Ford

I think as rare families, we all understand that
there is just something special about these kids who live with a rare disease. No matter their
abilities or lack thereof, they have a magical power to make you feel something. They have the power to put you in the moment and honor the gifts of right now. Ford’s exuberance and laughter for life is one of my favorite of his
qualities. He never holds a grudge and has the
most incredible strength and bravery to face all of the situations that arise. The gifts his beautiful soul has brought into the lives of my family and friends have changed us all. It has broke down barriers and forged new ways of living and thinking. He is only 4, and I welcome all the growth that will continue to transform our lives. The boy who brought the sunshine in.

~Effie, Ford’s Mom

CTNNB1 Syndrome

CTNNB1 syndrome refers to either a deletion, partial deletion, or mutation of the CTNNB1 gene. The CTNNB1 gene provides the blueprint for the creation of betacatenin, which is a multitasking protein that allows for cell specialization, cell division/growth, cell adhesion, and inter-cell communication, among other things. Depending on the degree of alteration or mutation, there will be a wide range of abilities that are affected in subjects with CTNNB1 syndrome, as well as some possible changes in physical appearance.

Artist: Kimberly Cusack