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.  

Read More...

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.

Read More...

Brief Updates

An update on the kids, STX 209, Fragile X Advocacy Day, and Fragile X Awareness Day.  Lots of short blurbs to close out the first month of 2013!

We have quite a crazy month approaching as we head into February.  I'm not sure how much time I'll have to update here - but certainly feel free to follow along on Facebook, Twitter, and Instagram.  I wanted to post a few small updates about a few things before we got into the craziness....

Ayden:  We are now in the STX 209 open label extension.  We have another trip to Chicago in February, then one in April, and then we will be on every three month visits.  We've upped his dosage one time since we started so he is currently on 10mg (5mg two times per day).  We are seeing many good changes on this dosage and opted to stick this dosage out for now to see how Ayden is doing.  The change happened very quickly when we upped his dosage (within a couple days) and we are still seeing improvements after a week on this dose.  We will have to decide whether to try to up his dosage and try to get a little better result, but want to leave him on this current dose until we stop seeing improvements.   We are still assuming (even moreso now) that he was on a high dosage in the blind portion of the trial, the top dose he could have had was 10mg three times per day.  If we go up from where we are at, the next step is 10mg twice per day.  Lots to consider, but for now we're just watching.   In related news, Ayden made his very first two-word [spoken] sentence yesterday.  I'm just amazed at the difference this is making for him.

Issac:  The one who normally gets left off the blog...is really turning into a boy rather quickly.  He's developed quite an attitude recently doing the full body sigh when we tell him something he doesn't want to hear and bursting into full-fledged tears when he doesn't get his own way.  He's also picked up asking "why" to everything in addition to "what".  Of course those are the things that make me want to pull my hair out, but he also has the best sense of humor and a giggle that can't help but make you smile.  His favorite thing to do lately is play video games - Mario, Sonic, and Skylanders.

Emma:  Baby girl's first birthday is about a week.  I'm not quite sure how it came so quickly...but wow!  We'll have her birthday, then her party, and near the end of the month head to South Carolina for a research study then to North Carolina for the second part of another research study.  I'm very excited to work with both teams at USC and UNC again, not so much looking forward to traveling/flying/driving by myself but it will work out. In case you're tallying at this point, all these trips also mean I'll be physically in five different states in over the course of a week period and more if you count flying over them.  YIKES.

The other thing I want to touch on briefly is Fragile X Advocacy Day.  Advocacy Day is sponsored by the National Fragile X Foundation.  It is basically a really big group of parents, grandparents, siblings, and self-advocates that go to Washington DC to advocate for Fragile X funding and other things related to Fragile X.  This is the first time I have really wanted and felt I needed to do something even close to this, but probably will not be able to attend.  Financially, the cheapest we could do it would run between $600-$800.  That number includes flight, hotel, food, and something to wear (stay at home mom clothes just don't cut it when you're meeting senators!).  I've been watching flights since October of last year and trying to decrease that cost but it just isn't happening.   There are a few scholarships available that I'm waiting to hear back on, but I expect at this point it isn't going to work.  I don't talk about money on this blog a lot, I feel it's very personal to each family.. I'm going to make a small exception now though.  We are very thrifty with how we live to make it possible for me to stay home with our kids.  We cut corners, make sacrifices, do whatever we can and it is totally worth it.  It also means that we cannot pull an amount that high out of our pocket.  Especially after cutting into our budget for all the trips to Chicago we've been making for Ayden.  I'm very grateful that we are able to make it work, at times like this though it is so hard!   Whatever the case, I will be doing what I can from home and I hope when I post again closer to the date that each and every reader will take a few minutes to write their legislators with me.  If I can't be there, my voice and hopefully each and every voice of my readers will be heard.  So, stay tuned.  :)

Fragile X Awareness Day is less than 6 months away, and I have PLANS this year.  Plans..fun, secret plans.  I can't WAIT to share them.  Hopefully I'll have something I can share in the next month or two so others can make plans with me.  

Read More...

