It sounded like a more like a crash...

So we are back from St Louis, and I can now sit long enough to type for a few minutes...oh that's another story that involves carrying laundry down hardwood stairs and and what happens when a fleece blanket gets caught under your shoe. Suffice it to say that there is a horrifyingly large and purple bruise on my backside and my left elbow and shoulder are killing me. Anyway...lesson learned - don't do laundry. Yeah...that'll work right? Ah well, hubby did take pity on me and vacuum yesterday. Oh and when hubby asked Lindsey if she heard a big bump when I fell, she responded that 'it sounded more like a crash'. Yes, well then, perhaps you should have come running to help mommy instead of me having to cry and scream and beg for you to bring me a phone so I could call daddy before I passed out from the pain, eh?


Anyway, we had a lovely time in St Louis, met some new friends and reunited with old ones. We were encouraged to hear the latest research seems to be producing good results, but unfortunately the FDA process moves slower than we would like.
I'll be busy working on how to make picture schedules in the coming weeks, and school starts this Thursday!!! J's going to kindergarten and Lindsey's going to 3rd grade - I am both excited and terrified! Lots of big changes this year and we've got a lot to think about and plan, but I think it's gonna be a good year. :)

Ok, I'm gonna go ice my butt again...lol.

Yay! We had dinner last night with friends who live here in town who also have kids with FX. We are helping them with planning an event here at the zoo for FX awareness day in July and I'm so excited about it! I'm looking forward to meeting more FX families from around the state. It really helps to talk to others who understand and know what you are going through.

It's gonna be a fun day!

Oh, and a quick funny about my little guy - apparently he doesn't like my cooking - not that I blame him...anyway, every night about dinner time he starts saying "eshturant food", so last night he starts again and I say "yes we are going to get some restaurant food" and he grabs my face, kisses it, and then proceeds to pound his chest like a little gorilla. Seriously, my cooking isn't that bad, is it? Ok, maybe it is...

How can you get mad when he's so dang cute?

So when Justin is really trying my patience, I have a habit of telling him, "son, you are CRAZY!"

Anyway, the other day I was here surfing the net(imagine that!) and he comes to get me saying something about 'messy' and leads me to the bathroom, where he has unrolled an entire roll of toilet paper and torn it to shreds and spread it all over the bathroom. It looked like a mummy exploded. So I turn around with my sternest expression on my face, and he looks up with his big blue eyes and says, "Mommy, I CWAZY!" and he giggles. And I burst into giggles too.

What a funny boy. :-)

Fragile what?

I am still amazed that I lived 30+ yrs before I ever heard of Fragile X. My brother and I both have the full mutation, and my mom is a carrier. Scott is severely affected, and mom and I both struggle with the shyness and anxiety that are common in female carriers of FX.
The first time I read about it,(when they were testing my son for it) I knew it was our answer. It explained so much in our family - described Scott perfectly, as well as the shyness in my mom and I, the flat feet, ear infections, and the early menopause my mom experienced. Why had we never heard of it?
Why have so many people never heard of it? Even doctors, when I mention it to them, don't know what it is. It is the most common inherited cause of cognitive impairment, and the most common known cause of autism. 1 in 200-300(the number varies depending on who you talk to) women are carriers. When will the day come when we don't get the response "fragile what?'

*sigh*

Holland

So here I am in Holland. I still sometimes close my eyes and picture myself in Italy. My son received his diagnosis Dec 04. Fragile X syndrome (FXS) is the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.

My world changed dramatically that day. He won't outgrow this as we had hoped. He will continue to fall more and more behind his peers. The picture painted that first day was not pretty. Today there is a glimmer of hope in some new meds soon beginning human trials, but still we are afraid to get our hopes too high. He is now approaching 4 yrs old. The younger he is when a real treatment is found the more it will benefit him. We just wait, hope, and pray that it will be soon.