Feeling Frustrated

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

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

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

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

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

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

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Update on the Family Part 2: Emmalina

I was looking back over posts to figure out when my last update on Emma was, and found most of my recent posts had been about STX209.  So we'll start fresh today!

Emma will be two in about 2.5 weeks.  As you know from reading previously, we have had her in early intervention since about 6 weeks old.  She started with just physcial therapy and a general developmental specialist.  At 10 months we added in speech therapy and dropped physical therapy.  Now, at 23 months old we are doing one final evaluation for some sensory issues with an occupational therapist and as long as everything is fine we will be dropping all services.

Needless to say, developmentally, Emma is doing fantastic.  I don't know her exact age ranges for all the different areas but for speech she is around 24-26 months.  Her vocabulary is huge right now and she is making small sentences.  We are having her fine motor checked out with the OT coming, but while that is lagging a little right now I believe this is just due to her language exploding.  She has consistantly been ahead in one area and a little behind in one then will catch up in a month or two.  It almost always worries me, but she always catches right back up.

Our areas that have small concerns are sensory and anxiety.  She very obviously has sensory issues, but I'm not sure how severe they are.  (the reason I am bringing an OT in).  They manifest very differently than Ayden's issues.  He has tactile defensiveness, but also craves deep pressure. Emma does not like deep pressure and often will crave vestibular input (like spinning in circles, rocking in a chair, or hanging upside-down).  She doesn't want these all the time, but you can tell when she is upset she asks for those things.  She has aversions to loud noises like the vacuum and the food processor too.  The other difference between her and Ayden is that she fights and often overcomes any aversions she has.  We had to teach Ayden to calm himself and help himself work through (which he still does not do well) but she understands on some level how to do it.  All these sensory things are tied to anxiety as well.  She presents as very shy, but I can tell it is more anxiety of going up to a person.  For example, we can tell her to go hug someone and she will hang back and act as though she can't walk forward until they put their arms out - then she runs into them.  She doesn't talk much around people she isn't around often either.   All of these things I mention can be typical kid things, but together and because she does have Fragile X I believe they are more.  What I'm not sure of is if she needs any therapy to help with it.

In the coming month we will have an OT evaluation from EarlyOn, then she will have a full evaluation at our 24 month visit to UNC and also her evaluation from the team at USC (two research studies we are involved in from when she was 6 months old).  We also will be getting her FXS test redone with the more sensitive testing to find out her AGG repeats and methylation percentage.  The new test is part of one of the research studies (I will also be re-tested).  For now, it is nothing more than good information - but going forward (into family planning years) it will be good for her to have.  You can look for updates on all of our research studies over the next few months.

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I Wish I was in Italy*

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

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

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

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

But then....

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

Because I have him.

And them.

And them.

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

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

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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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USC Infant Study

We happen to be one of the rare families that knows about our infant's Fragile X diagnosis at birth.  With that, brings research opportunities.  We found out about the USC study through our contact at the UNC study.  This study has three visits, two of which are completed at our home and one completed on-site at USC.  The first visit was completed at 9 months, I don't think I even did a post about it as it was right in the middle of Thanksgiving and the Arbaclofen (STX209) blind trial with Ayden.

This visit was much the same as that one.  We flew into Columbia last Friday. It was just Emma and myself going, and she was on my lap for the flight.  We made it with no issues, despite the fact we flew out in the middle of a snow storm and had a connecting flight to catch.  When we arrived in Columbia, we started almost immediately with minor issues. The rental car place did not have a rear-facing toddler seat, and Emma is just not big enough to forward face yet. We ended up finding a rear facing infant seat that fit her weight at least but did not have the latch belt with it.  I'm okay using the belt to strap in car seats, so we just went with that. (a choice I was regretting the next day) I was tired and hungry and really just wanted to get to the hotel before it was too dark out.  I hate driving...and it was raining which is double yuck for me.  It's one of the many reasons Mr Awesome and I make a great team, because he prefers to drive.  I did make it there okay, even with a stop at the store to pick up food for Emma.

