Fragile X Awareness Day 2013

I've been living with Fragile X my entire life, but only been aware of it for about half of that time.  Even with 16 years of knowledge, I've only been intimately aware of exactly what Fragile X is since March 6, 2011.

Some studies indicate a prevalence of as low as 1 in 150 women are carriers of Fragile X.  It can go undetected for so long, until the day arrives that your young child finally receives an answer for their developmental delays.  Then you wonder how.  And you trace it through your family - grandparents, aunts, uncles, parents, cousins, second cousins... the blow is devastating. The guilt, the grief, the depression, wondering about your child's future...  You deal with newness of this diagnosis you've never heard of and at the same time are burdened with telling your family that they may be affected as well.  Maybe it is a pregnant sister, maybe a father who is struggling with Parkinson's type symptoms, a nephew with autism, a cousin with fertility issues, or a brother about to wed.   These things leave scars, the ones that don't heal or get better but just scab over only to have the wound reopened again when you least expect it.

We raise awareness for all of you today - the undected, yet unknown carriers.   My father, my sisters, my grandmother, my uncles, cousins, my cousin's children - those who are already living with this diagnosis.  For you, for your loved ones, and certainly for my babies.

We'd be honored if you would take the time to share this post with your family and friends today.  Please help us educate just one more person about Fragile X Syndrome this awareness day.

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A Day at the Park Fundraiser: The Scoop

You probably heard about our fundraiser happening this Sunday... named "A Day at the Park", it is the first Fragile X Awareness fundraiser event in mid-Michigan.

For those coming to this blog for the first time...  Mr Awesome and I have three children - our oldest son Ayden has a dual diagnosis of Fragile X Syndrome and Autism, while our youngest daughter Emmalina also has Fragile X Syndrome.  Our middle son, Issac is not affected by Fragile X.

Fragile X Syndrome (FXS) is the the most common genetic cause of autism and autsim spectrum disorders (ASD) as well as the most common cause of inherited intellectual impairment.  The syndrome itself is a genetic disorder caused by a mutation on the X chromosome.  When the FMR1 gene of the X chromosome becomes fully mutate, Fragile X Syndrome results.  Much like autism, fragile x syndrome is a spectrum disorder.  Language delays, cognitive and intellectual disabilities, as well as a variety of behaviorial and physical characteristics are some of the symptoms of FXS.  Each affected person can range from mild to severely affected in these areas with boys usually being more affected than girls.  You can learn more information by browsing through this blog or visiting the National Fragile X Foundation website, fragilex.org

Now that you know a little about Fragile X....onto the event!

When:   July 21, 2013 at 2:00 PM
Where:  Valhalla Park, Holt MI

Valhalla Park is located in Holt, just a few minutes south of the south Lansing Meijer.  From Meijer, follow Cedar St south until you come to Aurelius Rd, go through the intersection and then turn left onto Keller Rd (just past the CVS pharmacy) and follow that until you come to the park.

The park is one of our favorites to visit in this area.  During the event, there is much to do in the park itself....

During the summer months, a beach and swimming are the focal points of the park.  Next to this area are bathrooms and changing rooms.  Adjacent to the beach is a large, semi-wooded, picnic area and a new playground that was finished in 2009 .  Other warm weather facilities include three softball diamonds, a nature trail, and fishing areas on both the lake and the pond.   A large group picnic pavilion is also available on a rental basis.

In addition to all the features of the park, we will have the following events.  Each event has a small associated cost and all proceeds will go towards Fragile X Syndrome (this IS a fundraiser after all!)

Motorcycle Rides courtesy of Ride and Sing with Sonic Boom:  Rides will be $10 for children 8 and older. Younger children will be allowed to have a shorter, slower ride for $5 on a case-by-case basis dependant on how well they sit still and follow directions. You can read the full information packet here: http://goo.gl/Nr7yk

PLEASE NOTE: Everyone MUST wear a helmet, long pants, full shoes (no flip flops, sandals, etc) and kids must wear either a jacket or something with long sleeves. Safety first! There is a bathroom/changing area at the park to change into appropriate clothing.

Each rider will also need to sign a waiver which you can view/read ahead of time: http://goo.gl/MrjMJ

Refreshments:  We will have refreshments available at the park as well available for $1 each.  If you purchased a t-shirt you will recevied a free drink and snack ticket for each t-shirt purchased.

Art Auction:  Ryan Lee has graciously donated an additional art piece that we are auctioning off on eBay with all proceeds going to the event as well.  You can view the auction HERE.

You can view more of Ryan's work on his blog or facebook page.

Thirty-One Gifts Fundraiser:  You have from now until July 21 (day of the event) to order.  At the close of the order one random order will receive the hostess credit from the party as well.  To view a full selection of products, details and product options, view the catalog on-line at http://www.mythirtyone.com/hbrand

To shop directly for the fundraiser, go to the website above and click on the parties link then select "A Day at the Park: Fragile X Fundraiser Event".

