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  The results also noted many patients were successfully withdrawn from other medications including mood stabilizers, anti-depressants, and anti-psychotics while participating in the study.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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Orchidometer

The following is a guest post by Mr Awesome, himself.  (Ayden's Daddy)

Orchidometer. It sounds like a tool the Ghostbusters use. In reality here is what an orchidometer looks like:

What are these specialty worry beads used for? I discovered the answer during the doctor's checkup of our oldest son.

First the doc pulls out a stethoscope, I'm familiar with that device, she listens to his heart. Thump thump. Next she pulls out a rubber mallet, still in the know there, she taps his knee and elbows. Whack, whack.

Then she jumps right in to it. "Can I check his testicles?"

"Uh, sure." I mean, she's a doctor right, that's one of the things they do. I've had the procedure done a few times; I'm an old pro at turn your head and cough. So we take off the little man's pants and she starts poking around at his assorted parts. Her gloved hands poke at his junk a little and then she prods his sack a couple of times.

She says, "Looks fine to me." Pants up, rubber gloves off, examination continues.

At the end of it, the doc, the wife and I take a seat at the table, the very small table. Why is it that everyone who works with children sits in those tiny chairs? I understand that it's a place for kids, but for the amount of money we pay in medical bills, buy a regular sized table, please.

There we are, the three of us hunched over this tiny tea-party table and the doctor is laying it out for us:

"This is normal. That is fine. This is normal. I'm a little concerned about this and that."

Then it happens. She pulls out the Orchidomter.

"This is how big your son's testicles are." She points to a round bead with number on it.

It takes a moment for this all to register. Various sized beads, each larger than the next with numbers on them. These aren't worry beads.

This is a ball measuring device. Immature smile creeps to my face.

"His testicles are this big, which is good." Push the giggle deep down.

"They could be this big." she displays a larger bead, cover the smile with my hand. I mean this is serious business.

"But if it were this big we might have a problem." she points to another bead which makes me question my own manhood.

"A lot of guys with this problem have enlarged testicles." Heh, she said testicle again.

"Medical stuff, medical stuff, testicle." She won't stop saying it. Showing us more, even larger beads. Stifle that chuckle.

"Serious medical stuff, more serious stuff, testicle." Damn it, I'm starting to laugh.

She shoots me a disapproving doctor look.

Uncomfortable laughter, "I'm sorry, I just, the beads, it's so..." I'm a twelve year old trapped in a thirty year old body.

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Non-Verbal Autism Research

Great article on the Autism Speaks blog about research in non-verbal children.  I think this small section of the article hits the nail on the head for me....I can't even begin to say how many times I've felt this way, especially after seeing those standardized tests put Ayden at his normal age range for cognitive skills!

An estimated 30% of individuals living with autism are functionally non-verbal, yet very little research effort was directed toward helping this group communicate their wants and needs. The inability to communicate leads caregivers and clinicians to the presumption that the cognitive skills in these individuals were low because the tests typically used to assess cognitive skill require verbal or behavioral responses that this group of individuals does not readily produce.

Go here to read the article.

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Clinic Visit - Day 2

...and onto day two!

Our morning started with the speech language pathologist.  (Who, by the way, was FANTASTIC).  Ayden was already in a mood when we got there.  I think the past two days were wearing on him after being in the car for 7 hours, sleeping in a new place, and the previous day's evaluations.  He did get a good night sleep, but we could tell early on he wasn't doing well. 

The SLP spoke with us about his history, his current IEP, and basically where Ayden was at overall.  We then had him go through the standard SLP test - he's done it before so he kind of knew how it worked.  He is asked a question, the points to the corresponding picture.  As expected, his receptive language tested right at or around his current age, with his expressive being of course much lower. 

The most interesting thing to me was that he actually has a medical condition that makes it so he can't speak, as opposed to him not wanting to speak.  Developmental Appraxia of Speech is what she called it.  Speech therapy will be very effective in treating this, and with time will hopefully correct issues.  It is why we often hear words from Ayden, then sometimes never again.  I do have to say it is a relief to know there is something we can do though and working with the SLP one-on-one should help out immensely.

So, our recommendatons from the SLP were as follows:  get a one-on-one SLP to work with Ayden to work on oral facilitation and touch desensitization to his face.  This is over and above what he is/will be receiving at school.  We should also work on comprehension past nouns including stabilizing words (under, over, up, down etc), verbs, and word approximations.  Also work on motor noises, environmental sounds, and identifying parts of a whole.  She recommended looking into an AAC device and/or alternative communication such as signs, PECS, etc keeping in mind to use multiple ways as they all will actually help facilitate expressive language.  She also recommended using purposeful play for most of these things I listed out above.  Another thing she was very insistant on was making sure we were following his non-verbal queues such as when he was done with something.  She said positively reinforcing the non-verbal queues he was sending to us is just as important as reinforcing the verbal ones - which I totally agree with, though we of course never thought about that.

