Our daughter “Grace” is the heart of our family and the inspiration behind our work. She was originally diagnosed with a developmental and speech delay, and then with Cerebral Palsy. Only after a negative MRI and a lot more testing did we discover that she had been born with a rare genetic condition called Hereditary Spastic Paraplegia (SPG4), caused by a de novo mutation. For her, this means walking on tiptoes, struggling to keep her balance, and facing daily challenges that most children never have to think about. She can’t be left alone in the bathtub, on the bed, or near stairs, because she can’t always catch herself or get out of danger. In time, she will need a wheelchair, and she will always need help with things other kids take for granted.
But Grace is so much more than her diagnosis. She is full of laughter, curiosity, and joy. She lights up rooms with her smile and reminds everyone around her what courage truly looks like. Her journey is not a race — it’s a voyage — and we are all her crew. Through her story, we hope to raise awareness, build community, and bring hope to other families navigating the unknown waters of rare disease.
SPG 4 Denovo 