About Us
Learn about the Cure SPG4 Foundation.
Our Mission
Our mission is to increase awareness of SPG4 Hereditary Spastic Paraplegia, provide a resource for patients and their families, and fund research to find a cure for SPG4 Hereditary Spastic Paraplegia.
Our Story
Cure SPG4 Foundation was founded in 2020 by two families with young children who were diagnosed with SPG4 spastic paraplegia. Our children, Connor and Ellis, each had a journey of subtle symptoms during infancy that became more apparent when they reached the walking stage. Although they began walking independently, our concerns grew when we noticed slower progressive development, unusual balance problems, and awkward gaits. Initial doctor visits suggested that our children had mild spastic diplegia cerebral palsy. However, when MRI’s revealed clear brain scans, we moved to additional genetic testing that revealed the devastating diagnosis of SPG4 Hereditary Spastic Paraplegia. Typically a hereditary disease, both Connor and Ellis’ mutations were “de novo”, meaning they occurred spontaneously and were not passed from either parent.
The McDonnell Family
The Dear Family
Meet Our Kids
Meet Ellis
Ellis captures hearts wherever she goes with her bright smile and her sweet, engaging personality. After picking out her favorite dress for the day, she spends her time singing, dancing, and chasing her brothers as best as she can. Although she struggles with balance, she currently walks independently on flat surfaces and attends physical therapy weekly to gain flexibility, strengthen her leg muscles, and hopefully prevent progression. She dreams of a day when she can run side-by-side with her brothers in the backyard. Ellis is truly the light of our lives and quickly becomes the light of everyone’s life she touches.
Meet Connor
Connor is truly the most confident, toughest, sweetest and happiest little boy. If he falls, he just says “I’m ok” and gets right back up. His mantra is “you never give up.” Connor has a light inside of him that is seen by all who encounter him. His positive attitude shines wherever he goes, he’s certainly taught us so much already! Connor’s condition has made it harder for him to walk independently over time and he now uses a walker more recently, along with AFO boots that help him with his balance and stability. He continues to have such a positive spirit and loves doing everything his brothers do in his own way.
