Saturday, December 22, 2007

J's class made graham cracker 'gingerbread' houses Wednesday. We had fun and ate lots of m&m's. :)
We are on the final countdown to Christmas now, and praying we can get them both healthy at the same time. A week or 2 ago it was Justin and his ear infection, for which he refused to take his antibiotics, but miraculously it cleared up on his own. Tuesday we were at the pediatrician with Lindsey having bronchitis, but J checked out perfectly. Tuesday night he started coughing. Thursday night I kept checking to see if his lung was on the carpet. Thankfully he didn't actually cough it up, but it certainly sounded like it. Friday back at the pediatrician - Lindsey sounds good, Justin's full of green goo. Thankfully the ped didn't bother to write a prescription since J won't take it. He just gave him a shot of antibiotics and a shot of cortisone. That should clear him up, we hope. He seems a bit better today.
Oh, and my best Christmas present this year - good news for all of us in the FX world. They are beginning testing on 2 promising new drugs! If you haven't read about this - go to Time magazine and search fragile X - or just Google a bit and you'll find it - or let me know, and I can post the articles here. Anyway, I've already made my wish list for next year - good test results and approval for the drugs, so we can try them. :)
Anyway...I'm off to finalize my grocery list for Christmas Eve dinner and finish wrapping stuff. If I don't post again prior to Christmas - or even if I do - I wish all of you a very Merry Christmas.
Isaiah 9:6 (KJV)
For unto us a child is born, unto us a son is given: and the government shall be upon his shoulder: and his name shall be called Wonderful, Counsellor, The mighty God, The everlasting Father, The Prince of Peace.

Friday, December 7, 2007

The Elf on our Shelf

My mom sent this for the kids today. He comes with a book that tells all about him. We named our elf Ollie and sat him on the shelf. He watches over the children and every night he flies home to Santa and updates him on what's going on. The next morning he reappears in a new spot in the house and the kids have to look for him. :) I think they are really going to enjoy Ollie. We went online and registered our elf and got a note back from Santa and an Official Certificate of Elf Adoption. I had fun tonight looking around and thinking of all of the places where Ollie might appear...

Thursday, December 6, 2007

"What's shakin' mommy?"

So Justin walks in the kitchen yesterday and says, "What's shakin', mommy, what's shakin'?"
LOL Where on earth did he learn that one? What a funny boy he is.

Unfortunately the biggest thing 'shakin' is my booty. I desperately need treadmill time, I'm feeling so unhealthy. I've been fighting bronchitis for about 2 weeks now and every time I get up and try to do anything I start coughing again and it's just miserable. I've got to get over this so I can start exercising.

Rambling here...but do you ever feel like whatever you say, it's wrong? Yeah, that's me lately. I'm frustrated with myself for not being able to get my point out without stepping on toes. I'm cranky and it seems a lot of people around me are as well.

Oh forgot to update- Thanksgiving went really well. Everyone said my turkey was moist and yummy. I followed Alton Brown's instructions from the 'Good Eats' Thanksgiving special:Romancing the Bird. I brined him the night before in vegetable stock and some spices, and cooked him on 500 for 30 minutes, then covered him with foil and cooked at 350 until my thermometer hit 165.
The bonus for having it here - I got to eat leftovers for days and they were yummmmmy. :)

Sunday, December 2, 2007

We have a winner!

Well we just went through the annual tradition of dressing up the kids in their Christmas outfits, pleading with them to behave and not kill each other, and taking a thousand pics in hopes of one that is presentable for our Christmas card, and I do believe we have a winner.

Of course the fighting that went on before and after the picture are another story altogether, but we'll just go with this one - they are pretty darn cute huh?

