Imagine a disease that combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies, and cancer. Children with A-T are usually confined to wheelchairs by age 10 and often do not survive their teens. Because A-T is a multi-system disease, scientists believe that A-T research will help more prevalent diseases such as Alzheimer’s, Parkinson’s, AIDS, and cancer.
WHO ARE WE AND WHY DO WE RUN?
We are Team Sami! From January 10-13 we will be running in Disney World to raise money for Sami and the AT Children’s Project. We are so excited to run and contribute to this great cause for one of the most important people we know, Sami Castro!
Sami is 22-years old, but was diagnosed with AT when she was 3 in 1999. Sami has endured countless operations due to the symptoms described above, including tendon transfers in her legs and inserting a steel rod into her back due to scoliosis. Despite all of this, Sami is one of the most positive people we know. She loves to play Wii (espeically Wii Golf) watch movies (mostly Disney) and go out to nice dinners (anywhere that serves steak). She also spends countless hours making birthday cards for all of the special people in her life and loves her dog, Fanny. Currently, Sami's favorite movie is The Greatest Showman, although close runner-ups are: Finding Dory, Inside Out, Trolls and Moana. She also occasionally swims with dolphins (Video: https://www.facebook.com/winter.dolphin/videos/810135612357623/)
This year is a major year for AT and AT Children’s Project, as recently, AT research has had a breakthrough in a new gene therapy, called ASO which helps to produce the ATM protein that is missing within the cells of children with AT. While they are not currently looking at Sami’s mutation, there is hope that beginning this year ASO will be used to stop the progression of the disease in young children who have recently been diagnosed. They then will move to looking at other mutations. Over the next year, AT Children’s project will need to spend $1.4 million dollars to continue this research, manufacture the drug, and get FDA approval