Hey, do you love bike riding? Competitively or otherwise? And are you going to be in the Philly area around May 7th? Then you should consider taking part in the Million Dollar Bike Ride sponsored by Penn Medicine’s Orphan Disease Center. The ride’s goal is to raise a million dollars (natch) for rare disease research.
If you’re not able to attend but still want to make your presence felt, why not donate to “Team Miles for Millie: Riding our way to a GLUT1 cure”? Millie is a little girl living with Glut1 Deficiency, an extremely rare genetic disorder affecting as few as 500 people worldwide.
Children with Glut1 are born with a mutation in the gene responsible for transporting glucose to the brain—and developing brains need glucose for energy. Symptoms can range from seizures to learning difficulties; Millie displayed her first symptoms at three months old, when her parents noticed rapid eye movements. Unfortunately, it took another three years for doctor’s to diagnose her with Glut1 Deficiency, and by then she’d experienced major developmental and physical challenges.
Now six years old, Millie is in kindergarten and showing great progress in catching up with her peers. She’s helped along by a loving, supportive family, lots of one-on-one academic assistance, and a strictly regimented ketogenic diet—which provides an alternate source of energy to fuel brain development. For now, the ketogenic diet seems to be the best option for Glut1 patients, though for families like Millie’s additional treatments—or better yet a cure—is the ultimate goal.
That’s why Millie’s family is participating in the Million Dollar Bike Ride. They’ve set a fundraising goal of $20,000, 100% of which would go to a pilot grant for researching Glut1. If they reach the goal, the Orphan Disease Center will match their funds to double the grant amount!
So far, Team Miles for Millie is just over the ¼ mark. If you want to make a real difference in the lives of children like Millie, let’s get behind her team and help them cross the finish line in triumph!