Karlie Grace

I love her sweet smile!

2009-03-21T01:06:00.006-04:00

Valentine's Day 2009

Emmaleigh was filming and didn't want her voice recorded so this is just a shot of my sweet girl enjoying the ride with a little music.

I wonder what she thinks about....

I sooo wish she could tell me!

Is my big girl ready for her big girl bed?

2009-03-18T10:42:00.003-04:00

Most nights Karlie sleeps very well in her new "big girl" bed but occasionally we find her in some pretty funny, yet worrisome positions. During the night, we put a gait across her doorway but any unsupervised time can be dangerous even in her bedroom. This is how i found her the first morning after she had slept in her new bed.
I think she rolls over in her sleep and her legs fall out of bed. Once she gets down on her knees, i don't think she's able to get back up into bed and lay down. This is a skill that's extremely hard for Karlie to manage while she's wide awake little lone half asleep.

Lately the weather here has been beautiful and we're very excited that tomorrow is the first day of Spring! We've been taking evening walks and Karlie loves being outside! Here's a pic from our walk yesterday. Happy Saint Patrick's Day!

A few more pictures...

2009-02-11T10:35:00.013-05:00

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

2009-02-11T01:29:00.006-05:00

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!

Rett Syndrome Treatment Study

2009-02-10T20:48:00.003-05:00

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

2009-02-10T20:35:00.003-05:00

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.

So many updates!

2009-01-19T09:28:00.007-05:00

I have so many updates that i hardly know where to begin. I barely blogged about December events and now January is almost over! Where does time go?! It seems like with the holiday's, Karlie's birthday, doctor visits etc....i forgot to blog. Well, honestly i didn't forget to write but i procrastinate something terrible. Speaking of which was one of my New Years resolutions, to STOP procrastinating. So, get comfy and see what we've been up to. This could take a while :)

Lately Karlie has been having a tough time at school. I'm not sure what the problem is other than she just doesn't want to be there! She tends to start screaming as soon as we pull into the parking lot and doesn't stop until we leave. She's been attending four days a week for almost three hours at a time but now she stands by the door and cries. Her therapy visits aren't any different. Last week her Physical therapist and Occupational therapist suggested that we cut down on our visits. They basically don't know what to do with her since she's so unhappy. Now we'll be seeing them on a consult basis once a month, rather than once a week. Our Speech therapist moved to Colorado in November and a replacement isn't expected until May. So in almost two years time we've went from 7-11 therapies a week down to OT and PT once a month. This is a HUGE difference that worries me with regression but I'm ready for a break too! Since tax time is around the corner, I've started adding up our deductions for travel due to therapy. Last year Karlie attended 223 therapies. That adds up to 7607 miles and I'm not finished calculating yet. I hope we'll be able to take our first family summer vacation with this unexpected money. We won't go far from home but we all need to get away and have a little fun!

Here's a pic of Karlie in her new helmet. We've been waiting for it since June so I'm just glad it's finally here. She's had so many nasty bumps on her head maybe now we can prevent a few. Three weeks ago we decided it was time for the girls to have their own bedrooms. Emmaleigh is 8 and beginning to want some privacy. It was also really unfair for her to wake up in the middle of the night because of Karlie's screaming. Both girls LOVE their new rooms and their own space. Karlie has been attentive to toys she hasn't looked at in years. Now we're looking into padding the walls so we can take her helmet off yet she can be safe in her new space. We're open to suggestions since my idea is rather pricey.

Before Emmaleigh started school we found out she had severe eye problems. Her lenses are are shifted out of place in both eyes and have probably always been that way. The concern is not only will she have to have eye surgery in the future but lens and retina detachment are common in people with Marfan Syndrome. This is a genetic connective tissue disorder. Connective tissue is all throughout our bodies so many areas can be affected. We had Em tested and she does have a mutation that is associated with the gene that causes Marfans. We don't however have anyone to compare her mutation to since she's the only one ever reported with it. Her heart and vessels, lungs, skin, dental and skeletal system could all be affected. Only time will tell but we're praying only her eyes have been affected. I'm not looking for pity by sharing this I'm only asking that you include her in your prayers. She's an amazing kiddo who makes straight A's and A+'s along with being a terrific sister! With all the fuss about Karlie, she handles it so well and even tries to educate others.

