Thursday, July 26, 2012

Prevalence and Autism

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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 an unbiased based population study of 7,000 people to estimate the prevalence of Fragile X is now 1 in 151 females and 1 in 468 males.  With this study there was signification elevation of symptoms of FXTAS and FXPOI in this study.  That information was from Dr. Masha Mailick Seltzer, PhD, Director, University of Wisconsin Waisman Center

A second study showed prevalence results of 1 in 209 female and 1 in 401 males.  This study was conducted by Flora Tassone, PhD, Research Biochemist, UC Davis MIND Institute, University of California

The previous numbers were 1 in 260 females and 1 in 800 males.

Anywhere from 2-6% of children with Autism will have FragileX Syndrome.  There is a very close relationship between FragileX and Autism at the molecular level.

Read the full press release here:

Sunday, July 22, 2012

I Am One.

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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 260 females and 1 in 800 males are carriers of the Fragile X Premutation.  Many of those carriers go undiagnosed until they have a child, niece, or nephew with a full mutation.

Has one of your grandparents or parents been diagnosed with Parkinson's?
Studies report that approximately 1/3 (33%) of all men over 50 years of age and 5%-8% of women with the Fragile X premutation will develop symptoms of FXTAS. 

Do you or any of your female relatives have fertility issues?
Approximately 20-25% of women with an FMR1 premutation will develop FXPOI. FXPOI covers a range of ovarian difficulties including early menopause, irregular menstrual cycles, infertility, sub fertility and premature ovarian failure (cessation of menstrual periods prior to age 40)

Is there a prevalence of fibromyalsia or auto-immune disorders in your family?New research is showing the prevalence of Auto-Immune disorders such as hypothyroidism and fibromyalsia in Fragile X premutation carriers.

Have one or more people in your family been diagnosed with Autism?
Fragile X Syndrome is the most common known genetic (“single gene”) cause of autism.  Autism affects 1 in 88 children and around 2-6% of those affected have Fragile X as well.

Awareness is such an important thing with Fragile X because it isn't just something that affects you - it is genetic and passed from father to daughter, mother to child.  As it's name suggests - it travels on the X chromosome and may not develop into a full blown mutation for generations.  Today, July 22, is National Fragile X Awareness Day - a perfect day to share or learn more about Fragile X.

To learn more - visit the National Fragile X Foundation, FRAXA, or the CDC.


Friday, July 13, 2012

Awareness Day: 2012

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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 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 day.I would more than appreciate your support and help raising awareness if you could go to the event and "attend". By simply attending and having the event cross your newsfeed you may be reaching even just one person who has never heard of Fragile X before. Awareness is so very important to this disorder that is among other things the #1 known genetic cause of Autism yet so many people have never even heard of it! Thank you so much to all of you who take the few minutes to do this - remember, just ONE person can make a difference and today that person could be you.

Here is a link to the public event on Facebook:

Thursday, July 12, 2012

Minocycline at Four Months

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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 he'd been without the minocycline and put it together with the emergence of these old behaviors that what we were seeing was related to not taking the medication.  Within a couple days of starting the minocycline back up the behaviors again let up.  Very good news, and certainly a reason to keep him on!

Other things I've noticed are that he is really doing well with words and small sentences.  It's hard for him, he has to really work to produce any sounds deliberately - but he does.  And OH is it music to my ears!!  So far we can get him to say Mama, Dada, Ball, Birds, Bubble, Bus, and sometimes Car.  Outside of those, he spontaneously will say Yeah!, No, and All done (but not when prompted).  That's a total of TEN words he can say!!  In addition to spoken word, he also has "signs" for yes, no, all-done, please, more, sorry, help, and play.  Many of these happening after we started minocycline.

In addition to words, he really is attempting to communicate his wants/needs more to us.  He has continually amazed me with showing us and finding new ways to tell us what he wants.  We use PECS at home, but when there is not a card for what he wants he can get very creative.  He wants to be heard, and not just to get what he wants.  You can see him wanting to join in joking more and do things to make others laugh.  It's a joy to see his personality emerging even more than it already has.

So, while the mino isn't a miracle drug, it certainly has been helpful for us.  I feel like no single therapy or medication will work by itself to help him make advances, but a few of them together.  Between school, the work we do at home, and a little help from the mino we really have made huge strides in the past four months.

Wednesday, July 11, 2012

Potty Training Update

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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 bus to school, attended school and went while there, and came home accident-free.  Now, I want to add that when I say he's trained, he isn't telling us he needs to go.  We tell him to go potty at specific times of day and he goes.  It's not perfect, but it's not diapers either.   And while he's still in diapers at night time, he makes it through the few naps he has dry as well.

Right now, we're still having some minor issues with bowel movements.  When we were sitting him on the potty quite often with the iPad or watching TV he would go if needed, but now that we're on a schedule he doesn't like to sit on the potty for extended periods of time.  He pees, claps, and is ready to go back and play.  I can't say I blame him, but since he's not having his bowel movements at the same time each day it's difficult for me to "catch".  Luckily, he makes a face when it's happening so if I'm paying attention I can get him there.  I'm sure these will lessen the longer he is diaper free, I know they did with his brother.

So..what did we do special?  Nothing really.  After he figured out how to "go" and what was expected when we sat him on the potty, it became much easier.  You can read how we started in a previous post.  I think that's the most difficult part for a kid anyhow who is learning.  I certainly feel that keeping him in underwear all day played a good part in our success.  He felt when he went, and was not happy most of the time.  I want to add that kid boxer-briefs were much more effective at him not liking the sensation of being wet because it didn't hold the mess in like a diaper does.  He was used to feeling a little wet on his butt, but having it running down his legs was what got him most of the time he had an accident.  It was messier for me to clean, but it was worth it.  The one thing I did to help with the mess was take our crib mattress pad and set that under him wherever he was.  It got washed a lot, but certainly saved my furniture from messes.

So, while I'm no expert -these are the things we did.  I hope that our experience can help someone else out there struggling with potty training too!


Friday, July 6, 2012

Five Years Ago

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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.

Happy birthday, baby mine.