Saturday morning, we headed out to the assessments   I know that two different assessments (Vineland and Mullins) are completed as well as other things but I honestly can't even detail those [other things] out.  It's a minor detail, as it is mostly just play for Emma.  We then did an EEG with her, which she was not at all fond of.  It was a super simple morning and everything went without a hitch in regards to the study.  As expected, the entire team was a pleasure to work with.  Little Emma was entirely worn out though.  The poor thing ended up falling asleep almost sitting up and slept about 4 hours that afternoon.  Which, turned out to be a good thing....

As we were leaving the first set of assessments, the base of the infant seat lifted out of the seat belt.  They most certainly are not supposed to do that...  I know I had hooked it in tight, so I tried again and this time couldn't get it to tighten down.  The seat belt just kept pulling loose and not "locking" as they normally do when you tighten a seat in.  I tried with each belt in the back and had the same issue.  Thankfully, we had nothing more to do that afternoon because we had to wait almost 3 hours for the rental company to not just bring us a car seat with latch on it...but instead of switching out the car seat they switched out the vehicle.  They just kept telling me "we don't do that" when I explained I needed a new seat.  I was stuck at the hotel, unable to go to the rental car site and do it myself being alone with Emma and a car seat that didn't hook in.  So, we did the vehicle switch.  Of course there was no SUV available (I was in a Chevy Captiva - very awesome vehicle) so they instead brought out a Dodge Avenger.  At least the seat belts worked...but seriously not a car I ever wanted to drive.

Minus the afternoon, I really had a fantastic time.  I was able to meet my cousin and Aunt for a nice dinner at Olive Garden.  I hadn't seen them in around 20 years, it was so nice to catch up and meet her boys (who also both have Fragile X).  It was the first time I'd been around older kids with FXS, and they really were just so sweet and happy.  I try so hard not to think about where Ayden will be however many years from now because it can be scary for me and just overwhelming.  I know it was so much work that was done to get her boys to that point, but the future seems a little less scary to me now.

I'll write more about the rest of our trip later...

If you have an infant or know someone with an infant with a premutation or full mutation of Fragile X, 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.  The same group is also looking for male adolescents (ages 15-22) for a study as well. 

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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.  

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Happy New Year!

2012 was a great year for us.  While every year has its' ups and downs, this one had some very UP highlights for our family.  Most notably, Miss Emma joined our family.

There are many other things I can highlight, but I just decided to use pictures to tell our story this year instead.  I hope the next year is just as memorable.

As most others, I do make resolutions for the new year.  I read an article this year that talked about how 46% of New Year resolutions are kept and outlined different things that would ensure success with keeping your resolution. 

1)  Be prepared to actually make the change you are resolving to do instead of just making a resolution for the sake of it being the new year and everyone else is doing it.

2)  Make a resolution that is measurable.  For example, saying "I will eat less junk food" is vague while saying "I will only eat one candy bar per week" is something measurable.

3)  Have someone to help hold you accountable.  Most resolutions that fail do so by the 6 week mark.  Having encouragement to keep going is a good way to stick to your changes.

This year, I only have one resolution and it's not so much a resolution as it is a project.  My project is centered around a few things.  First, I have a difficult time following through on things I want to do or plan to do.  I recognize that in myself but have always been unsure how to change it.  Everytime I try to, something else tends to not get followed through on.  Second, I also want to make sure I'm taking time for myself this year.  I tend to get lost in the role of mother and wife all too often and forget that in order to be the best I can in those roles I need to also remember to take care of ME. 

With those things in mind, I have decided to take part in a year-long project called Project 365.  It's very simple in the fact you take one picture each day for an entire year.  I have setup a Flickr photostream specifically to follow my progress through the year.  I'm very excited to not only work on my photography, but have something to show for it at the end of the year!  Look for weekly (Tuesday) posts with my photos from the week and to my photostream each day (located on the side of this blog) to see what I'm doing daily.