She really was amazing to work with.  I wish we lived closer because I know she would work exceptionally with Ayden and our SLP experience hasn't been great after "firing" our first one, having mixed feelings about our second, and while I have no complaints about his in-school SLP, the one in Akron made me realize what we are missing out on. 

Our next and final stop was at the Occupational Therapist (OT).  I do have to admit, I was extremely spoiled with our first (and only) OT Ayden has ever worked with.  Ms Jane was so beyond amazing....it's hard to compare anyone else to her.  Unfortunately, she retired at the same time Ayden moved out of the EarlyOn program.  Anyhow...this OT left much to be desired.  We came in with specific questions of which none were answered.   The entire time we were with her she basically just asked questions we had already answered and put Ayden through the standardized testing - not very well I may add.  It took a lot of help from both Mr Awesome and I to get Ayden through it, while she mostly just sat there.  I know she CAN do that, but having been through this testing before - I know there are multiple ways to get the same goal and she seemed very unwilling to do anything outside her little box.  For an already over-stimulated little boy...it was just a lot.

As expected, Ayden again tested within his age range for cognitive functioning, but tested very low in fine motor skills.  Her recommendations were to work on drawing upright and full body movement to keep him interested.  We need to work on drawing and handwriting for him a lot to prepare him for kindergarten.  She did give us a couple programs to try as well as a few other activities to work on fine motor skills.  As with everyone else we saw, she did recommend additional one-on-one OT that was sensory and motor based.

Again, I am just so disappointed in how the OT worked with Ayden.  She was supposed to be better for FX kids, but it seemed like she was almost annoyed by Ayden and the fact he was overstimulated.  She was really the only person we saw that I have anything bad to say about.  I really hope her report that she sends is much more conclusive and answers the questions we posed to her.  I know Ayden would benefit from a sensory diet, but I have no idea how to incorporate that and that was our biggest question/concern we posed to her! (to which she replied "I'll put some ideas in my report")  The one positive thing was that she was from Michigan, so did have a few local resources for us. 

So, between the two posts here I think it's a good summary of what we covered.  We have Ayden's IEP coming up on Thursday to set next year's goals, and Mr Awesome and I have goals for him for the summer as well.  We basically had to piece through all this information and decide what was most important because we obviously cannot tackle all this at once.  Not only would it be overwhelming to us, but also to Ayden.

Now, we need to go about finding a local SLP and OT for Ayden for one-on-one work.  I have to admit, this is going to be difficult.  We of course need both of these therapists to have a pretty specific skill set - and while I don't think we will find one locally familiar with FX, I can hope, right?!   I emailed the FX Clinic coordinator at UM to see if they could give us some recommendations for therapists explaining we had just been to the Akron Clinic where they were unable to give local therapist recommendations (understandably so), but was basically told we had to fax them medical records and obtain a referral - THEN be seen at the clinic before he could talk to me about it.    FRUSTRATING.  So, I guess I will just have to start looking up some SLP/OT in the area and see what I can find out. We definitely want to get at least an SLP for Ayden over the summer.

And that is where we are at now.  It should be a busy week with the IEP coming up and we are once again going to try some potty training with little brother.  All-in-all, great fun. If anyone has any insight or recommendations that may help with any of this, I would be extremely grateful for the advice!

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Clinic Visit - Day 1

It's difficult to know where to begin this, as we were just given so much information.  Those that have been through that first clinic visit I'm sure know the feeling!  I'm glad I had a good idea of what was happening as far as the standardized testing and such ahead of time.  We've been through all of that before, and it really wasn't much different.

Day one started at 8 am.  We met with Dr Delahunty and Dr Benore for a better part of the morning; though not at the same time.  We were in a one-way mirror room where they were observing Ayden and us together while we answered numerous questions about my pregnancy with Ayden, family history, and of course about Ayden himself.  Ayden pretty much played the entire time, except when he had to be examined (which really was about 10 minutes all together).  Dr Delahunty was fast and efficient, she is used to working with FX kids...and Ayden's affinity to being touched was apparently not one of the worst.  Let me just say, I would hate to see the worst if he's on the mild end!

We had some good discussions with Dr Benore about behavior modification before we left for the morning.  It was nice to hear that we were doing a great job with him already. (He noticed and gave examples from the morning that we'd already done)   I've heard often that so many parents need to be taught proper discipline before the doctors or therapists can even being to start teaching them how to actually modify the behavior.   He gave us a lot of resources to look into and strongly advised us learning about behavioral psychology.  Knowing how it works should help us as we begin to start any type of behavior modification.

The "meat" of the day really though, was in the afternoon when we met again with Dr Delahunty.  She went over what they found in the medical exam and what her and Dr Benore's recommendations were for Ayden.  A lot of what we received was medical terms for things/quirks Ayden has - so I'm going to go through them one by one.

