Wednesday, February 11, 2009

A few more pictures...

This picture doesn't do justice to the beauty of glistening snow but i love it when the ground looks like it's covered in sparkly glitter!

Would you believe that we have frozen goldfish in our little pond beneath all this pretty white stuff? I bet they're ready for a big thaw too! lol...yes they'll start swimming again :)

I wonder what she was thinking as she looked at her world covered in white? The brightness of it all seemed to scare her a bit at first. She was shakey as she adjusted but really enjoyed herself. So much that she left my window covered in spit from raspberries. My sweet, sweet girl :)

I wanted to bundle her up and let her get out in it but she had been so sick that i didn't want to take a chance.

This is more than a week after the snow and ice hit Southern Indiana and Kentucky. Millions were without power for weeks afterward with both areas being declared States of Emergency. Trees and power lines wore thick, heavy coats of ice. Thank God, our power never failed!

Here's Emmaleigh trying to lick an icicle (though it looks like she's gonna stick it up her nose, lol)

Emmaleigh LOVES making snow angels! This was day two of our snow and ice storm at the end of January. Six inches of snow fell, followed by three inches of ice on the first day. By the next morning we had four more inches of snow and another blanket of ice. With tempertures lingering below zero, the white stuff hung around for two weeks. Good times!

Potential Pity Party....Beware

Thanks for checking to see how we’re doing. Not good, not bad sums us up lately. Karlie hasn’t been to school in three weeks. Two weeks were missed because we were snowed and iced in and we've both been sick. She still has quite a bit of mucous, choking on it in the mornings? The worst of the last few months has been the screaming though :( This makes me feel like i’m losing my mind. I can't imagine what Karlie must feel like?! I also can't help thinking back on the last time i seen her cry like this. Regression of skills is something that happens with Rett and the last time it took it's toll, Karlie was a pretty angry little girl. The thought of her losing more skills breaks my heart. I pray that's not what's happening! The picture to the left shows her exhaustion. She cried until she flopped down in her chair and just fell asleep, her face still wet from wringing her hands. Sometimes she can be in a fantastic mood, full of delirious giggles but when the screaming and hand biting starts it can last for hours. It also leaves me guessing as to if she's in pain. With no real form of communication, we're all left feeling helpless. (I promise to update on the My Tobii trial. Not as successful as i had hoped due to many circumstances.)

She has been doing pretty well with sleeping, though her days and nights have always been a little mixed up. We still give her melatonin but even that doesn't always work. Last night we were driving around at 3 am just so she would stop crying and go to sleep? Maybe that's not so unusual? I just know that i'm tired, i’m sick of having strep throat and today i’ve been a big crybaby. Sort of one of those days where once you start crying, you think of every crappy thing that’s happened in the last few months that have been out of your control. Kind of been crazy since Jon was laid off, the engine in his truck blew up, we were snowed and iced in for two solid weeks (major cabin fever), we have a $320 electric bill past due with another high one coming soon, my Grandma is in the hospital in heart failure, not to mention everyone in my house has been sick at different times....blah blah blah. Could be better, thank God it’s not worse.

Ok, ok...enough of my whining! I have soo much to be thankful for and need to focus more on the positive things. Please drop us a quick note and let us know that you're reading. My goal is to blog much more often!

Tuesday, February 10, 2009

Rett Syndrome Treatment Study

Rett Syndrome (RTT) is a neurological disorder seen almost exclusively in females. The prevalence of Rett Syndrome in females is approximately one in every 10,000 - 23,000 births and is found in all racial and ethnic groups worldwide. It is known that Rett Syndrome can occur in males but is extremely rare. It is named for Dr. Andreas Rett, an Austrian physician who identified the syndrome in 1966, although it remained unknown in the United States until 1983. Rett Syndrome symptoms generally appear in most females between 6-18 months of age. Development to that time can be somewhat normal. The child then enters a period of regression, losing the ability to speak and all purposeful hand use. Most children develop repetitive hand movements, irregular breathing, seizures, motor-control problems, heart irregularities and autistic like symptoms. A slowing of the rate of head growth also becomes apparent. Many of these symptoms are common by age four. Most researchers now agree that Rett is a developmental disorder rather than a progressive, degenerative disorder as once thought. Some symptoms may be medicated with prescription drugs but no cure or truly effective treatment currently exists. Nearly 5,000 girls and a growing number of males in the United States are waiting.

