roxanne fales wrote -
Hello, my name is Talia Rose Fales. I was born on July 11, 2000 in Englewood, NJ. My friends call me Tali and my Mom calls me her angel.
At first, Doctors were not concerned. I walked, talked, ate by myself,played with toys, and then one day it all changed. My mom & dad were very worried.They took me to Don Imus Children's Hospital In Hackensack, NJ for further testing. Which included Genetic testing for rare diseases. In the meantime, I was referred to the Bergen County Early Intervention Program for speech,occupational, and physical therapy.
Then, on January 4, 2002, I was diagnosed with Rett Syndrome. My family was in the state of shock, because at first the Genetics counselors assured my parents that it was most probably a Chemical inbalance because I did not have any clinical features that the Rett girls have and all the others tests came back fine. My mom & dad were overwhelmed with anger and sadness. And to this day , they are filled with despair because there is no cure. This condition strikes 1 in 10,000 girls. It is not a Hereditary disease. It is a 99 % sporadic mutation. A missing protein called MECP2 is what causes Rett Syndrome. WHY did this happen to me ? My parents had a very difficult time understanding how my condition would affect all of our lives. Since that time, my family has grown accustomed to my differences and they have come to see me as a beautiful blessing from God.
I have many Doctors and Therapist who help me with the medical conditions related to my diagnosis. Because of my medical needs I have a nurse who comes to my home after school and helps me because I have mutliple needs while my mom tends to my twin sisters. I love my nurse and she has become a very important part in our family’s lives.
I have a wheelchair and I need a lot of help with all my daily activities. I am able to sit on my own,stand and walk with assistance. I receive physical therapy ,speech, and occupational each day at school. My handicap is physical not mental. I understand everything you say and due to apraxia my responses may sometimes be delayed, be patient and you will see that I am like other children in so many ways.. I am able to speak every now and them. I used to be able to talk before Rett syndrome took its full force. However, I am able to communicate effectively via eye gaze. I was tested at the Rett Montifiore Specialty Hospital by Dr. Sasha. She was amazed how very smart I am. My Mom is always proud of me. She was especially proud when Dr. Sasha told her that I was very advanced and tested in the top 3 of Rett Syndrome Girls Worldwide. Because of my cognitive abilities, I was approved to use a special computer named " Tobii Eye Track"which is now my voice and I can learn and communicate quite efficiently.. It is a great computer and I love to use it. My family understands what I need and want most of the time, but it is a lot harder with people who don’t know me as well.
I have 2 younger twin sisters named Tiffany & Tiara. They help me a lot. I love to play with them. We have a great time playing Wii and making arts & crafts. My little sister Tiara loves to make funny faces and always like to read with me. My sisters likes to play music and sing with me. I love to play the piano too. I love my family very much. I am a very lucky little girl.. I am a happy girl most of the time and enjoy being around people. Mom calls me a social butterfly. Sometimes I just like to people watch. And I also love Justin Bieber, Vivtorious, Big time Rush,Mike Posner , Selena Gomez, Kesha, Bruno Mars, Fergie and my favorite shows are ICarly and Spongebob. I also enjoy many other activities that include going to Broadway shows,riding my special bike,swimming, playing Wii with my friends,baking with my mom , and water park rides.
My Mom & my family pray every day and hope that they find a cure real fast. I do have some great news to share with you!.....Rett Syndrome has been reversed in a mouse model!! Scientists are making amazing strides in their research and we truly believe Rett Syndrome will become the first reversible neurological disorder. Rett Syndrome is grossly underfunded. The charity benefits "The Rett Syndrome Research Trust - www.RSRT.org. 96% of every dollar donated goes directly towards researching a cure for me and the thousands of other girls who suffer from Rett Syndrome each day.
I need your support to Make this Miracle Happen! Thank you!