1) Sleep Latency Disorder - Ayden doesn't produce enough melatonin, which is why he has a difficult time falling asleep at night (though, we thankfully don't have the added problems of him staying asleep - he does that just fine most nights).  It was recommended we put him on 1.5mg of melatonin (over the counter) an hour before bedtime.  Overall, this gave us some very immediate results.  We picked up some melatonin after our appointment and today will be day 3 of Ayden going to bed without any issues whatsoever. 

2)  Anxiety NOS - We of course knew Ayden suffered from anxiety, especially in social settings.  Luckily, it is considered very mild and their recommendation was to start teaching him ways to self-soothe himself when he feels anxious.  The recommendation was to consult with a behavioral psychologist to help with teaching self soothing methods; however, we are going to work on this one ourselves for a bit first and then if it's not working we will look into outside help.  It will take a decent amount of observing him, but we've helped him with calming/coping skills before and they do work.  What we need to do now is make it so that those calming/coping skills are things he can do by himself instead of relying on us for help.

3)  Flat Feet - Again, not a surprise to us.  Also, not a concern.  Unless he starts having terrible balance issues or pain (which would more than likely be when he is older) we can leave this part untreated. 

4)  Muscle Tone - I want to do a big HOORAY in this area.  Ayden has had low muscle tone in his legs and jaw since he was born - but it seems to have corrected itself!  His jaw has other issues, but low tone and high palette seem to be non-existent now.

5) Autism - This is a big one, at least for me.  Let me preface this by stating that 60% of males with Fragile X fall on the autism spectrum.  That's a pretty big chance of course, and quite honestly while it is hard for me - it's not unexpected either.  Ayden tested into the "mildly autistic" range of the spectrum, being listed as "Autism Spectrum / Pervasive Development Disorder (PDD).  Essentially, he has problems socializing with peers, low to no verbal speech, atypical play habits, and repetitive motions (with Ayden, this is hand-flapping and hand biting)

So..that's the basics of our day one.  Our overall recommendations were to first and foremost get him as much speech/language therapy as possible.  Anyone around us knows this is our goal as well - speech / communication is definitely priority number one around here.  The other things were to push visual communication (where HE is imitating conversation), PECS training (for mom and dad), and ABA Therapy.  Another vision and hearing screening were also recommended as well as a private physical therapy evaluation.

Overall, it really was a ton of information - but it was ALL good.  Ayden behaved above and beyond what I ever could have expected out of him.  Dr Delahunty actually commented that he is the most well behaved FX kid she has ever seen - which she may say to others, but it made us pretty proud of Ayden.  Day two consisted of evaluations with a Speech Language Pathologist and Occupational Therapist.....which I will talk about in a later post.  I also have a VERY funny story to share but I must save that for later as well and put myself into bed!

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Clinic Visit

I'm going to put this as a placeholder for now, but want everyone to know I'll be posting sometime in the next few days about our clinic visit (though hopefully tonight!).  We're still kind of recovering, and as you can see from the posts below I had some other things to post about as well! 

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MI Fragile Clinic Opens!

This is a direct copy of the email I received regarding the opening of the MI Fragile X Clinic.  We are SO excited that we now have an in-state clinic (especially after driving 5.5 hours this week to get to one!)

Although it is still going through the process to be an official, NFXF-sanctioned clinic (see more at http://www.fragilex.org/html/clinics.htm) and part of the Fragile X Clinical & Research Consortium, the Fragile X Clinic at the University of Michigan is open for business!  An exciting time for families in Michigan.

As you know, we had Dr. Peter Todd speak at our Fragile X Association of Michigan meeting last Saturday evening.  It was great to have him there.  He filled us in on the FXTAS research going on in the Todd lab at U of M, gave us some genetics info and subjected us to a genetics quiz.  It was a great meeting and well attended since we had a special guest.

If someone is interested in going to the U-M Fragile X Clinic (for someone with FXS, FXTAS or FXPOI or a possibility of one of the Fragile X-associated disorders), they would contact:

Rob Owens - Fragile X Clinic Coordinator
734-232-6750 or 734-763-3427
rowensii AT umich.edu

The three directors of the U-M Fragile X Clinic are:

Jeff Innis, MD, PhD
Professor of Human Genetics; Professor of Pediatrics and Communicable Diseases;
Director, Division of Pediatric Genetics; Director, Michigan Medical Genetics Laboratories

Donna Martin, MD, PhD
Assistant Professor, Department of Pediatrics, Division of Genetics,
Department of Human Genetics

Peter Todd, MD, PhD (specializing in FXTAS, more details on FXTAS at FXTAS.org)
Bucky and Patti Harris Professor
Assistant Professor of Neurology
Department of Neurology

There are a number of specialists at University of Michigan and other clinics in Michigan who are interested in being your Fragile X experts in the state.  Again, the first step would be to call Rob, Clinic Coordinator.

