About Us

Blair (often referred to as “Blair Bear”) lights up every room she enters and can change the course of any bad day with her brilliant smile. Blair loves to explore nature and she is an extremely affectionate child who loves stuffed animals, particularly her lifelong best friend “panda bear”. Blair is extremely empathetic and a relentless hard worker, serving as a role model to all she encounters who can clearly see the challenges she herself faces in daily life. Even at 6 years old, and despite hours of therapy each day and weeks of intensive therapy each year, Blair has never been able to walk independently without support and her wheelchair providers her main source of mobility.

Lilly is a determined, opinionated and kind little girl. She has never met someone or something she doesn't want to "help" and she loves dancing and singing, her stuffed animals, baking, and her brother, cousins and friends. At just 6 years old, she is mature beyond her years and endures interventions, medications and endless therapies with a resilience far beyond her age. Lilly primarily crawls around the home, uses a walker at school and relies on her wheelchair more and more for longer distances. She navigates life with a smile on her face and an endless curiosity about the world around her, even when she has to rely on someone else to help her experience the life most of us live without second thought.

Max is a happy and silly 3-year-old boy who has shown global developmental delays since birth. He was officially diagnosed with de novo SPG4 at age 2.5. He has worked hard strengthening his muscles in physical therapy since he was 4 months old and hopes to gain enough strength to walk on his own one day. Max is learning to use his wheelchair outside of the home, and refuses to let his disability get in the way of playing with others. Max loves to play with cars and trucks, read books, and scare his friends by pretending he’s a dinosaur. He has a huge smile and gives tight hugs and sweet kisses to his friends and family.

By 10 months of age, Sam’s parents noticed developmental delays. After consultations with neurologists and extensive tested, he was initially believed to have cerebral palsy. In 2021, genetic testing confirmed de novo SPG4. Sam, now 12, experiences increasing leg spasticity and low muscle tone, as well as impacts to his speech. He has received various treatments, including a baclofen pump. Despite being mostly wheelchair-bound, Sam enjoys therapy, video games, fishing, and spending time with his friends and family. He remains a happy, compassionate, and determined boy who smiles through both good and challenging times.

Ruairi (Ru) is a happy, caring and curious 3 year old boy. Due to motor delays, Ru was initially suspected to have cerebral palsy. Following genetic testing around 24 months his actual condition was determined as being de novo SPG4. Ru faces increasing leg spasticity and low torso muscle tone. For mobility, Ru mainly crawls when at home, endeavors with his walker when at nursery and usually uses a pram or push trike when out and about. Despite his challenges, Ru tries his best in everything he does, and usually with a smile. Ru is a car fanatic (it was also his first word!) and will almost always be found with a toy car in at least one hand! Ru also loves reading books, swimming, practicing with his walker and playing with his friends at nursery.

Rowan is a joyful, loving, and determined little boy whose smile can light up any room. Early on, he reached certain milestones in his own unique order—crawling before he could sit up on his own—but at the time, his family had no reason to think anything was wrong. By the time he was 15 months old, however, Rowan still was not walking or standing on his own and had not yet spoken his first words. After months of physical therapy with little improvement in his muscle tone, his doctors began to consider a diagnosis of cerebral palsy. An MRI later ruled out CP, and genetic testing provided answers: Rowan had de novo SPG4. He received his diagnosis a few months after his second birthday.
Despite these challenges, Rowan has never been discouraged by the fact that his body moves differently. He is always on the go, doing whatever he can to stay active—whether that means using his walker, crawling, or dancing on his knees. He adores cats and trains, and he loves to build and solve puzzles. Rowan radiates joy, and he makes every day brighter for everyone who knows him. He is a truly special little guy.

Nina is the most loving 2.5 year old girl. She loves to laugh, goof around with her big sister, and play pretend with her stuffed animals. We found out Nina’s diagnosis of SPG4 in December 2024 after genetic testing. She has never stood or walked independently without her walker, but she continues to work hard at physical therapy twice a week. She is also working hard at speech therapy and continues to add new words to her vocabulary. Her big bright smile brings immense joy to all of our lives. 

Jack is a very happy, loving and observant 1.5 year old little boy. His smile and laugh are contagious, and he loves horses and being outdoors. Jack's parents noticed gross motor delay around 6 months, and got this relentless child started at physical therapy at the local hospital in Texas. In the summer of 2024, Jack's neurologist ordered an MRI on his brain and genetic testing. The genetic testing results showed Childhood-Onset, De Novo SPG4 (variant 499). Jack has physical, occupational, and speech therapy weekly and is consistently showing small improvements. This determined little boy struggles with balance, joint hypermobility, low muscle tone and is not able to sit up, crawl, or walk. Jack's family is very hopeful for a cure thanks to great organizations such as the Lilly and Blair Foundation, CureSPG4, Blu Genes and countless others who are working tirelessly to defeat this progressive degenerative disease.