Wednesday, October 31, 2012

We've Begun!

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Ayden is officially enrolled in the STX 209 trial as of Monday.  If you haven't heard about STX209 (arbaclofen) then you probably haven't been reading my blog or following me on Facebook.  Here are just of few of the more recent articles.

It's difficult to not be hopeful right now.  This drug, which has been a life-changing thing for so many others is [possibly] sitting in my kitchen.  I'm doing my best to not think about the fact we may be on the placebo or not see any changes even if we are on the real thing and just focus on if we are or are not even seeing changes.  My heart is definitely filled with hope though, hope that this little pill will be able to do something for Ayden that I can't.

Our first visit had its ups and downs.  We had a long drive to get there, so Ayden was already a bit of a mess.  We started with the EKG for him and he amazingly sat very still for us!  I'm not sure how they get kids to not move for 10 seconds to get readings, but somehow he did and just smiled.  It may be the longest he has ever sat still outside of sleeping of course!

After the EKG we met with the wonderful EBK.  It was funny actually meeting her, because I have watched so many presentations and heard so much about her that I felt like I knew her already, but she of course didn't have any idea who I was.  I didn't ask for her autograph or anything though, that would have been awkward.  ;)  She asked if we knew anyone else in the trial or any of the other Michigan FX families.  It was pretty neat to hear her talking about one other FX mom in-particular and speak as highly of her as I do.  She was the first FX Mom I met after Ayden's diagnosis and not only listened and has been ever supportive and helpful but also put us into contact with the Michigan group AND the large Facebook support group - so while she may not realize it - she has a very special place in my heart.  (and when I meet her I will probably burst into tears, fair warning!)

Back to our visit though..We had to get a urine sample, which turned out to be incredibly easy.  Then our next step was the blood draw.  We knew it wouldn't be easy but it was much more difficult than expected.  Two attempts at getting his blood were met with terrifying screaming and flailing.  With a child who is extra flexible (especially in his elbow!) - it's very difficult to hold him still.  Then his veins were collapsing when they did get the needle in.  We ended up going down to the blood lab which went much better.

After that, it was just a lot of paperwork and we were given the first dose and sent on our way.   I know the next visits will be much easier and at least we have a better idea on the blood draws now when they are needed. I will keep updating as the trial continues.

Friday, October 26, 2012

Life Without the X

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I often wonder what life would be like without Fragile X.  How much easier would it be to not have to prepare so much for changes in routine or even simple things like a trip to the zoo.  I spend much of my days planning and keeping a schedule going to keep Ayden comfortable.  We learned early on that we can only push him so far before he breaks.  It's a difficult balance to keep, pushing versus comfort.  After 5 years, I usually walk that fine line pretty well, but every once in a while...well, it's not pretty when that happens.  It'd be such a relief to not have to constantly worry about it.

This is on my mind today because we have a lot of things happening right now.  On Monday, we will be taking a long drive to Chicago for our first appointment for the STX 209 trial.  It is a 4 hour drive there and back, plus the appointment itself and we're doing it with all three kids in tow.  I know it's going to be hard on Ayden (and the others) and have been dreading it.  I've been restraining myself from preparing Ayden for it because we want an accurate picture of his anxiety for the trial. I think the preparation helps my anxiety as much as his sometimes.  It's going to be rough, but we will get through it, for Ayden.  All this considered, Mr Awesome had his best friend's dad pass away unexpectedly last weekend.  The memorial service is 2.5 hours away in his hometown (where the kid's grandparents live) on Saturday.  In any typical house, this trip followed by a Monday trip to and from Chicago wouldn't be a huge deal - but it is with us.  And it sucks.  On top of all that, we also had all three kids and Mr Awesome sick this week.  Then a vomiting episode last night.  It is just so much, and it seems so unfair that things like this can affect Ayden so much.

My mind has a tendency to head down the worst road at times like this, heading to a place where I feel sorry for myself.  It's then that I take a step back and remind myself of all the things I wouldn't have if Fragile X weren't a part of our lives.  I have a five year old that still loves to cuddle me.  One that lights up any room with his smile and happy nature.  His unconditional love and happiness is amazing.  I have an ever-growing family of support and love that I never would have come in contact with had it not been for Fragile X.  A group of people that understand exactly what I mean when I say "Ayden had a meltdown in the store".  I have an understanding and compassion for children and people with special needs that I don't think I would have ever had without Fragile X in our lives.   I have a strength that I didn't know existed within me to advocate, fight, and stand up not only for my son but for anyone that can't do it for themselves.  You see, we have it a little harder than most people sometimes and I would never wish that on anyone else.  But through it all I am a better person, a person that I can be proud to be.  And I have Fragile X to thank for that.


