whether the loss was obvious and eminent or entirely unexpected doesn't lessen the grief of the survivors. You will grieve for the life had and lost, or never touched. Holidays, big events and special occasions will be twanged with sadness at the soul not there in the flesh. Anger and resentment may flare up as life moves on for others

Moving and Divorce are huge life changing events that affect interpersonal relationships, environments and ultimately, physical and mental health. If you didn't grow up with a lot of change, recognizing that big changes may cause anxiety can help you find ways to reduce your levels of anxiety. What are you most nervous about?  When kids are involved, it's important to be respectful of their experience. Making new friends, losing old friends and starting over is really hard and has lasting consequences. Make a point to seek out tools to help them adapt.

Becoming a Preggosaurus Rex or Mama Rex, the whole process of pregnancy and motherhood is exhausting, taxing on our bodies and supremely stressful. You're growing a whole new brain and developing new circuits. You now have your heart running around outside of your body, exposed to the world, the elements and bad stuff. Having kids is stressful, trying and although rewarding (so I've been told), often overwhelming.

Un-diagnosed health issues can also lead to depression. A worrisome reason for developing depression because you might not even realize something is wrong until you're already experiencing depression symptoms. Those same symptoms may also mask what is really going on, such as cancer, heart disease and thyroid issues. So if you haven't experienced a big life change, get plenty of sunshine, and still feel BLAH, it's time for a check-up with your doctor.

***Author's note: having a thorough education in Interior Design, I firmly believe disability is a problem with the environment and NOT with the person.   A "disabled" person in a supportive environment can be enabled to succeed

If you recognize yourself in any of the above, please contact a professional for medical or mental health support. Finding someone to talk to and getting evaluated by your doctor are two easy steps on the path to bringing yourself into balance and wellness.

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How Can YOU Help?

I hope you read my post on Advocacy Day.  If not, please take a minute to read this before continuing on with this post as it is directly related.

I decided to do another post regarding Advocacy Day because I want to not just touch on what I did, but what our group was actually asking for.  I'm not going to cover everything, but want to touch on the Acts and give places to find more information about each of them. These things aren't just important and relevant to Fragile X, but also to autism and countless other families living with special needs.   I would like to share this information and then challenge each and every person that reads this blog to submit their own letter to their members of Congress.

Achieving A Better Life Experience Act (ABLE Act)
The purpose of the ABLE Act is very simply to allow for those persons with disabilities to have an account that they can set aside money to help with expenses for living but where they will not lose benefits provided to them such as SSI or Medicaid.  Currently, to receive those benefits there are restrictions on income and a total allowable assets of no more than $2000.  Simply put, the current laws actually discourage anyone with any type of disability from having a job, home, or really being productive, independent members of society if their income would exceed that amount.

If passed, the ABLE Act would become a subsection of Section 529 of the Internal Revenue Code.  It would follow all the requirements of a traditional 529 qualified tuition program.

You can read more about the ABLE Act with these links:

A brief overview of the ABLE Act in 113th Congress
Read about H.R. 647 in its' entirety and see who has co-sponsored it.
Read about S. 313 in its' entirety and see who has co-sponsored it
Current news article about the ABLE Act

Transition toward Excellence, Achievement & Mobility Acts (A Three Bill Package) also known as TEAM Acts.
This is a really big act, and I'm going to make it as simple as possible.  This set of bills would help those with disabilities with the transition from school age to adulthood by re-aligning current federal programs to focus on helping youth become gainfully employed, pursue a post-secondary education, and engage in typical community settings/activities upon leaving high school.

Each parent works hard for their child to be as independent as possible upon leaving high school, a parent of a special needs child is no different except our children often need more help to achieve those goals.  These acts are really just updating older laws in place to encourage those with disabilities to become productive members of society. The original laws it is trying to change were put in place when it was a normal thing to institutionalize those with disabilities, it really is very archaic and not at all helpful to society as a whole.

TEAM Act Overview from NDSS
TEAM Act Summary from Autism Society of Ohio

So now that you know a little bit about these bills...I need your help.  Your voice.  I'm going to make it SO SIMPLE for you.

1)  Find your local Senator(s) and Representative HERE.
2)  Open THIS document and either download it or copy it to a blank email.  Fill in your Senator(s) and/or Representatives name at the top, then your personal information at the bottom - these sections are in italics.  You may also update the first paragraph to personalize it more if you wish.
3)  Print off and mail to your representative OR email them - their contact information will be on that first link you went to.

If this STILL isn't simple enough for you... email me.  cmasters (AT) gmail.com  [you'll have to type that one out].  Include your zip code and personal information and I will prepare the letter for you, then email it back to you so you can submit it.   It doesn't get easier, folks.  Five or ten minutes is all it should take.  Stop only thinking about politics during election years or financial crisis - take action NOW.  When it matters.