Happy New Year!  Here's to a great 2013.  

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The Moment

I have this moment that I remember very clearly from when Ayden was an infant...  We were helping my younger sister move from her apartment, and I had offered to take my niece (my older sister's daughter) overnight.  Her and Ayden are about five weeks apart.  So I'm sitting there in this apartment filled with boxes while the guys are packing up and playing with my niece and Ayden when I clapped and said "yay!" for something she did and she looked at me and clapped right back.  It wasn't something new for her, but it was the first time I had seen it.  It was in that moment that I remember clearly knowing that all those little things I had worried about the past few months with Ayden were a problem.  The moment I was sure something was wrong despite the fact I kept being told his development was normal by doctors, friends, and family.  I waited another year and a half from that point until Ayden clapped the first time.  So, I'm a little...sensitive....to the whole clapping issue.

I started trying to get Issac to clap when he was just three months old.  He finally did it around six or seven months and I breathed a huge sigh of relief.   I still remember the exact moment he did it.  I started crying and he just looked at me, then he started to cry too - which of course made me laugh.  I'm sure he'll love this story when he's older.

Then there is Miss Emma... as with Issac, I started working on clapping with Emma very early knowing with Fragile X we were looking at the possibility of some large hurdles in the fine motor skills area.  When she was around six months old, I received a video of one of my good friend's daughter (who is just a week or so older than Emma) clapping away.  I think my heart broke into about a million pieces when I watched it.  It was that surreal feeling of being so incredibly happy for your friend and so devastated for yourself at the same time.  I just struggle with this diagnosis so much still, and the fact that Emma is developing normally thus far is amazing but I am still waiting for delays with each milestone.  I'm so afraid to be excited and enjoy this time because if we do start seeing delays it will be like she is being diagnosed all over again.  There are parts of this life with Fragile X that are not easy and can easily consume - and this is one of them for me.

But despite my ramblings of my crazy issues with clapping, this story is not one with a sad ending.  On Christmas Eve Emma decided that she would clap for us.  She was just sitting there and got excited and clapped like she had been doing it forever.  Two tiny hands, helping to heal a wound on my heart from long ago and one Christmas made just a little bit brighter.

Edited:  Added a short video, it's about all I can get her to do when I'm recording!

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The Blankie Disaster

I started sewing around the time I was pregnant with Issac and his blanket (which he still carries around) was the first one I made.  I easily fell in love with it - sewing that is - for the same reason I love cooking from scratch.  So much love and care goes into the process and the finished product is tangible.   It's also relaxing and just fun to do.  I've since made quite a few baby blankets, but none I was so proud of or so much in love with as my baby girl's blanket.

I thought I would be smart this time and make two blankets since my kids seem to attach to blankets a lot. (I actually learned from speaking with other FX parents that most Fragile X kids are pretty clingy to their blankets too..fun fact!)  I made almost matching blankets, which in the end turned out not to be as helpful as imagined.  Each one had the same print on one side and the opposite side was either pink or brown.

It actually turned out not to be the smartest of ideas.  I ended up liking the pink one the best, and so did Miss Emma.  When she was born, her blanket was the first thing of hers she was put in.  Almost every single picture of her at the hospital has her wrapped lovingly in her blanket from Mommy.

  

At home has been no different.  Until she started sitting up almost every single snapped picture of her has been with her blankie.  Every time I rocked her and cuddled her to calm her down through her episodes of night-time screaming that lasted for months she was cuddled up with her blankie.   It was never far from her side.  