Learning of Emmaleigh's health issues was especially hard since we already have so much to deal with emotionally because of Rett Syndrome. Hearing something is wrong with your child doesn't get easier with repetition. The last few months i feel like I've lost a bit of my Pollyanna attitude. The skies aren't always sunny so it's hard to look on the bright side of things all the time. I think the holidays will always be hard but the way some of our friends and family have dealt with the Rett diagnosis is very hurtful. Part of me still mourns for what I've lost and i don't know if that feeling will ever go away but I'm dealing with it. One of my most hurtful losses was that of my childhood best friend. When we received Karlie's diagnosis she made herself scarce due to her own fear i suppose. Surprisingly some of my family members have reacted the same way. They don't stop by or even call to see how we're doing. Out of sight, out of mind? or is it If we don't know and we don't ask, then Rett and Marfans will just go away? I certainly wish it were that easy! I refuse to let myself dwell upon the pain they have caused me anymore. If you're reading this and feel guilty, then this probably applies to you. You have caused me heartache but i forgive you. After all, when one door closes another one is opened. I learned that firsthand by losing my best friend and a few family members but i have gained so many more than i ever lost. The friends i have gained understand my life as it is everyday because of our Rett connection! To all of you Rett Mommies that read this, thank you from the bottom of my heart. One of my special friends passed this on to me so i felt i had to share. Maybe it's what prompted some of my sadness today but it's such a powerful message to those around me. Please follow the link and take a few minutes to hear this beautiful song. It never makes you feel bad inside to help and love those around you. Love and hugs, Kim

http://www.youtube.com/watch?v=84FHZhB5__Y

Happy 4th Birthday Karlie Grace!

2008-12-29T15:08:00.003-05:00

Dad was in charge of the camera so we didn't get a lot of party pics, but some sweet ones none the less.
Karlie's pink cupcakes

I'm gonna cry if you don't give me cake!
Did you notice what my shirt says?

Ahhhh...finally. Cake is one of my favorite things!

See, cupcakes make me happy!

Pappaw, i'll bite your nose off if you don't get me more!

Four years ago i was preparing to give birth to my baby girl. She was scheduled to be delivered by c-section so we weren't anticipating any surprises. However, we woke up just a few days before she was to arrive to find more than two feet of snow on the ground and our area had been declared a state of emergency. Wind chill was estimated at -30 and in less than 24 hours a blizzard had left us with snow drifts that covered our windows. My mother had previously joked with me that since i had been born in the blizzard of 78, perhaps Karlie would make a grand arrival too of some sort. Does my mom have premonitions or what? lol

What should have been a half hour trip to the hospital turned into a two hour drive with the crazy road conditions but not even a natural disaster was going to stop Karlie Grace from completing our family! At 3:31 pm, four years ago today we were introduced to our beautiful baby girl. She weighed 6 pds 4 1/2 ozs and was 19 inches of pure joy! We had decided before her birth on her first name but Grace came to us when we seen her stunning little face. Granted, i copied off of Jerry McGuire, but i whispered in her ear...you complete me and i seen a little smile come across her face.

The next few days were such a time of joy for our family. We welcomed our little one home on New Years Eve and had the best celebration ever. Though we didn't have a clue what was in store for our future, my resolution was to be the best mom i could be and to not take the little things for granted.

Here i sit, four years later thinking back on those resolutions. I know God had a plan for me to be a mother, but i never dreamed it would be to a special angel. Was this his way of teaching me the full meaning of not taking the little things for granted? Since we received Karlie's Rett Syndrome diagnosis it seems like we always celebrate even the smallest of accomplishments. After all, the little things really are the big things in life and make the sweetest memories.