These adorable little faces (and the faces of many others affected by a developmental disability) will thank you.

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Advocacy Day 2013

Wow.  I'm still in awe of how amazing the past couple days were.  I was excited for this, I knew what an amazing experience it would be - but I was not prepared for how much more it would be than what I expected.

I arrived in DC on Tuesday and met up with my roommate at the airport.  A small thing that I am so thankful for!  I had a small knot in the pit of my stomach from the second I left the kids and Mr Awesome at the airport.  Having a buddy to travel to the airport with and eat lunch before training really helped.  I was feeling much better by the time I walked into training - but began to fall apart [inside] shortly after.  Shortly after training started we were asked to introduce ourselves five different times in five different ways to someone else in the room that we had not met before.  Each way was specific - but it also put me entirely out of my comfort zone.  (as if I wasn't already).  By the time the five introductions were complete, I sat back down in my chair ready to vomit from anxiety.  Thank goodness I had time to recover and focus on training for a while before I had to speak or move again.  I had just about recovered when break time happened, and then forced myself to do a couple more things that kick started my anxiety yet again.

First, I hunted down the amazing Tracy and Mouse from Developmental FX.  These two women are amazing.    I've used their articles so many times to help with problems with Ayden and even to hand out to his teachers/school.  I introduced myself, told them a little about Ayden and asked if I could pick their brain later on a couple things.  They most graciously offered me their card and told me to call them if we didn't run into each other again over the next day or two.  This moment right here alone made my entire trip worth it.  If everything else had gone poorly and I had a terrible time (which was NOT the case at all) it all would have been okay because of this.

Second.  Well, I don't need to say anything about this other than I still cannot believe I agreed.  Yeah, that's me with the big green X.  (Thanks, Melissa  :P)

Training finished, and we broke into groups for dinner.  I had met the lovely Kathleen of My Son's a 'retard'! whom I had been following her blog since advocacy day last year during those five introductions I talked about above. She had invited me out to dinner with the group she was with.  Thankfully, there was a cash bar after training so I was able to enjoy a nice glass of wine to help with my anxiety before dinner.

Dinner itself that night was...let's go with "undesirable".   The company was outstanding, the food and restaurant not so much.  Let me just put a small sample of the menu - and make sure to pay close attention to the highlighted dishes in this picture:

The next day was the reason I was there.  As the evening before progressed, essentially every single flight out of DC was cancelled for Wednesday because of the impending snow storm.  Some channels were predicting 12-14 inches of snow.  By 4 am, the federal government was officially closed.  At 7 am - we received a call from Congressman Harper who had graciously scheduled a tour of the house floor for us.  Congressman Harper also has a son with Fragile X Syndrome - he takes especially good care of our Advocacy groups while in DC each year.  We were advised by him to head to the Capitol and that our tour was still on - so off we went!

Our first stop was a tour of the House Floor - a place not open to the public.  We were not allowed to take any pictures or anything really into the room itself.  The amount of history in that one room is just utterly phenomenal to sit and think about.  Congressman Harper talked about the 1954 House Chamber Shooting and showed us the actual table that was damaged during the incident.  (Which I was sitting one desk over from - the bullet hole still in the drawer and repair marks on the surface of the table quite visible).  He also talked about how President's Roosevelt's speech on December 8, 1941 was made in that very room.  There were other things talked about, but those were some of the highlights.  On our way to our first meeting, I was able to visit Statuary Hall and see the newly unveiled Rosa Parks statue as well.

At some point during the morning, it was decided to run a condensed version of our scheduled appointments.  This meant that we were to head to each Senate and House office that we were assigned to and request an early appointment.  I personally met with staff members from the offices of Bill Huizenga, Daniel Kildee, Mike Rogers, John Conyers, and Sander Levin.  Our group also met with staff members from Dan Benishek, Fred Upton, and Gary Peters offices.  For the other six representatives we left a packet of information about Fragile X and the different things we were requesting their help with.  On the senate side, we were able to personally meet with Senator Levin for almost an hour.  Turns out the "snow storm" was a blessing in disguise for us because so many offices had meetings cancelled and time to meet with us.

The meetings them-self were so incredibly amazing.  I've never felt like my voice has really been heard in the government even though I do my part and vote.  This though, was not like that at all.  It was such an amazing, empowering feeling to leave those offices knowing that we actually were making a difference.  Seeing the person we were meeting with become interested and start asking questions..well, it was awesome.

Our day at the Capitol ended as the House was voting to extend their pay freeze and uphold the current sequester until September 30 (end of the fiscal year).  It was quite something to be sitting in Dan Kildee's office with his Chief of Staff watching the house members vote in the room I had just been sitting in earlier that day.

