Скачать или смотреть Cockayne Syndrome touches NEPA - The Times Leader reports

This 2 year old girl, playing with her toys and hanging out with her mom... is very rare. She is one of about 70 children in the United States and one of 300 ever diagnosed in the entire world with Cockayne Syndrome. Cockayne Sydrome is a rare genetic disorder and Julianne Tompkins was diagnosed this past summer in Philadelphia. It finally ended her mother's search to find out why Juliann was so special. Christina Thompkins, Juliann's mother, knew Juliann wasn't a typical baby. There are three varieties of Cockayne syndrome and there is currently no cure. Juliann has type 1, which means that her age range is 10 to 20 years and she is relatively high functioning. At 2 years old, Juliann has had 3 surgeries, 2 on her skull and one to correct her vision. Her life will be a struggle, but also a mystery for her parents, Christina and Brent. They are not sure how Juliann will learn, if she will ever speak or if she will ever walk without help. Juliann and her parents take trips to Philadelphia three or four times per month. Both parents work full time to support Juliann and her healthy brother, Dustin. Christina's cousin, Zach Lee, helped to organize a breakfast fundraiser at Applebee's to raise money for the family's travel costs and medical bills. Christina's sister, Candice, says Juliann holds a special place in her heart. The fundraiser was held on December 3, but contact Christina Thompkins through Facebook if you would like to donate or volunteer at one of the Cockayne Syndrome events.