Thursday, November 29, 2007


Every day since the beginning of school we have the same meltdown. Justin screams 'I wanna ride in daddy's car' and I wrestle him into the car while he fights, kicks, and slaps me. Daddy drives Lindsey to school because itt's on his way to work. Justin's school is in the opposite direction so I drive him. We tried switching cars - that doesn't help either - he just wants daddy, and daddy doesn't have time to go that far out of his way. You would think after 4 months of school he would get that no amount of tantrum is going to change the plan, but nope.
Anyway, once I get him in the car and start driving he screams. And he doesn't stop till we get there. He also pulls off his socks and shoes and throws them. Sometimes they hit me, sometimes they land way in the back. So I would get to school and then have to search the van for his socks and shoes in the carpool line. So I quit attempting to put shoes on him at home. Now I take his socks and shoes and put them in the floorboard out of his reach and he rides barefoot to school and we put shoes on when we get there. He's fine once we're there. One morning a few weeks ago I got to the carpool line and not only was he barefoot but Houdini had also removed his shirt - while in a 5 point harness.
So anyway yesterday was like the rest, meltdown, kicking, hitting, etc but now I also have bronchitis and I'm so not feeling up to dealing with this, but I wrestle him into the car and we ride to school. We get there and I turn around and look for the shoes and I don't see them. "Justin, where are your shoes?" - "at home". Ok, totally my fault for failing to get them, but that little turkey knew his shoes weren't in the car, and he let me drive all the way there. So, 15 minute drive home and he cries while I get his shoes, because he wants out of his carseat and wants to come in and then we drive back to school - again. Little turkey.

Tuesday, November 13, 2007

Now that I've had my daily panic attack...

So I was talking to my dad about Thanksgiving and stuff and while we were talking I could hear Zoey picking at the rug in my bedroom, so after we hung up, I went to investigate. This is what I found. I know some people think they are cute, but I have a standing rule of 'no rodents, no reptiles' in my house, and this was a flippin' reptile loose in my bedroom so I am beyond freaked out. I called hubby and he laughed while I ranted about the reptile. After Zoey finally moved it to the hardwood floor, I swept it out the front door, but not before she bit off it's tail and left it on the rug for a present. Still, for a 12 year old cat who has lived indoors all her life, she's apparently a decent hunter, so I'm proud of her for that at least.

Sunday, November 11, 2007

Countdown to Turkey Time - 11 days

Well, since we have the new house, we volunteered to host Thanksgiving this year. What was I thinking? I can't even handle a raw chicken breast without feeling nauseated and now I have to pull the innards out of a turkey? Ewwwwwww. I'm playing the FX "I have sensory issues" card and making hubby deal with that part. Ewwww, ewwww, ick.
So, anyway I'm currently glued to the Food network watching everything possible about how to cook a turkey and make gravy, which I also don't know how to do. I'm planning to brine the turkey - sounds good anyway. Good grief, I just hope I don't start a fire or give the whole family food poisoning.

Sigh, I really should be cleaning or even unpacking, but I'm just so unmotivated. Blah.

Friday, November 9, 2007


It's been a while and I need to update the pictures so here are afew recent ones. This one is one of my favorites, because it captures my kids so well. The pink shiny boots don't match and she doesn't care - they are pink and shiny and she loves them and would wear them with everything if mom let her do it. And Justin who has a 50/50 chance every time to get his shoes on the right foot and but seems to always get them wrong and walks quite happily with his shoes on the wrong feet, which makes mom a little crazy...

They had fun. My parents came over to pass out candy while we took the kids around the neighborhood. We had over 350 kids - it was crazy and fun.


Oops, sorry it's been a while hasn't it? Well since my last post we've sold our house and moved into the new one, and it's been keeping me a bit busy. We still really need rugs and art for the walls and I still have a LOT of boxes to deal with. And I volunteered to host Thanksgiving this year, and I've never cooked a turkey before, so I'm nervous. There will be somewhere between 13 and 17 people here, so it should be a fun day. :)

Justin is acutally sleeping better now. I guess giving up the nap worked, but he's a really cranky little bear in the afternoons. I finally got our ped to prescribe the med changes suggested by Dr H on our trip to the MIND Institute. The pharmacy had to order them, so I'll go pick them up today and we'll see how that goes.

