Research Wednesday

For this weeks Research Wednesday, I want to focus on another clinical trial currently taking place.  STX209 is a little differnt type of drug than AFQ056 that I went over last week, but it has the same theories behind it.  It is essentially a receptor agonist, classified as a "selective gamma amino butyric acid type B receptor agonist" or GABA-B for short.  STX209 inhibits glutamate signaling in the brain and should, thereby, indirectly inhibit the excessive metabotropic glutamate receptor (mGluR) mediated protein synthesis implicated in fragile X syndrome. The current studies not only cover Fragile X, but also ASD which would make it an ideal candidate for our little Ayden should it hit the market.

Seaside Therapeutics is the company responsible for STX209 and is currently working on Phase III of testing.  The Phase II results were released last summer where parents and patients were reporting decreased outbursts and tantrums as well as increased sociability.  The results also noted many patients were successfully withdrawn from other medications including mood stabilizers, anti-depressants, and anti-psychotics while participating in the study.  While not listed in the actual results section of the Phase II trials, I have spoken with many parents participating in the trial who have repeatedly mentioned they also noticed speech improvements along with the behavioral improvements noted in the studies. 

"We're seeing reductions in a lot of types of outbursts and irritable behavior, along with increased communication and social behavior," says Dr. Randall Carpenter, co-founder, president and CEO of Seaside.

Overall, another very promising study out there for not only FXS, but also for Autism.  I can't wait to see where the next phase of testing brings us on this!

You can read more about STX209 and Autism (ASD) here
The clinical trials section about STX209 from Seaside is here
Also, the official clinical trial information for Phase III is listed here (You can also see any locations that are participating in Phase III from this link.)

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PECS Phase 1

As I talked about earlier, we are really pushing PECS with Ayden this summer.  After our visit at the FX Clinic, and a nice chat with Dr Benore - we realized we were doing PECS a bit wrong.  I realized I wasn't doing it "normal" per se; however, Dr Benore explained the actual logic behind PECS and why it worked the way it did.  Mr Awesome and I quickly decided we needed a crash course in how to actually train Ayden to use PECS effectively and as a communication tool.

It was not difficult in the least to find information online about each phase/level of PECS and how to implement/train for each step as well as what needed to be accomplished (and why) before moving onto the next phase.  Ayden has a lot of the groundwork in place from the simple exchange he has been doing at school, but we decided we needed to start from scratch at home to be sure the process behind it was cemented for Ayden.  Our main goal is to have him communicating independantly and these steps insure that to happen.

Phase I:
Phase I focuses on the physical exchange.  We want Ayden by the end of this phase to pick up a picture, reach toward a communication partner, and release the picture into the partner's hand to receive a desired item.  He's doing this at school fairly effectively, so it is really a short phase for us.  The key things are to use a variety of items, no verbal prompts to get him to give us the picture, and reinforce with complete sentences what he wants after giving us the picture.  For example "You want a car!" when he gives us a picture of a car.  Phase I is completed when he is consistently exchanging a picture to receive a desired item.

We have been working Phase I for a week with Ayden now.  He really understood this after the first couple training sessions (which sound a lot more "school-like" then they actually are because he's just playing, really).  I believe we are now ready to move onto Phase II - and not even into the summer yet!  (though our temperatures really say otherwise).  Phase II is all about increasing spontaneity and we will be implementing the book in this phase as well (a place for him to keep his picture cards, build sentences etc) - so I have a bit to get ready for.

The key thing we need to keep working on with Ayden which is not specifically written into the steps of PECS, but I think is kind of "understood" (and this is part of his IEP as well) is to initiate "conversation" by getting the person's attention appropriately.  I think we will be working on tapping on the person he wants attention from, though we have not decided for sure.  Essentially, we need this queue to be either verbal, or physical so he can gain attention when someone is not looking at him.  If anyone has any ideas, I'd love to hear them!

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Annual IEP

Yesterday marked our second IEP meeting with Ayden's ECSE classroom.  I was completely stressed over the meeting, let me tell you!  I'm not sure why I was stressed because we have an amazing team working with Ayden.  I guess this stuff has just never been what I expected, and also this time we were prepared with what we wanted - very specifically prepared.  We received a lot of input from the Fragile X clinic and know where we want to see Ayden, so I worried that maybe his school wouldn't have the same idea.  Very lucky for us, our goals we had setup for him were very similar to what the school had put together as well.

Essentially, we now have a very good plan in place for the summer and next school year - though we will be having another IEP in the fall because of Ayden's autism diagnosis.  Once there is a medical diagnosis, the school has to also do an evaluation to determine services and sometimes the school and medical diagnosis differ. (His teachers are pretty sure it will not be different in Ayden's case though)

I think I'm going to be creating a goals chart for Ayden as another section on this blog...but here is a basic summary of what we are looking at for a year from now.

