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...
Thursday, December 27, 2012
The Moment
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Wednesday, December 26, 2012
STX 209 - Update 3
I know this post is crazy overdue...but other things keep requiring my attention this holiday season. Now that it's almost over and I have a few minutes to breath..(who am I kidding there? I never have time to breathe!)My last update was in mid-November, almost six weeks ago. We have been on the "maintenance" portion of the trial for a while now. This means we have been on a steady dose of whatever level of drug (or placebo) we were assigned to in the randomization. Behaviorally..Ayden is doing okay....
Wednesday, December 19, 2012
2012 WEGO Health Activist Award Nomination
I was nominated for a 2012 Wego Health Activist Award in the Advocating for Another category. If you would please take a few minutes to "endorse" me I would greatly appreciate it. I would love to see Fragile X get more recognition, and these seems like an awesome way to do it! Anything that brings more awareness to our community is great news for all of us living with Fragile X and especially for those that are not yet diagnosed and struggling for answers. You can click on the green "Endorse Me" button...
Monday, December 17, 2012
Twenty Acts - Making Sense of a Tragedy
I've lived through so many horrible, senseless tragedies, but none that have just shattered me as this most recent one. I found myself glued to the computer and updates as the story unfolded. I read the first report of an entire kindergarten classroom unaccounted for and the tears began. Little kids, the same age as Ayden...and by all account more than likely not survivors. By now, we know this to be true. That...
Wednesday, December 5, 2012
Speech Video 12/5/2012
It has been about two months since I made the last speech video for Ayden. I sat down to make another one today. We are now at 24 words and able to isolate at least 9 sounds. Last time I did this on 10/10/12 we were only at 14 words, no sound isolation, and no attempts to imitate. You may also remember we have since that time started on the STX 209 trial (our start date was 10/29)
I have more to add about STX 209..but that will be another post. We are in the maintenance portion of the...
Thursday, November 15, 2012
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...
Tuesday, November 13, 2012
STX209 - Update 2
We are now two full weeks into the trial and have completed Visit 1, 2, and 3 out of 7 total. Our second visit (technically Visit 3 of the study because Visit 1 and Visit 2 were combined for us) took place last Friday. We were informed at that visit that if we are on a higher does, we haven't yet reached it. She didn't explain exactly, but said something to the effect of we would be at the steady dosing (not being tiered up) at the 4th visit. That is of course assuming we are not on the placebo and we are...
Tuesday, November 6, 2012
STX209 - Update 1
We are one week into the STX209 trial. The past week has been somewhat of a blur for me between the trip to Chicago (was that only last Monday?!) and all of us being sick including Ayden. After the trip on Monday and because of some stomach issues we ended up keeping Ayden out of school Tuesday. I sent him on Wednesday for his Halloween party and he did amazing. On Thursday he was back again, but after over 24 hours of no stomach issues had a terrible diarrhea accident (relapse of the sickness,...
Wednesday, October 31, 2012
We've Begun!
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. http://www.ucdmc.ucdavis.edu/publish/news/newsroom/6887http://theautismnewswire.com/NewsITems.aspx?newsID=212http://healthland.time.com/2012/09/20/the-first-drug-that-could-help-social-withdrawal-in-autism/http://www.sciencedaily.com/releases/2012/09/120919142140.htmhttp://www.npr.org/blogs/health/2012/09/20/161436289/new-experimental-drug-offers-autism-hopeIt's...
Friday, October 26, 2012
Life Without the X
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...
Wednesday, October 24, 2012
CBS Detroit Most Valuable Blogger 2011
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. :)
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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...
Monday, October 15, 2012
Shatter the Silence
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...
Friday, October 12, 2012
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...
Thursday, October 11, 2012
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...
Wednesday, October 10, 2012
Speech Video 10/10/2012
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...
Saturday, October 6, 2012
Parent Teacher Conferences
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....
Wednesday, September 12, 2012
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...
Tuesday, September 11, 2012
Remember
September 11. The day when the question you hear is "Where were you?"The day when the word "remember" echoes through our nation.As anyone who was old enough to know what was going on that day, I remember where I was when I found out. I worked technical support at an internet company and was on the phone with a customer who had flipped her TV on for her child to keep the little one occupied while I helped her out with her internet. I remember the silence, then the choice words she said - followed by "Get to a television,...
