Thursday, November 13, 2008

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

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 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 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 and 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


Avery said...

glad to see you blogging! Beware, its addictive :)

p.s. I have the shirts made by a local lady. It is very much a southern thing! you can find them on ebay. search for applique t-shirt.

Brooklyn said...

You have me in tears...We all remember that diagnosis call and also dream with you for a cure so that we can celebrate a new day!!

Please join us on Karlie's Rett Syndrome Journey ~ Until we find a CURE!

~During Vital Stim Therapy~

Want To Follow Karlie's Blog? ~ Click Here

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~