Saturday, May 19, 2007

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...

Sunday, May 13, 2007

I'm 4 years old and I'm so cute!

Seriously, could he be any cuter???? I know, I'm biased and blah, blah, whatever...but c'mon, he really is just stinkin' adorable right? You know it, I know it, and I promise you he knows it!
And he uses it to make me forget about all the times I'm at the end of my patience with him.
Like the other night when he was up crying and fussing and wanting to be rocked, and wanting juice, and several rounds of fresh pull-ups till 4:30am! We finally both passed out in our(me and daddy's) bed somewhere areound 4:30. Oh but wait there's more...6:30am I wake up in a wet bed! Oh yes that's right...the little stink kept me up all night and then had the nerve to pee in my bed! Hubby's side was nice and dry, just my side he peed on. Aaargh....and then he has to go and kiss me and be sweet so I can't even get really mad...but still...grrrrr.......
Dear Fragile X Friends and Families,

Doris Buffett, president and founder of the Sunshine Lady Foundation, has donated $500,000 to FRAXA and challenged FRAXA to raise an additional $500,000 in new money by November 1, 2007. If we succeed in raising $500,000, Ms. Buffett’s foundation will match that, netting FRAXA a total of $1.5 million in new money for research!

It will be a race to the finish line, but with your help, FRAXA will have an additional $1.5 million that will go directly to research aimed at finding effective treatments and a cure for Fragile X, the leading inherited cause of mental impairment and autism.

The outlook for those affected by Fragile X is brighter than it has ever been. FRAXA’s research has identified the pathways in the brain affected by the loss of FMRP, the Fragile X protein. Our research teams have tested specific compounds in animal models of Fragile X, and the results have been remarkable. We now have several therapeutic strategies that have been proven effective in preclinical testing.

We have finally moved from identifying the problem to demonstrating that we can fix it.

In 2000, Dr. Kim Huber, a FRAXA Postdoctoral Fellow in the Brown University laboratory of Dr. Mark Bear, discovered that in Fragile X mice brains there is too much of a good thing – an excessive form of learning called Long Term Depression (LTD). Remarkably, this LTD is regulated by one class of receptor: mGluRs. Drugs (called mGluR5 antagonists) are being developed which can specifically block these receptors.

FRAXA has devoted much of its resources in the past six years to arrive at this breakthrough. We are now on the verge of the first specific treatment for Fragile X – a treatment likely to be effective for a wide range of autism spectrum disorders as well.

As we move into human trials, everything gets much more expensive. Our goal is close; the financial requirements are huge. We are working together with outstanding small pharmaceutical companies, but their resources are also limited.

Money is required every step of the way, and now we can double the dollars we raise!

We are counting on you to help deliver these treatments and a cure. Remember, every new dollar raised will be doubled by Doris Buffett’s Sunshine Lady Foundation, and our vital research will be accelerated!

Please help us raise $500,000 by November 1, 2007. Send your check in the enclosed envelope, donate online at, or call us to get a supply of envelopes and letters for your friends. Help us meet Doris Buffett’s Sunshine Lady Foundation Challenge.

Tuesday, May 8, 2007

Happy 4th Birthday Justin!

4 years, oh my gosh, how is that possible? My little buddy is growing up! A picture for each of his birthdays...will update with a new one for this year soon!

Saturday, May 5, 2007

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. :-)

Thursday, May 3, 2007

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?'