I'm feeling desperately disorganized and scattered and pulled in too many directions right now with preparing for Thanksgiving and Christmas, stuff happening at school, trying to unpack, and of course deal with the constant mood swings of my 4 yr old Jekyll/Hyde boy. I find that getting time for me - to exercise, read my Bible, or just have a minute to myself - is just not happening. Of course, I've always been really good at putting me last on the list anyway. I've had some spa gift certificates for over a year now - I just can't seem to fit in a mani/pedi - how wrong is that?

So anyway, I really need to work on my time management and do things a bit better. Otherwise, life is pretty good right now. I'll try to make some time to post more often. :)

Tuesday, September 4, 2007

Home Sweet Home

We had a great trip, but it's always good to get home. 8 days in a hotel room with the kids - it's kinda tight quarters and we only had a few small toys so we were all a bit bonkers and ready to get back to normal life - well, as close to 'normal' as life ever gets for us, anyway.

Let's see, we spent 4 days at the MIND Institute. I feel like I answered a million questions at least. We had lots of parent interviews by various people. The kids and I all had IQ testing and medical histories taken among other things. Oh we also had blood draws - yikes. Mine was easy, but Lindsey was so pitiful, and Justin had to be strapped to a board - his was the worst, but he recovered much quicker than Lindsey, who I'm afraid still holds a grudge.

Lindsey also did a research study related to anxiety and Justin had speech and OT evaluations. We got lots of suggestions for med changes and IEP changes from Dr Hagerman, so we'll start working through those soon. I feel like I learned a lot, and really enjoyed meeting everyone there at MIND. We met another family from Birmingham with an adorable little 20 month old boy, who I got to keep an eye on for a while while his parents were in parent interviews. We also met a family from Dallas with 3 boys, who were staying at our same hotel, so we saw them a lot also. Everybody we met was very nice and it was just good to talk to people who totally understand.

Oh, we got pictures of the kids with Louise Gane(genetic counselor) and all of us with Dr Hagerman.
We spent Friday taking a day trip to San Francisco. None of us had ever been there before, but Justin can only take so much in a day, so it was a whirlwind tour. It was a gorgeous, sunny windy, cool day - maybe 65-70 degrees, which was amazing after being in Sac all week with temps over 100. The Bay Bridge was closed so we drove south and crossed over the San Mateo Bridge. We went to Hyde and Lombard and saw a cable car and walked down the steps a bit there(this is that really famous curvy road in SF) took lots of pics and then drove down it - twice.

We went to the Fisherman's Wharf area and walked around Ghirardelli Square, had lunch there at Lori's diner outside overlooking the bay.

We walked down along the street a bit and down to the little beach area right there. Then we came back and had hot fudge sundae's from Ghirardelli's. Justin got a toy cable car and I got a cable car Christmas ornament. We left and drove through Chinatown, and then across the Golden Gate Bridge. We stopped on the far side at a scenic overlook and took lots more pics and then walked partway back across the bridge. It was very windy up there, but the kids loved it.
Then we drove back to Sac and collapsed for the night. If we had it to do over again, we would have left our hotel in Sac and stayed closer to SF for Fri and Sat nights as the weather was so much better and there was lots to see and do there. As it was, we went Saturday to Old Sac - they were having Gold Rush Days, and it was really great - felt like we were back in an old Western movie, but miserably hot, so we all were done after only a few hours there. We did take the train ride. Justin got a cowboy hat, Lindsey got a t-shirt, they both loved the pony rides.

Justin wasn't too crazy about the cannon they kept firing. Oh and after we left, we drove to Rancho Cordova just to see a different part of town and we went to an In'N'Out Burger - don't have those back home - it was yummy!