STX209 Trial

Ayden turned five in July, which meant he finally was in the age range to participate in the STX209 trial I've posted about a few times.  At the time, we were unsure about putting him in it and actually had him on minocycline to see if we could see some improvement from that.  With only minor changes happening with the minocycline, we decided to do the pre-screen for STX 209 to see if Ayden even qualified and what all the trial entailed.

Turns out, he did qualify for STX 209.  We decided to go ahead and enroll him in the trial back in August.  Our nearest site is in Chicago, so it took at a little planning.  See, the first three visits are each two weeks apart and then there are two more visits about 4 weeks apart that follow the initial three visits for a total of 5 visits. In fact, the study actually includes 7 visits, but they combine the first and last two into one.  It is a lot of travelling for us.   Each visit is a one day trip to and from Chicago (4 hours each way).  We decided to enroll him anyways after all the amazing things we have heard regarding STX 209.

Well, our initial appointment was set for the first week in September.   A week before our appointment, we were asked to delay a month, pushing the first visit out to the beginning of October.  A few weeks before that appointment we once again were rescheduled but this time for just a week later.  As I'm sure you're guessing already since I haven't mentioned we started yet - just two days before our appointment we once again were asked to change our appointment.  Asked is probably isn't the right word...told we had to is better.  Our first appointment is now scheduled for October 29.  This pushes two of our visits into the holiday season (one of them actually has to be between December 20 and 25 - that's some nice planning) not to mention the stress of driving to Chicago in winter.  I'm incredibly frustrated at this point but what can we do if we want him to participate?

I'm hoping this will all be worth it for us.  If not, at least I know we've helped put others whom the drugs IS working for one person closer to having the drug FDA approved.  In the meantime, look forward to our first visit update *hopefully* around the end of this month.

Read More...

Christmas Time

I love Christmas.  I love spending time with family, the food, looking back at the past year...but when you are doing extra traveling, messing with schedules, tons of people, and activities that aren't normal it just can wear on your little ones.  Especially those little ones with sensory issues that need the consistency of a schedule to help them function their best.

We've been very lucky with Christmas time.  Each year we spend two nights with each set of Grandparents split by spending Christmas Eve with my family and Christmas Day with my in-laws.  It's a lot of traveling, but so very worth it.  (Even those years where we are driving in a snow storm Christmas Eve night!). 

With Ayden, all of this becomes very trying at times.  Opening presents causes anxiety, the waiting while others open presents is difficult as well for him, thanking those that gave gifts is also a small struggle - but through it all he manages.  We do what we can for him, without letting him skip out on anything.  It's always been important to us that he learns to take part in family gatherings.  We do other things to help with the stress it causes such as allowing him to do his favorite things longer or eat all day if that is what he wants.  I know many other FX parents that will alter and change the way their family celebrates by doing things like opening all the presents for the kids and leaving them in a pile to attack on Christmas morning.  I don't have any issues with this as it works for some, it just isn't what we wanted.  It much more important to us that Ayden is a part of our family events where he feels accepted and welcome so when he does things like this outside of family, he will be much more comfortable.

This year really was one of the best years we've had with Ayden.  He was fussy and whiny pretty much all day on the 24th and 25th, but still did everything that was expected of him without having any temper tantrums or breakdowns.  That, and the fact he actually enjoyed opening gifts and playing with them really was amazing.   We had some bad times during the time we were gone with listening and napping (normal 4.5 year old stuff) but overall I think he really enjoyed everything.

Today, of course, both kids are exhausted.  (So are mom and dad!)  But as I take time to reflect on the strides Ayden has made since last Christmas - I remember that all that we push him to do is so very worth it.

I think my biggest joy of the past few days is that Ayden (and Issac) are finally starting to show us that they understand we expect them to be more well behaved away from home than at home. It was just a few small instances, but it was enough to warm my heart.

For those other FX families that had a more trying holiday season....know that it does get better.  And most importantly, know that the holidays aren't always something to dread.

I'd like to end here with a few pictures.  We don't get tons of good ones since the boys hate sitting still, but these are some of my favorites.

Read More...

