Back in 2004, my mom and dad had no idea what was coming their way. My daddy says I came with all the cute options, dimples, chubby cheeks and TONS of brown hair. Throw in an adorable smile and a strong personality, and you have a recipe for an angel. What they did not know were the tragic ingredients of this recipe that were lying in wait in my DNA.
For the first 18 months of my life, I kept on growing and developing just like all of my friends. I progressed fairly normally in reaching developmental milestones. I sat up at 6 months, crawled at 12 months, started walking at 16 months and had a few words in my repertoire. My favorites were daddy, doggie, more, yah, no, mommy, bubble and wa-wa. I loved to wave, play peek-a-boo, play outside, listen to music, pop bubbles, read books and would get mesmerized by watching fans spin. I was born in the summer, so the fans were always spinning.
Looking back, mom and dad say there were some things that I didn't do. I think they always thought it was harder for me to use my motor skills, particularly speech, but like most parents, they are told by peers and doctors that "She'll catch up, give her a few more months..."
I am very lucky to have two Grandmas that were teachers. My grammy was telling my mom that for being almost two, I should have been talking more. I had never put two words together and had started to talk less and less. I also had never been able to jump or do many of the physical things other kids do (climb on everything, dance, use a spoon and fork, etc...). At my two year appointment, our pediatrician, saw the same things my parents did and was also a little concerned. I started OT and PT the next week and my therapist, Betsy felt I was showing signs of "Sensory Integration Disorder." So I started my many weekly sessions of therapy to work on strengthening my body as well as my mind with OT.
Right after I found out I was going to be a big sister, daddy got an opportunity to move to Portland with his company, Nike. As we moved up to Portland, we started all over with doctors and evaluations, and new medical professionals to really get to the bottom of what was holding me back from my full potential.
After many doctors visits, an MRI and two LONG evaluations in the Autism and Neurodevelopment clinics at Doernbecher, they finally suggested I get genetic, chromosomal and metabolic testing for various things. My mom and dad came home and researched each of the diseases they wanted to test me for. They knew what RS was from hours of research, but they didn't think I fit the RS mold. I hadn't lost the ability to walk and did not wring my hands at the time, two very typical symptoms of Rett.
I did, though, suffer from Acid Reflux, and ground my teeth constantly, two things they would find out are also common with Rett girls. So a DNA test was done and we awaited the results. My parents werenÂ’t anxious actually, as they had been told by the doctors at OHSU that they did not think I had Rett. On December 1, 2007, we received the news that I indeed suffer from Rett Syndrome. To date, I am the only person in the international genetic database that has this particular Â“genetic mutationÂ”.
My parents wondered: What to do next? What can you do when your dreams of seeing your daughter leading a normal life of tea parties with dolls, soccer games, high school prom, falling in love, going to college, getting married and bringing your grandchildren into the world have just been dashed in an hour?
what else could we do? we decided to fight!
WELCOME TO OUR ARMY!
In spite of all my challenges, My smile can make the gloomiest Portland Day turn 80 degrees and sunny. I love to swim, read books, listen to music, ride horses, pop bubbles, play outside, go to school and go for bike rides. I love to watch my little brothers run around and will chase them when I feel like it.