Today is no different for me and my family. It's the day our angel came into this world. Nothing can compare to seeing a big grin spread across her face while her eyes light up the room and a giggle escapes as she gives me a big open mouthed kiss on the cheek! In her happy picture above, her shirt says "Most Likely to Change the World". It has been said that Rett Syndrome could possibly be the first neurological disorder to ever be cured. Could this really be our future? I pray that it is, for my sweet Karlie and thousands of other girls and boys across the nation. Since Karlie is not able to communicate a birthday wish, i'm gonna wish for her. It's a safe bet she would wish for nothing more than a cure and to be continued to be surrounded with love.

I have several other updates but i have a birthday girl waiting patiently for me at the moment. I think it's time for another round of celebration! Hugs and sloppy birthday kisses from Karlie!

From our family to yours...Happy Holidays!

2008-12-25T17:24:00.004-05:00

Ho Ho Ho, Merry Christmas!

2008-12-24T03:21:00.000-05:00

Just a few pictures of the girls and the jolly, fat man in a red suit! This year we're walking a fine line with Emmaleigh and her belief system so i wanted to post our annual Santa picture. This could be the last pic i'll get of her actually wanting to sit next to him. Who knows, maybe she'll humor me in the future and still have one taken with her sister. Karlie, on the other hand didn't want to be there so much. She didn't cry while she was sitting on his lap, but she definately wanted to get out of his castle! I'm sure i had bruises on my collarbone the next day from her forehead bashing, lol but it was all worth it to capture this little memory!

Merry Christmas from The Reynolds!

Karlie's first school picture

2008-12-15T20:39:00.000-05:00

Karlie's preschool pictures finally arrived! The ladies in the office at school were gushing over how cute they turned out! We're pretty proud of our photogenic little angel!

~Riley and Karlie~Rett Friends Forever~

2008-12-11T21:40:00.000-05:00

This pic was taken in Chicago at the Rett Syndrome Conference in May 2008. Someone once told me it reminded them of the theme song for Barbie's Princess and The Pauper movie..."You're just like me...i'm just like you". Aren't they just the sweetest little girls you've ever seen?

Bummer...the Tobii mount has bad springs

2008-12-10T00:11:00.000-05:00

Jon and i struggled a little putting the My Tobii

together last night because the screws were scattered all over the suitcase it comes in and the instructions were in Japanese, lol. Somehow we managed but something just wasn't right. No matter what we did, the screen would tilt down toward the table. I contacted tech support this morning and the springs are bad in the mount! So...we're trying to improvise by flipping the mount and resting it on the tabletop instead. It's close to working, but we can't get Karlie at the right angle to calibrate her eyes since we can't move the screen. At this point she's unable to use it, but we're still excited none the less. I'll have a extra two weeks to learn the programming and she'll have a little time to get used to it as well. I have to say, it's an unbelievable piece of equipment!

Hoooray!!! The My Tobii is here!!!

2008-12-08T18:15:00.000-05:00

As you can see, we're pretty excited to have received the My Tobii today! For those of you who don't know, this is possibly Karlie's window to communication. Due to Rett Syndrome, she is unable to talk or use her hands, making nearly all tasks impossible. The My Tobii is an advanced eye gaze computer system that speaks when Karlie simply looks at her choice. Karlie first tried this amazing piece of equipment
in Chicago at the Rett Syndrome conference and then again in July. Immediately after, Kate (Bean's Speech Therapist) started the long process of paperwork so we could rent the My Tobii for two months. This is truly a remarkable moment for her to have access to such technology and i'm so happy it's finally here. She's still so young, but i think she'll catch on quickly. This could be a major life changing opportunity for all of us! Now, it will be up to me to supply all of her demands, lol. I can't wait to hear, "i want a drink, i want to eat, i want a drink, i want Elmo, i want to play"....the list goes on and on.

Here's a few more sweet shots of Miss Karlie. The lighting is terrible but who doesn't love the glow of Christmas lights?

I love her beautiful smile and eyes! This is Bean at her best! She's been in the best mood all day. I think she was happy that we stayed home waiting for the UPS man. She hung out in her room and watched movies but i guess i would prefer that over school too, lol.

What's up with the hiccups???