A new study appearing in the February issue of the Proceedings of the National Academies of Sciences, researchers showed that daily injections of an active fragment of IGF-1 in mice that expressed Rett-syndrome like symptoms could significantly reduce movement and respiratory irregularities. Although treated mice were not cured, the outcome is reason for optimism."This is the first realistic way for a drug-like molecule injected into the bloodstream to relieve Rett syndrome symptoms," says Whitehead Member Rudolf Jaenisch, whose lab collaborated with the lab of MIT and Picower scientist Mriganka Sur in the research.

In approximately 85% of girls with Rett syndrome, the disease is caused by loss of function of the MeCP2 gene, which is highly expressed during nerve cell maturation. Lack of MeCP2 expression impedes nerve cell growth, keeping the cells from forming projections, called spines, which are used for nerve-cell-to-nerve-cell communication. Recent genetic studies have shown that in mice with blocked MeCP2 expression, turning MeCP2 back "on" nudges the mice towards normal movement and lifespan—an indication that the disease could be reversible.Although researchers have known which gene causes the vast majority of Rett syndrome cases, they have until now been unable to promote nerve cell maturation through administration of a drug, protein, or small molecule.While researchers in Sur's lab had discovered that increased brain levels of IGF-1 promoted maturation of synapses, the connections between nerve cells that are the basis for brain functions, Emanuela Giacometti, a graduate student in Jaenisch's laboratory, was theorizing that IGF-1 might also increase the nerve cell spines in the lab's mouse model of Rett syndrome. Such mice lack the MeCP2 gene and at four to six weeks display symptoms quite similar to those in girls with Rett Syndrome, including difficulty walking, lethargy, and breathing and heart rhythm irregularities.In a collaboration with the Sur lab to test how IGF-1 might affect these mice, Giacometti administered to two-week-old Rett mice daily injections of IGF-1 fragment. At six weeks, treated mice were significantly more active, had more regular breathing, and had more normal, regular heart rhythms than did untreated mice. In addition, the brains of treated mice were heavier and showed more nerve cell spines."Although the treated mice get better and their symptoms don't progress as fast as they normally would, the treated mice still get the symptoms.

So it's definitely not a cure, but it could be a co-therapy," Giacometti says.Sur is also excited by the prospect of finding a drug treatment for Rett syndrome and other forms of autism. IGF1 is approved by the US Food and Drug Administration (FDA) to treat severe IGF-1 deficiency. "This represents a way forward towards clinical trials and a mechanism-based treatment for Rett Syndrome. We very much hope our research can offer some help for the patients who have this terrible disorder."

More information: Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice, Proceedings of the National Academy of Sciences, online February 9, 2009

Source: Whitehead Institute for Biomedical Research

Country singer Clint Black to be on "The Celebrity Apprentice" for Rett Syndrome

Beginning on Sunday March 1, 9 PM (EST/PST) and 8 PM (CST/MST) Rett syndrome is going to be getting some national attention when country music superstar Clint Black will be playing for the International Rett Syndrome Foundation on the NBC show THE CELEBRITY APPRENTICE. Clint Black and his brother Kevin (who lost his daughter, Cortney, to Rett syndrome several years ago) have been outstanding advocates and fundraisers on behalf of IRSF over the last several years. IRSF has been so grateful to them for all their hard work and generous support on our behalf! Please stay tuned to the IRSF website to learn how you can leverage this exciting, high-profile exposure about Rett syndrome to raise even more awareness in your city. We will be providing you with a mini-"How-to" guide to talking to your local TV channels and newspapers about Rett syndrome. In the meantime, start spreading the word to friends and family and colleagues about THE CELEBRITY APPRENTICE on NBC beginning March 1st.
Please join us on Karlie's Rett Syndrome Journey ~ Until we find a CURE!

~During Vital Stim Therapy~

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My photo
I am four years old. Last year i was diagnosed with Rett Syndrome. Rett is the most physically disabling neurological disorder on the Autism Spectrum. I can't speak or use my hands anymore but i'm a very happy girl and my blue eyes speak volumes! Typically, Rett only affects females and strikes between 6-18 months. Less than 4,500 girls have been diagnosed in the US but many have been missed. Currently there is NO CURE but researchers are working hard and Rett was recently reversed in mice!!! Please join us in supporting funding for a cure. Please visit and to donate. I was born healthy and developed as i should have. I could roll over, sit up, crawl, play with toys and i could even talk a little but then things started changing. My hands stopped working and i lost intrest in almost everything. Instead of laughing, i cried. My walking improved, but my words went away. I stopped playing with toys, i couldn't feed myself, i couldn't even scratch my own nose anymore. My world was changing around me. I knew it, but was helpless against it. This is my Rett Syndrome journey. Please donate $$$ to unlock my world and so many others!

~Sand between my toes~

~Emmaleigh & Karlie~