Wednesday, October 24, 2012

CBS Detroit Most Valuable Blogger 2011

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I just found out this blog was named one of CBS Detroit Most Valuable Blogger for 2011 in the Lifestyle and Family category.  I don't know how I was nominated or anything, but was pointed toward the award from a friend.  Very exciting for a blog that only gets around 50-100 readers each post.  :)


Let's talk about the word...respect.


Well, let us just get right to the heart of this today with a picture....

...or two.

The internet is in an uproar this week about this.  At least the people I associate with.  You know, the ones who don't promote hate speech.

I've been reading articles and blog posts the past few days about these comments and just felt the need to put it in my own words.  I'm not nearly as eloquent as so many other writers on the internet, but what I say does come from the heart.  This word, is so much a part of people's vocabulary that many don't even realize the implications of using it or even think about who they may be hurting with their "joke" or "insult".  Just LOOK at the number of re-tweets and favorites in the pictures above.  It sickens me.

I'm not innocent of this either.  I had to decide to remove this word from my vocabulary.  Or attempt to, because I'm still guilty of it as well sometimes.   I'll get angry and then it will just slip out because it was just so much a part of my vocabulary.  (Wrongfully so I may add). Change has to start somewhere though, and what better place than with me.

I don't think anyone really understands why comments like "That's so r*tarded" or "Look at that r*tard" hurt so much.  The simple truth is that using this word is hate speech.  It is derogatory, offensive, and it excludes.  It puts those with intellectual disabilities [and those that care for and love them] outside your group and makes us different (in a negative way).  It is a mockery and de-humanization of people with intellectual disabilities and just as hateful as racism or sexism.

I wonder if the fallout of comments like these would be greater if Ms Coulter had used the word n*gger instead of r*tard.  Wouldn't that be a different story.  But it is the same to me.  Hate speech.  An insult directed at one person at the expense of a group.  There are words developed to demean every group of people in the world, and yet somehow while those words are whispered in shadows this one still remains acceptable to speak  to write, to publish.  Why?

I think the difference is people in those groups can stand up and say something (and DO). But in this instance - the intellectually disabled often only have their family, friends, and loved ones.  Those advocates who are willing to stand up and say NO.

This is not acceptable.
This is not okay.
This will not be tolerated.
It's not about free speech, people  It's about respect.
Show some.

Spread the word to end the word.

Update:  Elizabeth Higgins Clark posted a wonderful article about this as well.  Read it here.


Monday, October 15, 2012

Shatter the Silence

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In November of 2010, we were blessed to learn of a surprise pregnancy.  Although unplanned, our baby was not unwanted.  Our elation was short-lived; however, when I woke up to cramping less than a month after finding out.  I never imagined that I would have any problems.  I had two children, both planned pregnancies that progressed just fine.  It was apparent as the day progressed though that something was wrong.  It was a weekend, but I called our on-call doctor anyhow.  There is nothing that can be done though, and I was told to rest and come in on Monday.

We went about our weekend .  It was our Christmas shopping/tree decorating weekend and I didn't want to ruin that for the boys.  On Monday I headed to the doctor.  I had a lot of pain on my left side - sharp pain that was more than cramping.  They did an ultrasound and confirmed a miscarriage.  I knew already, but hearing it made it real.  For most, this is where the grieving and healing can begin.  For me, it really was just the beginning.

When you have a miscarriage, the doctors like to follow your hormone levels to be certain your body actually understand you are no longer pregnant.  For most, this only takes a short time.  For me, it went on much longer.  Each week I had to return to the doctor to have blood work completed.  Each week I was reminded of the loss I experienced.  Of the baby I would never hold.  I remember feeling pregnant still.  Cravings.  Nausea.  Mood swings.  I remember feeling unable to talk to anyone.  Putting a smile on my face because it didn't seem right to talk about it, especially over the holidays.

I would have been almost 14 weeks pregnant when the unthinkable happened.  I went to the bathroom as I thought I had a stomach ache but barely made it there.  I almost passed out sitting down.  The feeling got worse very quickly and I was taken to the hospital via ambulance.  The ER staff  determined I had a rupture of my left Fallopian tube and was suffering from a lot of internal bleeding.  I was rushed into surgery where my tube was removed and the bleeding stopped.  Thankfully, there was no permanent damage to the remaining tube and my body finally began returning to normal.

Through all of this I never have felt so alone.  I felt as though my body was broken and that no one could understand my pain. That no one would want to hear about it.   It took almost a year for me to even begin talking about it.  A year of being unable to think about a child I had never met without shedding tears.  Then I told someone about it and the next day was a little easier.  Every day since has been a little easier and all because a good friend of mine encouraged me to get it all out.  I wrote down every word, every feeling, everything I could remember and I sent it to her.  She didn't judge me or pity me.  She didn't pretend to have the answers or tell me it would be okay.  I don't remember the exact words she said to me because they don't matter, what does matter is she listened.  (Thank you, BB!)