2008-12-03T08:41:00.000-05:00

Karlie Bean had hiccups nine times yesterday so that made me wonder what causes hiccups??? I remember learning long ago that it had something to do with the diaphragm but couldn't recall details so i found my answer with a quick search. The diaphragm is a dome-shaped muscle at the bottom of your chest, and all hiccups start here.
The diaphragm almost always works perfectly. When you inhale, it pulls down to help pull air into the lungs. When you exhale, it pushes up to help push air out of the lungs. But sometimes the diaphragm becomes irritated. When this happens, it pulls down in a jerky way, which makes you suck air into your throat suddenly. When the air rushing in hits your voice box, you're left with a big hiccup.
Some things that irritate the diaphragm are eating too quickly or too much, an irritation in the stomach or the throat, or feeling nervous or excited. While i may never know exactly what caused Karlie's hiccups i'm thankful to report they were easy to get rid of each time with a few sips of milk. Hopefully they won't be returning today because the hiccups are only funny so long.

Happy Thanksgiving

2008-11-26T23:13:00.000-05:00

My family is the beginning of a very long list of things i'm thankful for, not only during the holiday season but everyday. This particular year (our first with the Rett Syndrome diagnosis) i feel as if i've counted each blessing twice. Naturally, there have been a lot of hard moments but we are lucky to be blessed and thankful. From our family to yours...Happy Thanksgiving!

A sad day for us...Karlie's last session of Speech therapy with Mrs. Kate

2008-11-21T15:36:00.000-05:00

Karlie and Mrs. Kate reading Brown Bear, Brown Bear

Today we had to say goodbye to a friend. Karlie's awesome Speech Therapist is relocating and we just finished our last session with Mrs. Kate. The children she will work with in Colorado will certainly be blessed, but i can't help feeling sad for our loss. Mrs. Kate worked wonderfully with Karlie for the last year and a half. She quickly gained her trust and communicated with her better than any other therapist at this point. She has shared brilliant ideas and was successfully teaching my little one how to communicate with eye gaze. Mrs. Kate was also instrumental in making sure Karlie has the opportunity to use a high tech eye gaze system, the My Tobii. Her bubbly attitude and caring hugs will surely be missed and the poor girl who follows will have some mighty big shoes to fill in Karlie's eyes!

The beginning of our Rett Syndrome journey...hard to believe a year has passed.

2008-11-13T17:33:00.000-05:00

On the eighth of November, 2007 i was driving on the interstate toward home, with my two daughters in the backseat. My oldest, Emmaleigh and i were singing along with the radio, while Karlie laughed at us. My phone rang, and the doctor on the other end gave me news that forever changed many lives. My youngest daughter, Karlie Grace had tested positive for Rett Syndrome at the age of 35 months.

That instant, i realized that i would be caring for my daughter for the rest of her fragile life. I had read about Rett Syndrome (RTT) in a ten year old library book and on the internet, while searching for answers that no one else could give me. My mother's intuition knew that something was wrong with Karlie but i wasn't prepared for the news. I had spent five long weeks praying her blood test wood be negative not preparing myself otherwise. I was crushed...my heart torn into. A flurry of emotions came over me, after just a few seconds of conversation with the doctor. I was afraid, i had so many questions but no words were coming out. I felt like someone had knocked the wind out of me while tears flooded my vision. I had never felt so helpless or broken hearted. Every dream that i had for my youngest child was gone in an instant, leaving a gut wrenching emptiness. Utter dispare.

All else that i could think of was that i needed to get off the road, and breathe but i couldn't. I couldn't sit on the side of the road and let my children see me go to pieces, i knew i needed help. I drove for fifteen minutes before i reached my exit, while having my first panic attack. Emmaleigh was afraid but silent and Karlie thought my emotions were hilarious. How could this happen? Why did it have to be my baby? Why our family? What did i do wrong? How am i going to handle this? I made it to my dad's office, since my husband and mom were at work. My dad seen me before i ever made it inside and knew something was horribley wrong. I had instructed Emmaleigh to stay in the Jeep, it would be okay. She was scared and didn't move a muscle. Did she know that her life had just drastically changed when the words Rett Syndrome entered our lives?

