Sara is thirteen years old. When Sara was around six months old we realized that she was not developing her milestones like she should, and she was losing skills. We were sent to countless doctors for many tests all with no results. She started PT and OT at nine months old. Finally someone referred us to a geneticist. He examined her, listened to her history and symptoms and told us he thought she had Rett Syndrome. We had never heard of it. He took some blood and sent it for testing. We went home and researched Rett, and realized that the symptoms sounded just like Saras and we just knew that is what she had. Right after she turned two, he confirmed that she did indeed have Rett. We were told what to expect, what not to expect, told her life expectancy could be really short, that she would struggle, there was no cure. Take each symptom as it came. We were asked if we wanted to place her in a care facility, we said no.
Sara has never crawled, never stood, walked or sat up on her own. She could say a few words but quickly lost them. She also lost the ability to roll over, hold a toy or cup, and to feed herself. She went through a period of screaming and crying for no apparent reason. She has always had reflux and constipation problems, she has also had very low muscle tone. She has had a few seizures. She has developed osteoporosis as well and already had a leg fracture. At age five she had to have a feeding tube since she had started choking on everything she ate and would sometimes aspirate. She couldn't gain any weight and was very small. Sara also has scoliosis and had a rod put in her back to help straighten her spine in December 2009. After her first back surgery she plumped right up. It turns out that her spine was squishing her stomach and causing her to vomit a lot. She has had back surgery every six months since December 2009. We almost lost our princess on April 29th 2010. She had been very sick for three weeks, her body went into septic shock and her heart stopped for five minutes. The doctors told us she would not make it through the night but she is a fighter. She recovered and is doing great! Most girls with Rett have gallbladder problems, and Sara's had to be removed in March 2013. It was full of infection and stones. Se has had kidney stones. Recently, she had hip surgery because her hips were very close to dislocating. All of her health issues are because of Rett Syndrome. Despite all this, the scariest thing about Rett Syndrome is that some of the girls suddenly pass in their sleep, without warning. They have had a great day, gone to bed happy and "normal" only to pass during the night. This is my biggest fear.
Despite all of her health issues and everything she has been through, Sara is a very happy child. She loves to be held, snuggled, talked to and sang to. She is always smiling and laughing, and she gives the best licks and kisses. Sara enjoys going shopping and visiting family. She also enjoys going to school. She recently got a MyTobii (eye gaze computer) so we are working with her to teach her how to use it to communicate with us.
Sara is amazing and such a blessing in our lives. I love hearing her laugh and hearing her babble, trying so hard to talk. She can say "I love" "yeah" and has said "I love you" a few times. She has our love and our hearts in the palm of her hand. We will never stop fighting for her.