Minocycline Trial

We received a nice call a few weeks ago asking to enter Ayden into a clinical trial at the Mind Institute.  It turned out that he actually surpassed the age limit on the trial between sign-up and when they would be actually doing the testing, so we couldn't get him into that specific trial.  It is all seeming to work out though, as the same person was running that trial as is running the upcoming Minocycline trial!  She was very kind, and informed me that Ayden would for sure get into the Minocycline trial, to which enrollment would be happening mid-October. 

What does this mean for us?  Most importantly, Ayden will be seen at the Mind Institute and have a visit with Dr Hagerman.  For those reading that haven't heard of Dr Hagerman...she's basically the leading expert in the world on Fragile X.  (No, you did not read that incorrectly - I did say world).  Of course, this would also put Ayden on Mino, which is something Mr Awesome and I are actually hoping will help him out a decent amount. 

The tricky part to all of this?  We have to either fit in a visit to California before the end of the year, or wait until after the baby comes and go after that.  I think waiting will more than likely be the most beneficial, especially as we should have the baby tested by that point in time, but much will depend on what they want to do at the Mind Institute.

Read More...

Oh, how far he's come!

I finally got the pictures off my camera from our visit to Grandad and Nana's house back in August.  I was more than happy about how they turned out, as I really captured so many of the things that mean so much for me to see.  It's amazing to me exactly how far Ayden really has come even just looking back at these pictures.  From actually playing, to running around in the grass, to picking up and holding a tennis ball, petting a dog, and even standing patiently while watching the car cruise with the family.  You'll notice how none of these pictures include tears or sadness, and it's important (at least for me) to note those pictures weren't left out or not taken - this was Ayden pure and simple.  Happy.  Excited.  Enjoying summer.

Read More...

Annual Visit to Nana & Grandad's House

As I mentioned last week, we had a very good time visiting my parent's house with the boys a few weeks back.  I know changing locations and not having Daddy around is always difficult on Ayden, but he really did very well.  We had a couple of very exciting things that really may be a highlight for me when thinking about Ayden and his progress this summer.

First,we attended our hometown summer fest.  To say this is sensory overload for Ayden may be a small understatement.  Loud music, lots of people, high noise levels....it's one of those types of things we usually avoid with Ayden because often times it ends in a lot of screaming and meltdowns!  We decided to try it this year though.  I know, I know...you other FX moms are cringing right now knowing what this usually leads to.  We had a decent location since my parents are directly across the street from downtown, so it was easy to just leave if it got to be too much.   We did our "trial run" before the BIG show on Saturday with the waterball tournament.  Waterball is kind of like tug of war, but you have a ball on a string that you shoot with a fire hose to get to the other team's "goal".  It's a lot of spraying water...and since both the kids love that I figured it'd be a good mix even wth the crowds and noise.   I was not disappointed!  Ayden did FANTASTIC walking over just holding my hand and enjoying the water/spray in-spite of the large crowd and dogs around us.  The best part of the whole thing was he came up to me and told me he was all done!  He signed all done, then asked to be picked up.  We pushed him a bit after that so little brother could look at race cars and the train on the way home, which did cause some screaming, but overall it was a big WOW for us and such a huge improvement for Ayden.  Saturday went much the same while we walked the car show, except Ayden sat on daddy's shoulders and just relaxed and had a good time.  I was so happy and proud of him!!

Second, I should explain with this next one that Ayden has some severe texture issues.  By severe texture issues, I mean he has a difficult time even walking down a sidewalk that changes from cement to brick.  Walking on grass has not even been an option until just recently, and even then it's with a specific purpose like "I'm getting my toy".  He also has issues with things he touches, such as tennis balls, play-doh, etc.  Anything different really.  We have to work a long time to get him touching other objects that don't fall into his normal everyday textures.   The other thing he's had a problem with is dogs.  He had a dog scare him when he was about 18 months old and since then it's like been a lot of meltdowns for him to even see a dog.  This has slowly been improving thanks to a couple dogs, namely my parents and our friend's dog who are both very well trained and great with the kids.  So, how is this all relevant?  Ayden, multiple times over the time we were at my parent's house went outside, on the grass, and was throwing a tennis ball around to their dog which he then chased around.  And he was smiling.  And having FUN.  Without being prompted.  It seems like such a simple thing, but it is HUGE with Ayden.  Just one of those things would be a big step for him, but all together....it was amazing to watch.  He even picked up the tennis ball when it was slobbery.

