When Terry Jo Bichell learned her son was diagnosed with Angelman syndrome, but little knowledge existed on the disease, she decided to get her PhD and do research herself, reported Angelman Syndrome News.
17 years ago her son Louie was born, and her gut told her something was wrong. At the time, Terry was a midwife nurse and had studied public health from prestigious universities, so when Louie showed abnormalities with his communication, she knew something was there. Yet, it wasn’t until he was 1-years-old that she decided to take Louie to the doctor. He wasn’t sitting up like a normal 1-year-old would. Right away, the doctor diagnosed the baby with cerebral palsy, yet she wasn’t so convinced that was actually the problem.
Angelman syndrome is a rare genetic disease that affects the nervous system and results in symptoms affecting mental and physical development, as well as speech impairment. It affects about 1 in every 10,000 children. Angelman syndrome is not a disease that is too well known, making it difficult for future research to be funded. Bichell shares that while it has similarities to Huntington’s disease, Huntington’s disease receives much more attention because the patients can actually voice their feelings. Angelman patients can’t talk, making it hard to describe what they’re going through. To learn more about Angelman syndrome, click here.
In Bichell’s mind, her only option was to go out there and find answers rather than continuing asking for them. At 58-years-old she enrolled herself into the neuroscience graduate program at Vanderbilt University’s Brain Institute. She later on earned her PhD and is now the director of the Angelman Biomarkers and Outcome Measures Alliance. She’s also a volunteer ambassador for the Rare Action Network.
Bichell is making moves to fight for her son, although she doesn’t know if the treatment will arrive soon enough to benefit him. Her honor is respected by many other families with children suffering from Angelman and they couldn’t be more grateful to have a fierce, unstoppable leader looking out for them and the Angelman community.