October 15, is National Pregnancy and Infant Awareness Loss Remembrance Day.  Every single day, 2000 women lose a baby due to miscarriage, ectopic pregnancy, stillbirth, or infant loss in the US alone.   This day is for spreading the word about pregnancy/infant loss and raising support for those who are affected by it.

Today, I want you to know if you have experienced a pregnancy or infant loss that you are not alone.  That you need not grieve alone.  Do not be ashamed or afraid to talk about your loss.

Today, we remember.
Today, we grieve together
Today, we shatter the silence.

For more information, visit or


Friday, October 12, 2012

STX209 Trial

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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.

Thursday, October 11, 2012

Happy 8 Months, Emmalina!

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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!

Wednesday, October 10, 2012

Speech Video 10/10/2012

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I mentioned in my last post that speech was finally starting to come for Ayden.  Not in just little blurbs where we hear words and they disappear either.  We are consistently hearing words and sounds now made with purpose.  In addition to that, we are also seeing more and more attempts to communicate with both adults and peers.  And he's trying.   Some days we need to push him, but he is attempting to say words when we request him to do so and is beginning to succeed.  He still has a long road, but we're moving in the right direction.

Each week or two I'm trying to take a video of Ayden speaking.  I want to track his progress not just with him saying words but how he sounds while saying them and how quickly he can do it.  Between speech therapy at school and what we do with him at home - we are all working towards isolating sounds with him that he can make to improve his motor planning and speech.

We are currently at 14 spoken words:

Mama, Dada, Ayden, Bird(s), Bubble, Bus, Ball, Cupcake, Quack, Oink, Eagle, Apple, Car, Fish

Here is our video log from today.  He was a bit distracted, but I did get him to say them pretty decent.  I missed 'ball' and 'car' -  the rest are included.


Saturday, October 6, 2012

Parent Teacher Conferences

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Our school district is doing conferences a little different this year than normal.  The simple explanation is that the district has a lot of our elementary schools designated as Michigan Focus Schools and this is part of their action plan for 'closing the gap'.  I'm not going into the whole Focus School explanation here - but you can obviously look at the link above if you want.  The idea with the new conferences is that instead of being reactive by having conferences at report card time, we are being proactive.  The conferences consisted of us setting academic and behavioral goals for Ayden to be the focus of this semester.  We also signed a contract that spelled out what the parents and teachers were doing specifically to help the child meet these goals.  It's supposed to get parents more involved and hopefully catch any learning problems for the kids early.

I like the idea, but for us it seems redundant.  We have an IEP in place that is much more in depth than the conference goals were and we actually used and IEP goal word-for-word as one of our conference goals.

The conference did give us some time to sit down with both of Ayden's teachers though and just talk about how he was doing.  We had two conferences - one with the gen ed teacher and one with the ASD teacher (though the ASD teacher was in on both).  We do get daily updates, but face to face is always nice.  We (as always) have issues to work through with him; however, they are minimal.  He is playing well with other peers and making friends in gen ed - which is fantastic.  He is also comprehending the material they are teaching in class and for the most part outputting that comprehension as well.  His ASD teacher is phenomenal at adapting lessons to Ayden's learning style and basically just not taking any behavioral issues from him at all. She's helping gen ed to adapt their materials as well so Ayden can participate like the other kids in his class.  I'm extremely excited to see where he goes as the school year progresses.

The other person we met with was Ayden's speech teacher.  Of course, our main focus has always been speech with Ayden.  A lot of other issues he has will fall into place as his speech comes I think.  It seems likely as many of his issues get better the more he is communicating with us.  As per usual, our biggest dilemma is always figuring out whether his whining is because he doesn't want to do something or because he is anxious.  So, his speech teacher is doing amazing with him.  She is working through using PECS to request things in the classroom from not only teachers but also peers. He's already had one instance where he did request a toy from another peer, which is amazing!  On top of all that, Ayden's speech (like, actual WORDS) is starting to come.  We are up to about 10-11 words that he can say upon request.  Spontaneous use is (as expected) not happening yet - but SPEECH.  She is now working to isolate the sounds he can make so we can start practicing more.  We were hesitant about the SLP after our IEP, but I'm very impressed with her and really enjoy working with her so far (as does Ayden).

So...long, wordy post shortened:  We love Ayden's team he currently has.  They are all on-board with what we expect from him at home and are working very hard to make sure we are as consistent as possible no matter who is working with him.  It's pretty much everything we could have hoped for with where he is at right now.