Samantha and Jake are my two very special children, both born with rare terminal illness. In August of 2007 Samantha and Jake were diagnosed with Cockayne Syndrome (CS) Type II. Cockayne Syndrome is a very rare, neurodegenerative disease characterized by cataracts at birth, developmental delays, tremors, failure to thrive and loss of major milestones. Their age expectancy is only between the ages of 4 and 7 years old. Both Sam and Jake have had numerous eye surgeries starting when they were only 4 weeks old. They both have feeding tubes to help supplement their nutrition.
Both Samantha and Jake are very loving, happy children. Jake loves singing and dancing and Sam likes to do artwork and get her nails done. They both attend special schools, which they absolutely love. They each have the title of “mayor” in their schools! At school, both Sam and Jake receive therapy including speech, physical therapy, occupational therapy and vision therapy. They both have a one-on-one aid that stays with them throughout the school day for safety and helps with tasks and they both have at home therapies every day after school.
Samantha lost her ability to walk independently at the age of 3 1/2 and used her walker to help her ambulate. She has suffered from “Parkinson like” tremors since 2 1/2, which severely limited her ability to do simple tasks such as feed herself or play with most toys. Samantha takes medication for tremors, as well as for acid reflux and sleeping. In October of 2008, Samantha had a feeding tube placed to help her gain more weight and get the added nutrients she needs. At the age of 10, Samantha is only 38 inches and weighs 29.
Jake was beginning to show signs of slight tremors in his head and hands at age 2. He was able to walk still, but frequently fell because of his unsteady gait. He had about three words in his vocabulary. Now at 7 years old, Jake is 36 inches and weighs 28 1/2 pounds. In January 2011, he also had a feeding tube place to give him added nutrition.
In 2008, our lives changed forever. We were introduced to an alternative treatment that changed Samantha and Jake’s lives. In May of 2008, we traveled to another country where Samantha and Jake received their first stem cell treatment. The changes that have occurred have been more than anyone could have expected. It has improved their quality of life immensely. Although Cockayne Syndrome is a degenerative disease with no cure, these treatments are proving otherwise.
In August of 2009, after being unable to walking for 3 1/2 years, Samantha began to regain her ability to walk. She is now able to walk independently for long distances without even using a walker! Although she is still unable to say complete sentences, her vocabulary has expanded immensely. Her communication skills have gone from that of a 24 month old, to that of a 33 month old in a year’s time. She uses many sounds and approximations to get her point across and those who are close to her know what she is saying. She went from a cognitive level of 27 months to 40 months. She has surpassed all of our expectations and continues to do so every day. She is a little miracle. There is no other way to explain it.
Jake received his first treatment at 2 1/2 and since then has shocked us all with his vocabulary and cognitive abilities. Nothing gets past him! He can speak in full sentences and sings all of his favorite songs. He loves reading sight words and can engage in conversations with anyone. He goes to a special education school where he is integrated with typical second graders for art, music, and library. Because he received treatment at such a young age, he never lost his ability to walk like Samantha did.
With every treatments, we watch Samantha and Jake thrive. We never know how they are going to surprise us next! They continue to defy the odds every day. This treatment has given us hope. Hope for another step, another word, another birthday, hope for a future with my children.