Monetary Donation:  You can make a monetary donation the day of the event as well as online.  All donations are tax deductible.  To make an online donation, follow this link:  http://www.firstgiving.com/fundraiser/adatp

Raffle:  Raffle tickets are $2 per ticket and can be purchased the day of the event.  The raffle itself will take place at 3:00 PM under the main pavilion in the park.  You must be present or have someone there who can choose/pick up the item for you to win.  If your ticket is drawn you will have the chance to choose the item you would like.  The more tickets your purchase, the higher chance you have of your ticket being chosen sooner and you being able to select the item you want most!

Here are the raffle items we have available, you can view more information about each item by going to the facebook gallery located HERE.

All proceeds from the event will benefit the Fragile X Association of Michigan and the National Fragile X Foundation. 

FXAM is a parent-led LINKS support group of the National Fragile X Foundation and a 501(c)3 non-profit. Tax ID #56-2450171
http://www.fxam.org/

The National Fragile X Foundation is a 501(c)(3) non-profit. Tax ID #84-0960471
http://www.fragilex.org/

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Post STX209 Update

I've sat down to write this update so many times and then walked away, unable to put words down.  We are living day to day and taking each hurdle as it comes - looking at the big picture of changes is really difficult for me still.  All my time and energy have been thrown into readjusting to what has become our new normal.

We began weaning off arbaclofen and started adding racemic baclofen on June 9.  We have been off arbaclofen since June 23 and on our current dose of baclofen since June 16.  Current medication is 10mg of baclofen 3x per day.

We have seen good and bad with this change.  The best part is we have not seen much regression of language.  Ayden has actually added more words to his vocabulary in the past six weeks.  The regression is seen in how often and when he is speaking.  It's very difficult for him to initiate conversations or even simple requests now.  He has a difficult time walking into another room to say hi to someone even.  He's still able to isolate most of his sounds, when we can get him to sit still at least.

Which brings me to one of the biggest changes....focus.  Sitting still.  He quite literally cannot stop moving himself or something he is manipulating.  Sitting down to read and/or work on writing has become near impossible.  We were around 15-20 minutes right at the beginning of the summer and have now regressed to around 3-5 minutes.  It has made things very challeninging for me.  If I'm not occupying his time with productive things every single minute of the day he is stimming in some way or another.

Stimming has alos gotten much worse.  Most of Ayden's day consists of him attempting to stim in some fashion.  Spinning toys is the most prevalent of those, which is not surprising as he did it so much before.  I find it interesting with the stimming that it is actually worse than it was pre-arbaclofen.   I think this is mostly due to the fact that Ayden is older now and he's learning how to deal with these urges and anxiety he hasn't had to in months.  It's a lot to cope with, and I see this as his way of handling it.

Onto the anxiety...oh the anxiety.   It's prevalent in everything he does, everything we do.  It's taking a lot more prompting and a lot less doing 'things'.  Probably the most heartbreaking for me was to see how anxious he was when we went to the splash pad last weekend.  We made sure to go at a time that wasn't too busy, and that did seem to help.  He just couldn't run through it like he previously did.  He played with some of the things on the edges, but for the most part hung back and just watched the other kids playing.  Seeing him wanting to go do something he loves and just not being able to get his body to cooperate rips my heart in two.

We have watched fairly carefully over the past month or two and thankfully have seen a leveling out of these behaviors.  That is, they are not getting better or worse.  With this all of what we have been seeing, we decided to stop the baclofen. We don't believe it is helping him and if it is - the amount is much too small.  We've been working closely with our clinic doctor and decided to try treating his anxiety and focus for now.  Our goal is to have his medication stabilized for when school begins.  Our hope is by focusing on those two issues, we will see improvements in other areas as well.

On Monday we began the process of weaning off racemic baclofen.  The past few days were pretty horrible - it was much as I expected.  Night waking, higher anxiety, more meltdowns, totaly disregulation... the poor kid is a mess.  We will more than likely add his new medication starting next Monday when we drop his baclofen dose to 1x per day.  This is going to put us on track for around 1 month on his new medication before school begins.

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National Fragile X Awareness Month

July marks the beginning of National Fragile X Awareness Month.  Each year on my blog I've attempted to do something to raise awareness during the month on this blog.  This year, I've realized that I haven't come up with anything special and part of that is because I've been raising awareness a lot the past few months from Advocacy Day and writing letters to members of congress to helping found the STX209stories website.  It has been a good few months for raising awareness about Fragile X Syndrome!

In addition to all this, we are hosting the first mid-Michigan Fragile X Fundraiser right here in Holt this month!    I was able to secure a corproate sponsor through the help of a friend of ours as well as put together the event.  It isn't going to be huge, but we certainly are raising some money and definitely some awareness for Fragile X!  Checkout our event page here:  A Day At The Park

So..to kick off Fragile X Awareness Month and our fundraiser event month - here is a preview of the back of the t-shirts!  The t-shirts themselves will be kelly green.

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