Sophia was born on March 25, 2002 at 6:11pm. While she has never really been a healthy child, she is the light of my life, and most nights, the "light" that keeps me awake.
As an infant, Sophia was always a little behind, but for the most part did quite a few things on her own. She sat unassisted, she babbled, she fed herself finger foods. She even began taking a few steps. (Her therapists were wonderful, never gave up) But she was still always so sick. Her first 1½ years were filled with a balance of play dates, doctors and therapists. In February 2004, when Sophia was 21 months old her little brother, Calan was born. He was the perfect addition to our family. To this day, he is one of her biggest fans, her best friend, her hands & legs, and often times, her voice. It was around that time I realized that she had lost many of her skills, and she wasn't aquiring more... She could no longer feed herself, and she didn't have much to "say." Walking was becoming harder for her, not easier. We kept telling ourselves, â€œbut she was always so sick. In January 2005, after having just spent her 2nd Christmas in the hospital with pneumonia, she began having seizures. They have proven to be one of her biggest challenges. But this, too she is dealing with, with dignity and grace.
In 2006, after 2½ years of genetic testing, Sophia was diagnosed with RETT SYNDROME. Rett Syndrome is an awful neurological disorder seen almost exclusively in females, and it messes up almost everything she tries to do! Rett is the leading genetic cause of severe impairment in girls: most cannot speak, walk, or use their hands. Typically, girls have total normal development, until about 6-18 months of age, and then they begin to regress. Rett girls are predisposed to having seizures, and they typically begin just prior their third birthday. Every 90 minutes another baby girl is born who will someday bear a Rett Syndrome diagnosis. Life with Rett is full of ups and downs. By now, Sophia no longer has language, and can no longer eat by mouth. She has lost all of her purposeful hand use, can no longer walk, and deals with daily seizures.
While Sophia has lost so many things, she still has the most amazing laugh, and a smile that can light up a room! She can hear you. She can see you. She has so much to say, so much to teach us, so many things in life to still experience, yet is trapped in a body that simply REFUSES to work.
Sophia's daily life is a series of routines, and absolutely everything must be done for her. When her days are good, they are really GREAT, and when they're not! ... Well, we can only hope tomorrow is better. She is still my sweet, perfect little girl. She will always have challenges, and many obstacles to overcome. She is, by far, the bravest and strongest little girl that I know.
Today, I speak for SOPHIA, and all of her wonderful ways. She is just one of THOUSANDS of girls affected by Rett Syndrome. However, we CAN get the word out. We need people to know about Rett Syndrome. We need the world to embrace our children, and help us reach for a cure. Please help me tell Sophia's story, and her story of Rett Syndrome.