The flights were the hardest part. Bhm to Dallas (90 min) Dallas to Sac (3 1/2 hrs), and then Sac to Houston(almost 4 hrs) and Houston to Bhm(90 min). Justin insisted on squealing, fussing, and kicking the seat in front of him and on our 2 longest flights the person in front of him was not understanding at all. The dvd player held his attention for maybe 5 minutes, so the flights were beyond draining. J and I did get bulkhead seats for our first short flight, but that was the only one.

Thursday, August 23, 2007

Long time - no blog

Oh, it's been a while since I've posted anything. Well, I've been more sleep deprived than usual. Justin had bronchitis for about 3 weeks. He's just getting over it. He's normally not a good sleeper, but try coughing every time you lay down and see what that does for you. Now I've got it too, and he wants to sleep with me, so I cough and wake him up, he coughs and wakes me up, we've just not been sleeping much. Yesterday he fell asleep at school and slept through speech therapy. He's got an extremely sensitive gag reflex and anytime we try to give him medication he empties his stomach. Not fun. So we went to the doc twice and got antibiotic shots both times and a steroid shot once.
We now own 2 houses. We are slowly moving a few things into the new house. The cats were the first to go, so at least the house we are trying to sell doesn't smell like kitty litter - yuck. So they are adjusting to the new place and we go visit every day and take a few more toys and stuff each time. I need a buyer so I can get this over with.
School has started - that helps a lot. I can get a nap occasionally. :) Lindsey is in the 2nd grade now and Justin is in pre-K. She has discovered Webkinz, so we have a new obsession. Justin still wants to watch the movie Cars every waking moment.
And we leave Sunday for Sacramento for our long awaited trip to the MIND Institute at UC Davis and Dr Hagerman, who probably knows more about FX than anybody. We are beyond excitied about it, and we just learned also that another family from our area will be there at the same time, so that's really super too - we are excited to meet them.
That's all the news I can think of...we've been a bit busy. I'm sure I'll have a ton to post after we get back. We fly out this Sunday and return the following Sunday, so say a prayer that Justin doesn't scream the whole way - lol.

Wednesday, August 1, 2007

Recent pics - just because they make me smile.

Justin was playing - driving his car on the piano...and SuperLindsey decided to try on J's Halloween costume from last year.

Sunday, July 22, 2007

FX Awareness Day fun

We had a really good day today at the zoo. Our friends Matt & Beth organized the event and we had people from all over Alabama as well as Mississippi and Atlanta. A lot of people there weren't in the picture. My family is right in the center(if you click on the pic you can see it larger - not that I need to be any larger, but that's another story, I suppose). I'm on the ground holding one end of the sign, and right behind me are Justin, Lindsey, and Tim, along with my brother, Scott.

We had ice cream and the kids colored and played together and the parents got a chance to just chat with others and meet new people dealing with the same issues, which was really nice. The t-shirts sat 'got fragile X?' on the front, and the back says '1 in 250 women and 1 in 750 men carry the gene that causes Fragile X Syndrome - find out more at'. We wore them all over the zoo and out to eat today, so at least a few people likely took note and maybe will look it up, learn more etc. We also had some great volunteers, one in research preparing to do some work on FX, one who works bringing community artists together with people with disabilites to provide art opportunities for them, a special needs teacher...they were all fantastic to come help us out.
The zoo has a water play area near where our meeting room was are the kids had fun there too.

Thursday, July 12, 2007

Ugh...the process of selling a house - bleah.'s been about 2 weeks -we've had maybe 12 showings, a few express serious interest, so we wait and see...

Mom is feeling better - not in pain so much now, but still pretty much stuck with the wheelchair for 5 more weeks. She can put no weight on the broken leg, and the other foot(with the toe surgery) she can't get into a shoe and the boot they have her wearing doesn't give her enough stabilty to use crutches. But she's in good spirits and each day is a bit better than the prior I think.

