The story of Theresa
my daughter Clara destiny was diagnosed at the age of eight with a rare chromosome disorder 18p12q. I had no idea she had one until her neurologist noticed large cafe Aulaits on her body. I thought she just had a lot of birth marks. Her neurologist wanted her to get tested with a genetics specialist through children’s hospital in Boston Massachusetts. During the genetics appointment the doctor also noticed Clara also had scholiosis. Since Clara has a rare chromosome disorder there are no matches in the registry. The doctors have told me what goes along with the diagnosis there are learning and speech delays , cognitive issues and heart problems and blindness. Clara meets with the genetics specialist once a year and has yearly eye appointments and is seen with a cardiologist for her heart. Luckily Clara is very healthy and has had no heart or eye issues. She does have the learning delays and had speech delays. Clara also growing up had PSD (pursavive sensory disorders). She will always have cognitive issues. As a parent I am so frustrated not to be able to find a match for Clara because it’s an invisible disease. If you saw Clara you would not be able to tell that she had a rare disease. Growing up I always had Clara in the mainstream education Clara was always in modified classrooms. Clara has enjoyed taking dance, horseback riding, chorus, modeling, and participating in varies activities with her local ymca. Clara is a proud 2013 high school graduate with her school and participates in a vocational program through her high school. Clara is very excited to be taking Irish step dancing classes ( it was on her bucket list) maybe someday Clara will meet someone that shares her chromosome disorder but until then I am gonna enjoy. The happy moments with her