Monday, September 10, 2012
Kindergarten Week 1
We have officially completed our first week of kindergarten. Successfully. Happily. No tears.
In case you're wondering, Ayden did pretty well too. :)
If it wasn't quite obvious from my post about orientation, I was pretty impressed with our ASD room teacher. I don't know her background, but she seemed to care about the kids she has a lot from our initial visit.
Our first week impressed me even more.
The communication pages she sends home each day that she calls a work in progress are amazing....
Thursday, August 30, 2012
Kindergarten Orientation
One step closer to kindergarten... you'd think after sending Ayden to preschool for two years I'd be ready for this. It's different though. At least it feels different. I'm not really ready for it, but since when does that matter, right?Today we had the chance to see Ayden's classrooms and meet his new teachers. Yup..those are plural. If you remember from my IEP posts earlier this year - Ayden is enrolled 1/2 time in a general education classroom and 1/2 time in an ASD room. So, he has two...
Thursday, July 26, 2012
Prevalence and Autism
New Research findings were released earlier today from the Fragile X Conference including updated prevalence numbers as well as linking the Fragile X protein (FMRP1) to Autism. I don't even know what to say other than these numbers made my heart stop. On one hand, higher prevalence means higher exposure - which certainly leads to more funding for research. On the other hand, this isn't something I would ever want more people to have to live with. Here's the excerpts from the NFXF Twitter / FB feed.
From...
Sunday, July 22, 2012
I Am One.
I am one.One in 260.One in 260 women are carriers of the Fragile X Premutation. To put that a bit in perspective...the average Facebook user has 245 friends. So, there is a very high chance someone you are friends with on Facebook is a Fragile X carrier. But have you ever heard of it? Approximately one-million Americans carry the Fragile X mutation, including approximately 100,000 with Fragile X Syndrome and are at risk for developing a Fragile X-associated Disorder.Could that one be you?Approximately 1 in...
Friday, July 13, 2012
Awareness Day: 2012
July 22 is a day that is very special to me for a couple of reasons. First, it's my anniversary, and each year with Mr Awesome is certainly a reason to celebrate!! Second, it is also National Fragile X Awareness Day. For those that are paying attention...you will know that Fragile X Syndrome is a genetic disorder that I am a carrier of and two of my kids (as well as countless number of other family members) are affected by. To help raise awareness, the National Fragile X Foundation has put together a Facebook event for this...
Thursday, July 12, 2012
Minocycline at Four Months
It's been a while since I posted anything about how the Minocycline was going with Ayden. We started at the end of March and now are mid-July - almost four months in.I can say with certainty that the mino is definitely helping Ayden, just not in ways we totally expected. In the middle of June, I somehow forgot to give him his medication for an entire week. Over the course of that week we began to notice behaviors emerging that we hadn't seen in a while. It didn't click until I realized exactly how long...
Wednesday, July 11, 2012
Potty Training Update
Potty Training Update Completed! *happy dance!*That's right. We toughed it out and have a potty-trained little boy! I am following a couple other Fragile X families going through potty training this summer, and let me just say we are blessed that Ayden did so well. I hope those others begin to have success like we did soon.We started on June 16, and by June 26 we had a couple accident-free days. We successfully went rustic camping for 4 days with only ONE accident and as of yesterday he rode the...
Friday, July 6, 2012
Five Years Ago
Five years ago
My life was forever changed.
My arms were forever opened.
My heart was forever filled.
For you, my dark eyed, firstborn, perfect little boy.
You stole my heart from the first time I heard yours.
You continue to steal it with each smile, each tear, each year.
Today is your day.
Today you are five.
Today I love you.
Forever.
Happy birthday, baby mine.
...
Tuesday, June 19, 2012
Potty Training - Day 3
My last update on potty training with Ayden took place a year ago. That isn't to say we haven't been working on and off, but I haven't updated because it's been much of the same thing: Ayden holding it until we put a diaper back on him either for nap or bed time or until he can't anymore then having a meltdown because he peed everywhere.
Well, Mr Awesome and I decided we would have Ayden out of diapers during the day before he starts kindergarten in the fall. It is our only focus right now with him. In...