February 28 was Rare Disease Day – and in honor of that, Meredith’s mother, Dottie, shared her daughter’s story with us.
Meredith Tyson has been a Y member since the opening of the Indian Valley branch and participated in our after school program while she was a student.
Many of you know Meredith, but you may not know the underlying cause of her challenges. Although she appeared completely normal at birth and reached many of the first year milestones on or near other children, that progress soon slowed. After over a year of doctor visits and testing, and thanks to the internet, some doctors in Amsterdam diagnosed her with L-2 Hydroxyglutaric aciduria when she was 4 years old. At the time she was reportedly the 14th case in the world; now (25 years later) there are perhaps 150 or so reported cases. L2HGA is a chronic, progressive, neurodegenerative, metabolic disorder for which there is no cure and only minimal treatment. It damages the part of the brain that controls movement, balance, and coordination, and also leads to cognitive delay.
As her mother, Dottie, recalls, “thinking back to our first appointment with a highly recommended neurologist in Philadelphia, I am so glad we didn’t follow his suggestion to ‘put her in a more restrictive setting’ (aka residential program), and did what we felt was best for her. She is quite the social butterfly, and almost everywhere we go, people greet her by name. Despite the challenges that she faces daily, she is happy, she makes us laugh, and that’s what’s important.”
Our members are an integral part of our Y family. As such, we are continually encouraged and inspired by our members every day. Keep going Meredith!