The kids were in the basement playing earlier and Justin came up with bright red marker all over the BACK of his new white shirt. And Lindsey had the nerve to look and me and claim that Justin drew on his own back! With a straight face. How dumb does she think her mommy is? She was so serious and so appalled that I would think she did it...oh, I'mm gonna have to watch this one.

Saturday, July 7, 2007

I smell like Windex and play-doh

We have an open house tomorrow - I'm tired of cleaning, so somebody buy my house so I can be a slob again. ;) I did take a little break to make play-doh flowers with Lindsey - that was fun. Of course then I had to vacuum up all the little bits of play-doh that always seem to dot the floor afterwards. *sigh*

Mom is doing a little better each day. Not so much pain now - she is off the prescription pain meds and down to regular tylenol so that is good. They are going next week while they have a post-op follow up also to her regular doc for some bloodwork to check her sugar levels to see if that is what caused her to pass out. She still basically can't put weight on either foot, so she has been pretty much confined to the recliner all week. That's certainly been a challenge as you can imagine, but the silver lining is that my dad is learning to do laundry for the first time in his life. :) I'm proud of him.

Better get to bed now...Justin is already restless and we had a long night last night waking many times and I've got to get a little sleep while I can so I can get up and finish cleaning in the morning. Oh, yay...more Windex. pfffffffffffft

Tuesday, July 3, 2007

Updat on my mom & more from my little vandal

Mom had her surgery this morning - all went well. She's in recovery, but the are having trouble getting her pain under control. The demoral isn't enough so they just gave her a couple Loritabs. Dad is driving her home later and is planning to see if he can get someone from fire rescue to come help get her up the steps into the house. The doc says she will not be able to bear any weight on that leg for for 4 weeks. Ther other foot (with the toe surgery) she can bear some weight on, but between that and the pain meds it will be a while before she can be steady on that one foot and learn to use crutches. They are going to have to get a wheelchair for her. Yesterday he was wheeling her around in his desk chair.

On a lighter note...

The blue nail polish from yesterday had me reflecting on earlier graffiti art created by my little hoodlum. And here are a few examples - the back of my dining room chair - that's Sharpie marker by the way. That's probably been 3-4 yrs ago and a sweater still hangs over the chair.
This was some art she drew on my bedroom walls, nightstand, lamp, and herself of course, along with her mugshot in front of the crime scene. I think she was 2 at the time.

Monday, July 2, 2007

My brain's too fried to think of a title...

This past Friday my mom had some minor surgery to correct a problem with a toe on her right foot. So she is hobbling around with a boot on her foot unable to bear much weight on it. This morning she woke up feeling lightheaded and in a good bit of pain, so she took some pain meds - on an empty stomach. So apparently she passed out, hit her head, and fell, in the process somewhere breaking her leg. Now they live about an hour away in a small town. Once my dad finally got her to let him call 911, the ambulance took them to the local hospital which did x-rays but they don't have an orthopedic doctor there, so they put her in the car and my dad drove her to Birmingham. Finally got an ortho who says she needs surgery, a plate and some pins. There are 2 bones there between the knee and the ankle and the smaller one(fibula, I think) is shattered and the larger is out of place somehow, and she has a torn ligament in her ankle. They have just sent them back home(an hour drive) with instructions to come back for outpatient surgery tomorrow. Dad's got some neighbors who can help carry her into the house, but they have 4 or 5 stairs at every entrance so it's not very wheelchair accesible and she can't bear weight on either foot...ugh.

So I get off the phone a few minutes ago with my dad, and decide to go see what damage my kids have done while I've been on the phone. I go into the bathroom where Lindsey is and I smell nail polish. And I see that she has painted Justin's toy car(Sally from the movie Cars, the blue porsche) with her sparkly blue nail polish. Well I lecture her about using nail polish without permission and defacing her brothers toy, and she quietly apologises and slips out of the room while I get out the polish remover and take as much of it off as I can. So then I go looking for Justin and he's in the kitchen eating a banana, but he got his back to me. And then he turns around and this is what I see:

Yep, she painted her brother blue. I had to keep my back to her and tell her to go to time out because I wanted to yell and laugh at the same time.