Then a week or so ago, we were at the doctor's office.  Ayden wasn't feeling well and attempting to throw himself on the ground in the parking lot.  It was just me with the three kids and somewhere between the pediatrician's office and the van Emma's blankie disappeared.  I didn't notice until we were at our next stop getting out of the van.  I went back.  A very nice woman had found the blanket and brought it into my pediatrician's office which is a room in a larger building.  They told her to put it on the bench in the hallway not knowing it was ours.  I know it was placed there because other people in the building saw it there.  However, in the five minutes or so that passed between this nice woman placing the blanket there and me returning, someone picked up her blanket and took it.  I gave each office in the building my contact information hoping whomever took it would find a way to get it to the building manager.  It has been almost two weeks now, and it hasn't turned up so I can only assume it will not.  I am utterly devastated.  I can't even talk about it without welling up with tears.  I know we have the brown one, but it isn't the one she loves.  It's not the one she cuddled with.  The worst part about all of it is that it's my fault.  If I just would have been handling everything going on with Ayden a little better and paid a little more attention I would have noticed it was missing before we left.  I can only hope the person that took her blanket needed it and that some little girl somewhere is a little warmer and a little happier because of it.

While it isn't exactly a happy ending - I am very thankful that the fabric store still carries the snuggle print I made her blanket from.  Yesterday I was able to sit down and work on this:

Then later that day, my fussy little girl was reunited with her very special blankie.  While she will not realize it's any different, I still will know. But...I am happy my little girl has her favorite blankie back.

This time, we have a backup that is pink.  

Just in case.

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Happy 8 Months, Emmalina!

I've been really terrible about doing monthly posts for Emma.  I think in some ways I'm still coming to terms with the fact she has Fragile X.  It seems an odd thing to say because we've always known it was possible and have known for sure since she was less than a month old.  More so than with the other kids, we were totally aware of what having a child affected with Fragile X could mean.  Regardless, every day with her is a reason to celebrate.  I worry and stress about her development, but constantly remind myself that we are doing all we can.

This past week, we celebrated 8 months with Miss Emma.  She's getting big so quickly!  This age is so much fun though.  Her personality is really beginning to emerge.  I cannot say enough how much of a handful this girl is going to be!  Developmentally speaking, she is still testing into her age range in all areas.  Being as overly worrisome as I am about her though, I'm seeing red flags in Expressive Language and Gross Motor.  I try so hard not to compare her to others her age, but she's not crawling yet and still struggles rolling from back to belly on her left side (though she can do it).  She also is not using any consonant-vowel sounds as of yet.  (ma-ma, da-da, ba-ba type of sounds).  Even with those areas though, she is still testing fine.  Our PT reassured me that without a diagnosis she would not concerned at all, but mama bear still worries of course!

I do want to touch on language a bit more.  When we go through assessments/evaluations some of them rate expressive and receptive language separately and some evaluations rate them together.  The one our PT uses rates them together.  That being said, it puts Emma in the 7-10 month scattered category for expressive language and solid 7-10 months for receptive language with 10-12 month scattered if they were measured separately   It is normal development for children to have receptive language come first; however, when I see receptive language progressing and expressive not following quickly (though still progressing) it is very close to what we see with Ayden and honestly, it scares me.

Despite my worries, I am soaking up every minute I have with this little girl.  The first year goes so quickly and I know I won't ever have a baby in the house to cuddle again.

Happy 8 Months, Emmalina!

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Fragile X Infant Study / NC Trip

In late August, we packed up the family and headed down to North Carolina - UNC specifically - for Emma to participate in the first part of a longitudinal research study for infants with Fragile X. (More on the travelling in a bit!)   She will have visits at 6 months, 12 months, and 24 months where she will undergo an MRI and developmental assessment.  The MRI takes place while sleeping, and the developmental assessment is very straightforward - especially for those of us that have gone through them for older siblings before!  Emma did fantastic with the MRI which was the only portion I was worried about at all.  Those machines are loud, and sleeping through them seemed near impossible; however, she made it through the entire MRI only waking up one time and going back to sleep fairly quickly.

We haven't received all the information back from the developmental assessment, but the summary looks very good.  Emma is where she needs to be in all areas developmentally.  At 6 months old, this is a huge relief.  I don't remember seeing delays with Ayden until around 7-8 months, so hopefully the next few months will keep her on track as well.  I still have a couple areas that are a concern to me even with her testing coming out fine.  I am praying those areas continue to progress though and the difference I see are just due to different kids developing differently.