I spent the next half hour crying for everything that was lost. My grandparents came and took the girls to their house, while i grieved. I knew i had to tell my husband, since he would be home from work soon, so i mustered every ounce of strength to pull myself together. The drive home took minutes, and with perfect timing Jon pulled in the driveway. Thankfully, i didn't have to say a word. He instinctivly knew so we just sat in the kitchen floor and consoled each other as our world came crashing down. From there, we formed the only plan that we knew possible. To love her and do everything in our power to see her through life and make her happy.

That evening, new dreams were created for Karlie and along the way, through the tears came hope. I refused to let myself fall apart any further and anger was building up. I don't ever remember being pissed so much at God, but just pissed off that this had happened to my daughter. Then i thought of all the other girls that i knew must be out there living with Rett Syndrome. Rett is rare, but i was determined to find someone who understood. I also wanted to face this head on and be informed. I buried myself in the computer and the Rett Syndrome Handbook which arrived a week later. Our future was unknown, but isn't everybody's?

Immediately we arranged for more therapy. She was already seeing an Occupational therapist and her Speech therapist had just resigned. We found a wonderful new Speech therapist five minutes from home along with a fantastic Chiropracter. We also sought a new Physical therapist since her other was on maternity leave. Her Developmental Pediatrician suggested that we meet with a Genetics Counseler, a Neurologist, a Cardiologist, a Pulmonologist....so many ologists and this was just the beginning. Months passed, each day was another therapy and another appointment. Various tests, showed good and bad results. We learned through a swallow study that Karlie was aspirating liquids into her lungs when she drank and our second round of pneumonia followed due to this. We started thickening her liquids to pudding consistency and mention was made of a feeding tube. Recently, she completed almost five months of Vital Stim therapy and is now successfully drinking regular liquids again with a tightly pinched straw. This was a major victory against Rett Syndrome that we won! The outcome may be temporary but Karlie happily celebrated with a snow cone and we are incredibly proud of her new swallowing ability!

I was thrown into the special needs school world, fighting through IEP's for what i thought was best but against "professionals" who knew nothing of Rett. I read the education laws until i was blue in the face and still don't know that i fully understand, but i bluffed well enough that they gave into my demands. After months of bickering, i feel like we were victorious again. Karlie attends an inclusive preschool class with me by her side. Some days she holds out for an hour, other days, we eat lunch and leave. I want her to be challenged, but i want her to be happy so she can learn and not be afraid of the environment and the comotion going on around her. Her teacher is still gaining her trust but Karlie loves her rendition of "Five Little Monkeys".

Karlie has made progress in many areas, yet we've seen a few regressions as well. Naturally, some days are better than others but we enjoy them as they come. I love the moments she's really verbal and babbles like crazy just as much as when she laughs her little head off. Her laugh is so bubbly and completely contagious. She loves it when you get her belly and the anticipation totally cracks her up. Karlie is such a joy and blessing to our family!

Looking back over the last year, the rest of us have came a long way as well. I deal with heartache daily but don't dwell upon it. Karlie has numerous therapies and appointments so we stay busy, which helps tremendously. Jon works to support our family but thankfully he landed a job a few minutes away from home that paid better than his previous job. He too carries a lot of stress, but does so with a smile upon his face. Emmaleigh is a straight A student, most of them being A+'s so she has adjusted well too. She's in the second grade and we just found out that she comprehensively reads at a fifth grade level. I'm so thankful school comes so easy and education excites her. She misses out on a lot of fun things that are difficult to now do as a family but i pray that she always understands. She knows her sister is different, but to us, she's the same precious girl we brought home from the hospital on New Years Eve almost four years ago.

I've cried thousands of tears and lost many nights sleep hoping for a cure. I don't feel like we can depend upon the government to help our children since there never seems to be enough money left for research funding. There are a few different non-profit agencies that are dedicated to raising Rett Research money but two are dear to my heart. I truly think a cure will be produced from their abilities to raise money and awareness. I beg you to visit www.girlpower2cure.org and www.rsrt.org. If it is possible, i urge you to make a tax deductible donation in Karlie's name toward our dream. Someday, i hope to celebrate the anniversary of Karlie's cure, rather than the anniversary of her diagnosis day. Hugs and angel kisses to all! Karlie's mom, Kim