Our daughter Kylie was perfectly healthy until three days before her 4th birthday – April 2008. She had a sudden seizure. From that moment on our lives changed drastically. After her first seizure, she developed a strange twitch by her mouth which then turned into a “tremor.” Over a matter of months, the tremor spread from her cheek down the entire right side of her body.
Kylie now has scoliosis, torticollis (head tilt) a form of dystonia, and has a feeding tube for 99% of her daily nutrition. She is on high dose medications to control her seizures, help her sleep, and control her blood sugar levels. Kylie remains undiagnosed. She has stumped many doctors and was even seen at the National Institutes of Health’s Undiagnosed Diseases Program in 2009.
Every day, we Google Kylie’s symptoms hoping something new will turn up. We call almost anyone we think that might know what Kylie has. It’s not like on TV when you learn what your child has and everything turns out ‘OK’ in the end.
I once told another RARE Mom, “I don’t know if we fit into rare, we aren’t really rare. We are undiagnosed.” Her response was, “Well…if you don’t know what Kylie has, it’s very rare.”
We have our daily struggles. Kylie is a blessing and whilewe hope and pray that we will learn something new about her condition, I wouldn’t trade her for the world. Through everything, everyday, Kylie has a smile on her face!
To learn more about Kylie, you can watch a segment by Sanjay Gupta of CNN.