As for the study, you can learn more about it here if you are interested.  If you are a Fragile X carrier and either expecting or have an infant under 6 months with Fragile X you really should look into this study.

Now, back to the travelling.  When I say we packed up the family I mean we packed them up, drove to Detroit, and then flew to North Carolina.  On a plane.  To say we were a bit nervous about flying with a 5 year old, 3 year old, and 6 month old might be an understatement.  Especially with Ayden.  We did our best to explain what would happen, trying not to explain too far in advance, and then hoped for the best.  As usual, my children never cease to amaze me.  After getting up early, riding almost two hours to the airport, riding in a shuttle, fighting crowds, and going through security -- ALL of the kids were meltdown-free through the entire flight.  Ayden was most excited when we took off.   Both him and Issac were just staring out the window.  After that, it was just like a car ride to them.  We landed with just as much ease, hauled them through another airport and into the rental van then finally to the hotel.  By this time it was far past lunch time.  We grabbed a bite to eat and then took a nap before heading to dinner out and Emma's MRI.   Our first day of travel, which is exhausting to me again just typing it - had us returning to our hotel around 11pm where all of us crashed. But we were meltdown free the entire day!

The next two days were not nearly as good - but for as much as we pushed the kids I couldn't really ask for much more than they gave.  Ayden especially did such an amazing job trying to be good and not whine.  I watched him teeter on the edge of meltdown a few times and bring himself back.  We did have a fantastic time, but it was infinitely exhausting.

The highlights of the trip were definitely meeting the wonderful team at UNC working on the study (I won't name their names here...but there are only two of them!) and how amazing everyone was that we encountered while travelling.  I can't even count the number of times we were told how polite and well-behaved our kids were.  One couple even told us we made travelling with three kids look easy (HA!).  It wasn't just the positive comments either - friendly faces, smiling, being polite.  We honestly never had one person shoot us a dirty look or look at us like we were inconviencing them.

All in all, it was a very successful trip - for a very good cause.

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Therapy Wins

We had our bi-weekly physical therapy appointment for Emma yesterday.  It's pretty awesome to hear at the end that she is doing fantastic.  As of 3.5 months, she is still meeting or exceeding all of her developmental milestones.  It's also a big relief.

Each appointment we've had has brought with it a new problem or issue to work on and we've just taken each thing in stride.  But now she's rolling over (tummy to back), enjoying tummy time, smiling, cooing, and just all around doing amazing.  Our PT went over each thing she should have accomplished by 3-4 months - and she's done them all.  She's actually even mastered quite a few of the milestones in the 4-5 month category.  We still have things to work on such as the high tone in her trunk/legs and the fact she extends quite a bit, but these are minor issues and are correcting themselves as we work with her and she grows.

I honestly am so glad we were assigned an amazing physical therapist for Emma.  I can't even begin to explain how much better everything feels when you have people working with your kids that truly care and just go over and above for you.  Ayden's occupational therapist was one of those people, and Emma's PT is one as well.

On another note...we'll be attending Ayden's IEP tomorrow so look for an update regarding him soon!

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Physical Therapy

Emma started physical therapy yesterday.  I am having a hard time wrapping my head around the fact another of my kids is in therapy, but I know it is for the best.  Our PT is pretty awesome.  I really liked her from the start, and after our first session I like her even more.

We started Emma on some exercises to loosen her legs and trunk area where she is having high tone issues.  It's not terrible, but the exercises do help.  We do a few reps after each diaper change (though I may start before so we don't have so many poops in a clean diaper!)  Just the few times we did them yesterday had me noticing an improvement in her flexibility.  This morning was a definite improvement in just 24 hours.  Plus, she loves it, of course it's just play time to her!  So we continue...and hope her high tone gets better and will not be the cause of any developmental delays.