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A Special Surprise

Just after Ayden was diagnosed, I ran across a website that was offering a merit-based iPad giveaway.  It was a very open-ended entry in that we were asked to send an email (or leave a comment) stating what and why you would use an iPad for.  I entered the contest with a short email telling a little about Fragile X, what our daily struggles are especially with language/communiction, how much Ayden loves his iTouch, and how beneficial it would be for him to have one to help with communication. 

Ayden was chosen as one of the 40 finalists out of around 350 or so entries (at this point, 20 of the finalists would be chosen to receive an iPad).  I remember getting the email and crying.  I entered, but never expected it to go anywhere.  We were informed shortly after we learned we were finalists that there would also be a $500 software allowance offered to each winner.  It was on Mother's Day though, that we found out Ayden was chosen to receive one of the iPads.  I am still completely overwhelmed.  Paired with the software allowance, we will be able to get software that will help with visual schedules, make social stories, practice handwriting and fine motor skills, and function the ability to function as what is essentially an AAC device (the regular ones can run $8-10k!)  As a side note, I will be reviewing the apps we choose for Ayden

Thank you just doesn't seem to be enough.  I only hope other children/families will have an opportunity like this as well. 

As it turns out...another opportunity like this may be coming up very soon!  Marissa's Bunny is running a raffle right now for an iPad 2.  Raffle tickets are $2 a piece, and their semi-silent business partner will be donating 5 more iPads for ever $1000 raised!  Those iPads will be given away like Ayden's was.  Please take a minute to consider donating/purchasing a raffle ticket.  You will not only be helping two amazing families with surgery expenses, but also helping to put iPads in the hands over other children that could benefit from them.  The raffle is open until May 27, you can see the full details here.

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Mother's Day

For all the moms out there who had to wait longer to hear a first word (or are still waiting), who spent more time in doctors offices with their child than on playdates, who endure the countless 'bad days' and the stares from other people...For the moms whose child's first friend was their therapist...For the moms who face Fragile X everyday...this is for you. - Author Unknown

Thank you to all those that helped to make this video. I know Holly and Eric, but I am sure there are others. What a wonderful gift.

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...and just like that we're into May!

It's a busy month for us here, but most of it will be condensed into the next two weeks or so. Next week, we will be leaving Issac with Auntie Cole and Uncle Jon while we take Ayden to the Children's Hospital in Akron, Ohio. It's difficult to think of leaving my baby for that long, but of course he'll be great. I doubt he'll even notice we're gone!

As for Ayden, I'm sure he'll enjoy the time with Mom and Dad including our roof-top hotel pool. Luckily, these evaluations won't be too stressful on him, but mom and dad will get information overload! I'm more worried about the car ride as far as Ayden is concerned. Four and a half hours in the car is a lot for him, but we'll make sure we have Angry Birds charged up. I find myself wishing we had our portable DVD player by now, but we'll manage.

After our clinic visit, we have Ayden's IEP. While not our first IEP, it will be the first since his official diagnosis. I noticed they added and Autism specialist to the invite list - so that should be interesting. The clinic is already aware we have our IEP coming up and will be giving us some suggestions while we are there so hopefully the things Mr Awesome and I want will be given place on the IEP without much fighting (or any at all!). We're very lucky to have a good team with Ayden already, so I don't anticipate any issues.

Meanwhile, school is quickly coming to a close for Ayden and I need to be getting myself prepared for the summer months. That means making sure I have special one-on-one time with Ayden to do some learning/speech since he won't be getting that at school. We are also going to be looking into Speech and/or Occupational Therapy over the summer. Our insurance covers 36 visits a year if "medically necessary" - so hopefully we can get Ayden under that and get 1 or 2 visits a week while he is out of school. It shouldn't be an issue, but who knows with insurance! We are definitely bringing it up at the clinic visit and I'm sure Ayden's normal pediatrician will help us however we can - she is pretty great.

So, that's us n a nutshell. The good thing is we come out of this month with a definite 'THIS is how we are moving forward' plan. I'm very excited for the upcoming year. I think back to Ayden at the beginning of the school year and how he wouldn't even put on his backpack, talk, sign. His main form of communication was pointing randomly in a direction and we expected meltdowns every time someone outside our normal family even entered the home (let alone going to someone else's!). Now we see him walking up and down stairs, putting on his own coat, taking off his shoes/pants, washing his hands (with help), saying a few words, using some signs, going to other people's homes with no meltdowns, waving and/or hugging people when they come to visit... OH THE PROGRESS! It really is amazing how much he has grown since school started, so I'm sure you can see why the upcoming year is looking wonderful for us.

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