Summer: 
 - Work on fine motor skills - especially drawing/writing. 
 - Implement PECS at home, shooting for Level 4 proficiency by the end of the summer
    (Level 4 PECS students should be able to construct simple "I want" + "picture" sentences)
-  Begin to use picture stories to help with self-independence tasks that are part of daily routines
-  Begin to use social stories to help alleviate anxiety

School 2011-2012
- Continue to work on fine motor skills.  Be able to draw horizontal & vertical lines on command as well as a circle and square.  Also be able to write his name.
- Continue to advance in PECS to reach Level 6.  This is the equivalent of being able to construct and spontaneously use short sentences such as "I see", "I want", and "It is" as well as answer questions posed to him that would trigger those responses. 
- Implement a visual schedule that includes teaching Ayden that anything on his schedule is unable to be refused. 
- Continue working on taking turns with peers and purposeful play activities
- Teach him how to use wait, break, and help cards as part of his schedule and PECS. 
- Be able to answer yes/no questions with a nod of his head or the applicable PECS card.  He can already shake his head no, but has not started doing it for yes.

All in all, it was a fantastic meeting.  I can't stress enough how lucky we are to have this team working with Ayden.  They are very knowledgeable and helpful but most importantly want to work with us so Ayden can receive the best help possible.  It's more than comforting to know that when I'm sending my non-verbal son off to the care of others that they really have his best interests at heart and push him just as hard as we do at home.

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Research Wednesday

I've been thinking a lot about how I want to direct this blog.   The big thing I have found as we jumped head-first into this journey is that there is not any one good place for information.  So many websites have great information - but you have to piece a lot together or it's very basic.  I want to help raise awareness of FX, help other families that are on this journey as well, and keep our friends/family updated as to Ayden's current progress.  With those three things in mind, I'm going to start doing something I'll call Research Wednesdays.  Essentially, I'll be trying to do a post about new/current/exciting research each week in the field of Fragile X or Autism.  As I am a FX Carrier, there may be some things about FXPOI and FXTAS as well, but my main focus will be directed toward those affected by Fragile X.  I'm also going to be adding at least one more "themed" day, but I'm not sure what I'll be calling it yet even though I do know what it will be about.

For the first Research Wednesday...I want to focus on what I feel is one of the more promising clinical trials out there right now.  There are a few pharmaceutical companies running mGluR5 Antagonists studies. What exactly does mean?  Metabotropic Glutamate Receptor 5 (mGluR5 for short) is a receptor in the brain that plays a role in protein synthesis at the junctions between nerve cells.  It becomes hyperactive as a result of the gene mutation that causes Fragile X.  The thinking is that by blocking this receptor, the activity will be restored to a normal level. While I mentioned there are a few of these studies out there, probably the most recognized of these studies in the FX community is the Novartis Clinical trial of AFQ056 which is currently in Phase IIb/III.

I think the reason this one is so well known is because of the Phase I results which were published in January.  Phase I testing showed reduced repetitive behaviors (such as rocking, hand flapping etc) and other behavioral improvements after treatment.  Some parents also noticed their children were more able to engage and interact with them while on the drug and also reported fewer disruptive behaviors such as tantrums.  While the first phase showed no evidence of improvements in learning and memory; Novartis thinks that such cognitive changes might require longer treatment times.  The researchers reported their findings online in Science Translational Medicine.  You can view the full report here.

Phase IIb/III is currently in the recruiting phase.   They are mostly recruiting men and women with Fragile X in the 18-35 age range, though some centers are also recruiting 12-17 age range as well.  If you are interested in participating, you can find out more here:  Fragile X Clinical Trials.   The AFQ056 trial is currently listed at the top of the page.

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Oh! The Places You'll Go

With Ayden being newly-diagnosed with Autism on top of the FX diagnosis - I've been doing a lot of reading on autism which has of course involved numerous blogs. (I find parents to be an invaluable resource)  With two spectrum disorders - nothing is going to be alike even if I do run across another child with both FX and autism, but I find a lot of comfort in reading about how others have overcome the difficulties that either or both of these disorders face.

I did read one blog yesterday that really hit close to home.  It's also been a recent topic of conversation between Mr Awesome and myself.  The post was mainly about how many families that received an autism diagnosis felt as if the outcome for their child was not hopeful.  It went on for the blogger to explain about her son's diagnosis and her feelings about this as well as how she dealt with it.  It was very well written, and while the entire blog post was fantastic, it was this quote that jumped out at me...

"Unless people have higher expectations of our children, there is nothing to motivate/encourage them to think about alternative solutions."
How can we as parents put a cap on where our kids can go?  If someone says to me "Your child will never do this" or "Your child can only go this far", I find that unacceptable.  I was never told as a child that I could not do something, no matter how outrageous it was or how the odds may be stacked against me.  I was given support and asked "How can I help you?".  THAT is what parents, caregivers, doctors, therapists, family...anyone that comes into contact and has a relationship with my child should be saying.  I refuse to accept anything less.  I certainly cannot say what either of my children will do in the future, but I know the possibilities are endless and they will shine because that is who they are.

You have brains in your head.
You have feet in your shoes.
You can steer yourself any direction you choose.
-Dr Seuss, Oh! The Places You'll Go

If you are interested in reading the full article, you can check it out here:  The Bigotry of Low Expectations

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