He just did so well the entire time we were there.  I love that we are finding that balance for him and being able to go out and for him to enjoy himself.  Watching him be anxious and scared of things most kids enjoy has always been so difficult on us, but now we're enjoying each second that he improves.

I do have some fantastic pictures to share, and will post them later on.  I haven't even had a chance to pull them off my camera we've just been so busy.

Read More...

An Early Summer Update

I've been so busy with having two kids home and just life in general, that I really haven't been posting much about Ayden.  Since the focus of this IS about him...well, here's my update for the summer thus far.

Summer-time Adjustments - Ayden has been out of school a few weeks now, and is starting to adjust a bit.  The first week was pretty terrible with a lot of whining and crying.  I wish we had time for him to grasp social stories a little before school was out so I could have helped him in that aspect; however, we can only work with what we have.  We have the usual problems between him and Issac amplified which really just amounts to more fighting and in Ayden's case, pushing.  We are very consistent with discipline when Ayden pushes Issac, but nothing is starting to click.  I am hoping that it will just fall into place one day but until then we keep on doing what we're doing and avoiding letting them anywhere near steps/stairs/drop-offs etc. I am extremely thankful that this pushing does not extend to anyone else.

PECS - We have consistently had Ayden at Phase II of PECS for a few weeks, and will be starting to implement Phase III this coming week.  I'm so excited about this as we really get into the "meat" in Phase III where he now should be able to distinguish between the different cards.   I am hoping to be through Phase III by August - so by the time school starts we will have been working in Phase IV for at least a month.

Eating: -  Always a tough spot with Ayden.  He loves eating, but is pretty picky about what and how he eats.  He still pretty much refuses to use silverware, which does make our life a bit more difficult.  He can use it, but not very well, which is why I think he prefers not to.  Right now, his hands are much more efficient at stuffing food into his mouth.  We have introduced two new meals in the past week for lunch times, which is very exciting in our house! I started out by trying mac&cheese with hot dogs, and it was a huge hit.  I was very surprised Ayden ate it, he's never really touched it when I've tried before.  The other meal I successfully introduced was Spaghettios.  Ayden rarely eats anything with tomatoes, so the fact he chowed this stuff down was a pretty big deal.  We've had each meal twice since our first introduction, and each time has been a success.  Of course, we are still continuing to have the kids eating the same thing as us for dinner, but the addition of two new meals to their normal waffles/pancakes/sandwiches for their lunches make my life a lot easier.

Potty Training - I think this is my own personal nightmare with Ayden.  We are trying again this week, and it has been a failure so far (we are only on day 2).  He is showing interest since little brother is now potty trained, but he is very adamant about not going on the potty to the point where I put him on there, ask him if he can go pee and he vehemently shakes his head no.  He drank three cups of liquid and held it for about 5 hours until I put his diaper on for nap time.  I'll keep working this week, and see where we are then.  If he just isn't getting it, we'll be putting it on pause until after our camping trip in mid-July.  I would really like to see him potty trained by the time school starts, but realize that it may not be possible.

Traveling - We have done a fair amount of traveling already this summer, and thankfully Ayden has handled it well.  It's always a bit disorienting for him at first, but he is doing much better than he did last summer.  Over the coming weeks we will have multiple out-of-town trips, including one to a place he has never been with a decent amount of people he doesn't know.  It should be interesting to see how he handles it; though I will be doing my best to help explain to him what is happening - it is just the type of situation he normally melts down in. 

Well, that is everything for now.  I will be doing my best to keep updating over the next few weeks even with our vacations and such.  We will have the iPad sometime this week - so it may be a little easier for me to update away from home!

Read More...