I ended the actual day at a dinner with a whole lot of other Fragile X families - something not in short supply while I was in DC!

Following dinner, I headed to the National Mall to visit many of the memorials and monuments with some of my new friends - a must for my first time in DC.  You'd think visiting these places at night wouldn't be as awesome, but I'm fairly certain it was the best possible time to go (in spite of the cold).  It's humbling and breath-taking to see and I was very thankful the weather had cleared enough for me to go.

There was just so much that happened while I was there, and I wanted to make sure I really covered the reason I was there.  I would be leaving out a huge part of my time there though to not talk about all the amazing people that made up this day who also took time to do the same thing I was doing.  There were around ~180 other parents, family, friends, and self-advocates for people with Fragile X with us and they are the MOST AMAZING group of people I have ever been a part of.  We are very alone in the aspect that until recently I have not even met another family living with a child with Fragile X (since knowing about it) and in two days I met more than I can count.  People that are eager to share ideas about their kids and happy to hear about yours - especially the bad!  Mom's who share this carrier status - and make you feel normal when you're around them (instead of like the crazy one).  Even though I was more than ready to return home to my family, my X-Family as I'm going to call them have been missed every second since I walked out of breakfast yesterday morning.   I am counting down the days until I am able to see them again.

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When Your RAWR Goes Silent: Part 1

This is the second of a series of guest posts by my friend Marie at All Things RAWR.  I have had the privilege of seeing her help and inspire so many people and just be a positive light in this world when the world certainly gave her a reason not to shine.  I asked her to write on a couple other topics related to [Fragile X] carriers, as I mentioned this is the second in the series.  Read her first one here:  Grief:  The Silent RAWR.  I hope you are all as inspired and touched by her words as I am.


A slight rustling in the grass as just a few blades shift, sounding like the wind. Without noise, without fanfare, it slithers into your midst unbeknownst to you. Slowly it winds around you, surrounding you with the cloak of normalcy. Then it starts to squeeze. With growing force, it closes in on your world, it's grip starts to tighten. It's presence clouds your mind and darkens your heart. Slowly, like a constant leaking drip, it leaches your passion and motivation. It smothers your love. It fills your perspective with tears and hisses at positive thoughts. Slowly strangling your happiness, the snake of depression takes over your life, squeezing out the 'real' you. Quietly, depression strangles your RAWR into silence.

Depression is a complicated and fickle creature. Moving into your consciousness with the stealth of a snake, depression can quickly devour and consume a seemingly healthy, happy person. What makes it harder to catch and eradicate is that depression can come at you from many directions.

Part 1: The physical snake : Lack of sunshine

My first bout with depression was the year my family moved to Fairbanks, Alaska. I was 7 and had spent my entire life in sunny states when the military called us to the great white North. We arrived in the summer during the long days when the sun barely drops below the horizon. With amazing speed, the sun disappeared, plunging us into perpetual darkness. It wasn't long before my little self felt the effects of no sun. My emotional stability turned into quicksand. I slept more than usual. I also learned the bad habit of emotional eating to feel better. At the time, the technology wasn't there to support Vitamin D deficiencies and what is now known as SAD. Recognizing the changes in all of us, my mom would diligently fill up spray bottles (yes, mine was magenta) with food colored water, bundle us up and send us outside to art up the yard until it got dark.

(Tip: do not fill spray water bottles with yellow water. You'll wonder forever which was the kids vs. the dog.)

Life without the sun is no joke. There are people on this earth who can tolerate it better, but only with the right diet and genetics. However, we all need sunshine to hit our eyeballs every day. The sun is a key component to the music of our DNA and controls many metabolic functions, including queing in our serotonin and melatonin. Without those cues to our system, our body won't function properly. We'll feel "off", more tired, more hungry, more irritable. That's the start. Too long without enough sunshine and we break down.

There are many therapies designed to help combat those effects and employed with great force in the darker regions of the world. Happy lights, tanning beds, vitamin D supplements, gyms and more are available to combat the lack of sunshine. One simple therapy shared by Deborah Burnett is to have a bright, blue kitchen that you spend time in every morning between 9-11am. The key here is the light bulbs should have a higher Kelvin temperature range and so their light is bluer/ whiter. Cool White is often a key to the higher spectrum.

My other favorite anti-dote is one my mom knew instinctively: exercise. Exercise releases serotonin, endorphins and other "feel good" hormones. When done at the right time of day (before 3pm), exercise can reduce the impact of depression. Breaking a sweat helps to release all of your internal "piss and vinegar" as Raul likes to say, not only boosting your body but also your mind.

If you recognize yourself in any of the above, we encourage you to speak with a health professional. There are many resources out there to help you cope with and overcome depression. Seasonal Affective Disorder and Vitamin D deficiencies exist and there are tools out there to help you.

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