Saturday, June 30, 2007

I had a date last night!

Our church had a parents' night out for parents of special needs kids last night. They had pizza for the kids and they got to play games, go to the playground, watch movies...they had a great time. And hubby and I went to a real grown up restaurant with no children's menus or crayons, and had a nice relaxed dinner and never once had to tell the kids to stop kicking each other or worry about when the meltdown would start. It was heavenly. What a wonderful thing it was for them to do for us. I love my church family!

Oh and we had our first showing on our house today. It went well I think. Our agent said they want to look at it again. Also our next door neigbor said his wife's sister is looking for a house in the area(his brother lives next door to them on the other side), so that's a possibility. I'll be sad a little, this is where J has always lived and the only house Lindsey remembers, so it's a bit emotional...but I'm ready for a change.

Thursday, June 28, 2007

Recent FX news

For those who may have missed the recent news - pretty cool stuff!

Scientists eye an enzyme as target in fighting autism - Yahoo! News

and a well written blog by a retired MD discussing the recent news :
The X files: Autism’s fragile X syndrome


And tragically, it seems the Chris Benoit story has a link to FX as well. His 7 year old son, Daniel had FX. Our prayers are with that family.
Katie Clapp, founder and President of Fraxa(the FX research foundation) will appear on Inside Edition tonight to talk about Fragile X.

How sad that this is what it takes to get the attention of the media. Of course, we have to take the opportunity to get the word out and hopefully be able to help others with FX. We may never know if or how FX played into this tragedy, but we do know that having a child with special needs does create extra stress in many families. So we must continue to raise awareness and raise funds for research to find a viable treatment, and in the meantime, we just take it a day at a time and love our kids, and do the best we can.

Awesome story related to all this and a profile on the Heyman family:

Much love - L

Monday, June 25, 2007

Looks like it's gonna happen

So the house inspection went well, and we just spent the weekend trying to make our house presentable to try to sell it. I don't know how am I going to manage this with my little tornados (if you are ever looking for my kids, just follow the path of destruction).

I told Lindsey every toy she leaves out gets packed up and she'll see it again when we get to the new house.

So anyway - here's my favorite room in the new house - the screened back porch w/ ceiling fan so I can sit there in the shade and read a book and see the kids playing in the fenced backyard. I wish the furniture came with it...I need to go shopping for patio furniture soon before they sell it all - a lot of places will have it on clearance in the next few weeks I think.

Saturday, June 16, 2007

Tickled pink...

We went back today for a 2nd look at that house - That bathroom is severely pink! That is not a color I would ever agree to paint a room, but she likes it - lol.

Friday, June 15, 2007

4am...sleep? who needs sleep?

Seriously - 4am. That's what time Justin woke up yesterday and today - 4:00 on the dot. His little secret internal alarm goes off and he's done sleeping and done allowing me to sleep. He cries, yells, pulls the covers off of me and pokes me until I get up with him. And then he wants to watch "Cars" for the 4000th time.
I don't know what's up with the boy, but lately he seems to love being awake in the middle of the night. And he can't just play quietly, he either has to have a raging tantrum or watch 'Cars' - and I have to watch it with him. I'm averaging maybe 4 hrs of sleep over the last month and I'm worn to a frazzle. Still he's cute as pie and just when I'm at the end of my rope, he brings me back with a hug and a kiss and all the cuteness that is Justin.

On another subject entirely, we are still house hunting. We've also been talking about building a house and are working on the floor plan with the architect. But, a house came up for sale this week that we like a lot. It's bigger than we need, but it's really pretty. And it has a hot pink bathroom for Lindsey. Think of a flourescent hot pink highlighter - that's the color of the bathroom. Gives me a headache to look at it, but she would L-O-V-E it. We will probably go look at it again tomorrow with the kids.

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?'


Thursday, March 29, 2007


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.