The other thing we talked about was different ways to work on tummy time and getting rid of her preference to look to the right.  Mostly we just need to encourage her to use her left side and stay off the back of her head as much as possible.  I'm sure it will work out, it's just frustrating to have yet another thing.

The PT did do a full check of her neck as well.  I was a bit concerned with her tummy time hate that maybe she was a little tight there too.  Of course my concern was for nothing.  She has full range of motion in her head/neck area and isn't tight at all.

We also talked a little yesterday about this shaking that Emma started doing as well.  I noticed it probably last weekend the first time.  When we sit her up, either supporting her or in her bumbo her head and/or hands shake.  She's completely responsive and has no change in demeanor, plus the movement is not rhythmic so it isn't a seizure; however, it is something we need to watch.  I was glad the PT saw it happen and it wasn't just me explaining it to her.  Most likely it is just her developing and using her new muscles more which is common in babies.  It has only happened when she's doing things that are difficult for her such as sitting or holding up her head/moving it around.  I'm beginning to track it though just in case and will probably get it on video as well - again just in case.  Things like this can be neurological problems like seizures or tremors, but they can also be normal. (such a wide range!)  By tracking we'll know if there is a pattern or if we see an increase in frequency or duration.  No matter what, we'll definitely be bringing it up with the pediatrician at her next visit.

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EarlyOn - Take 2!

I couldn't help but have flashbacks back to 2009 as I was waiting for the EarlyOn team to come and do Emmalina's initial EarlyOn evaluation and IFSP.  I tried not to think about it much, but those were some rough times for this mom.  For me, our Fragile X diagnosis came during those initial evaluations - not in the form of a southern blot test performed two years later.  The whole process of acceptance was just out of order for me I guess.  Denial certainly came first, but by the time we had contacted EarlyOn each step in the process just made it more of a reality.  I spent much of the evaluation and early treatment for Ayden grieving and feeling guilty. By the time we actually had the genetic testing done the only thing it did was confirm a diagnosis we were already certain of and give us his count and methylation status.

I guess it's no surprise I was a little anxious this time around.  I already had a diagnosis, I knew how bad these evaluations can feel.  So it was pleasantly surprising to come away feeling like we are in a good position.

Good news is this:  Emma does not qualify for EarlyOn services based on delays.  She is actually at or advanced for every single milestone "tested".  It put my mind at ease quite a bit just to see all those boxes being checked! (some well into the 4 month categories even)

I'd say now for the bad news, but it's not bad...just not good.  Maybe 'other' news is better.  We just have a couple areas to watch.

1)  Emma has high muscle tone in her legs and trunk which can be worked through fairly easily and really is not a cause for concern, at least not yet.

2)  She also has an issue where her knees don't fully unbend.  It's slight, and usually corrects itself according to the PT - just another area to watch as she grows as well as do some exercies to help out.

3)  The last thing is kind of a couple things that are mildly related.  I noticed Emma favoring turning her head to her left side a week or so ago.  When I noticed I started trying to get her to turn to the right, but she really hates it.  Ayden had the same thing, which is probably the only reason I noticed it.  We just encouraged him to use his left side and it was better in a month or so.  She also has a nice flat spot on the back of her head, which could be related to her favoring her left side but is more than likely due to her hating tummy time.  In short, we'll be working on different ways to do tummy time (with the help of the PT) that make her not scream and cry which hopefully will help correct all three of these issues.

Overall, a very promising visit despite the few areas of concern.  We start PT 1-2 times per month beginning next Thursday.

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What Does It All Mean?

So, another FXS diagnosis...what does it mean for us?

More evaluations.  More worrying.  More watching.  More waiting.

