Samantha and Jake are sister and brother who have been recently diagnosed with Cockayne Syndrome Type II. Their age expectancy is only between 4 and 7 years old. Samantha is 5 1/2 and Jake is 2 1/2. Sam and Jake were both born with cataracts and had their lenses surgically removed when they were only 5 weeks old. They have both worn contact lenses so they can see since they were 3 months old. Last December Samantha had two more surgeries to implant lenses in her eyes so she no longer needs to wear contacts, just glasses for correction. Samantha demands constant attention, while Jake can play independently. Both Samantha and Jake are very loving children. Jake is always smiling and laughing. Samantha is constantly giving kisses to anyone who will accept a kiss on their forehead. They both go to special schools, which they love very much.
Cockayne Syndrome is a neurodegenerative disease characterized by developmental delays, tremors, failure to thrive and loss of major milestones. Samantha started walking at 18 months but lost that ability at 3 1/2 years old. She can not even get to a standing position by herself any more. She can walk with the help of her walker, but she has suffered from severe tremors since she was 2 1/2, which are getting progressively worse. The tremors make it impossible for her to do much without assistance. She is unable to feed herself without help because she shakes so bad she drops whatever is on her spoon before it can get to her mouth. She loves to play in her kitchen but is so unsteady that she usually drops all of her toys and she is unable to get them herself. She is currently on her 5th medication for her tremors as well as medication to help her sleep and for reflux. She has been through countless blood tests, MRIs, EEGs before she was finally diagnosed with CS. Neither Samantha nor Jake can speak but a few words. Jake is still able to walk so far and hasn’t started tremoring yet, but he is very delayed.
We are currently going out of the country to receive alternative treatment for both Samantha and Jake. The treatment and the travel is very expensive but we are hopeful that this will prove to give Samantha more of a functional and enjoyable life and hopefully stop Jake from progressing to the level that unfortunately Samantha has had to live with for so much of her very short life. Any help will be greatly appreciated.