Meet Our Families
Most affected infants are now identified at birth through newborn screening. Unfortunately, not all states automatically test for ARG1-D and infants may not exhibit symptoms immediately at birth. While important, newborn screening has limited effectiveness due to low levels of plasma arginine in newborns and inconsistent testing standards. People with ARG1-D may be misdiagnosed with other conditions such as cerebral palsy or hereditary spastic paraplegia. Plasma amino acid panels and genetic tests are considered to be more reliable and are readily available. Early detection of ARG1-D is critical and can help your child get the treatment he/she needs. ARG1-D can be diagnosed easily, and for those in need these tests are accessible free of cost.
In Honor of JOSH on RARE DISEASE DAY
A Mother’s Story Joshua Eaton, Pioneer in the ARG1-D Community, Age 27 South Shore, Massachusetts We share Josh’s story so his life can inspire others
A Song for Jackson
This song is dedicated to Jean, my partner, our son Jackson, the children and families affected by Arginase 1 Deficiency, Urea Cycle Defects, and rare
Meet Jackson
Meet Jackson, age 30, with parents Jean and Leafy Southern California Living with ARG1-D Jackson, age 30, is a self-described cooking fanatic. It is a
Meet Nina
At seven years old, Nina has never met a stranger – each person she meets is immediately her friend. Nina loves to paint, to create
Meet Willow
Since the moment her mom Tanja realized she was pregnant, her daughter Willow has been full of surprises. Today, Willow is a nurturing, kind, sweet