I've only gone over Fragile X in relation to Ayden, so let me explain a bit again.  FXS is carried on the X chromosome.  Boys have one x from their moms, girls have two x - one from mom and one from dad.  So, Emmalina received dad's good x, and mom's fragile x.  Simple, right?  The complicated part is this:   with girls, they only use one x; however, their body chooses which part of what x chromosome to "deactivate" and which part to use.  So essentially she could have absolutely no signs/symptoms of FXS despite the fact she has it, but there is no way for us to know.  So we wait.  And we watch.  And if there are any delays then we'll deal with them as they come.

And then there are those pesky evaluations.  We have Emmalina's first one this week.  I'm not sure how other states work, but Michigan has this list for their EarlyOn program that essentially guarantees services until age 2 should a child have a certain diagnosis.  Fragile X is one of those diagnosis - so we started the process as soon as we found out.  Our new team will be out to go over the huge questionnaire that is the form these evaluations take at this early age, but most importantly we'll have a physical therapist coming to check her out as that is the one area I'm not familiar with in relation to FXS.

At this age, there is obviously not a lot to be worried about.  We haven't seen any delays at all, so that is very positive.  Looking back, we had a couple red flags for Ayden by 2 months such as his suck reflex and high palette. Emmalina has neither of those things and has hit her other social milestones just fine.  I will worry about her just the same, but it's comforting to know that so far we are on track.

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A New Reality

"Anyone can give up, it's the easiest thing in the world to do. But to hold it together when everyone else would understand if you fell apart, that's true strength." - Christopher Reeves


I've had days where I felt like giving up.  Where curling up and escaping life seemed much easier than getting out of bed.  I wonder why me and my family were given this genetic disorder,  a  fragile x chromosone that travels silently through generations.  A grandfather with Parkinson's.  An aunt who was unable to have children.  A sister with anxiety problems.  A cousin with autism.  Auto-immune disorders scattered throughout parents, aunts, uncles, cousins, nieces, and nephews.  A child with developmental delays.  And then a diagnosis, one that shatters the reality of so many (or at least of those who choose to acknowledge it).  The diagnosis should be a relief, an answer to the many medical issues.  Instead it turns your world upside-down and forces you to face the reality that what you expected your life (and your child's life) to be almost certainly will not come to pass.  In its place, a new reality is formed.  One that includes words like "occupational therapy", "sensory integration", and "IEP". A reality where you more than likely know more about your child's medical diagnosis than your doctor does.  A reality with more questions than answers.  A reality that is mine.

So I wake each day and make a decision to get up and face this new reality.  One that I've discovered isn't all that bad because despite the unanswered questions and despite the trials we face as a family - one thing remains:  love.

No matter what diagnosis or label or how my children's X Chromosones are built, I love them unconditionally.  I've loved them from the moment I knew of their existence and somehow I love them more each day.  They are the best of myself and Mr Awesome and they (all four of them) are why I am strong.

One year after receiving Ayden's diagnosis, I found myself yet again waiting for the same phone call - but now for my one month old daughter.  This time was different though, we had expected Ayden's to be positive - I would have been suprised if it wasn't - but I was hoping that Emmalina's results were negative.  We had no reason to think either way as she was only a month old but I was prepared for a positive result. I thought I was prepared at least.  I knew when the voice on the other end was the doctor.  Doctors don't usually call with negative results.  Turns out I wasn't prepared.

The most difficult part was being the one to give the news to Mr Awesome.  He came to me as usual to hug me when he got home and I finally broke, unable to even form the words I'd been going over in my head.  Through the tears I got out "the doctor called".  It was all I needed.  He just held me closer and let me cry for a few minutes before leading me over to our sleeping daughter and said the only thing I needed to hear: "Look at her, she's perfect.  Nothing changes that."

And so another new reality begins for us.  One that certainly gives us more questions to which only time can provide the answers.

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And Baby Girl Makes Three

We had the pleasure of welcoming our third (and final) baby last month.  Things are finally settling down, and everyone is getting used to having a newborn around again.  Baby sister is doing well, and both older brothers are very much in love.  I have some wonderful stories about the boys and how they are handling having Sissy around, but for now enjoy some pictures.

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