Six-year-old Nicolas Skeers was born with a severe genetic mutation to the gene B3GALT6. His disorder is rare: only a few cases have been reported worldwide. It affects his bones and connective tissue. Nicolas can’t walk or talk. His mother Kimberly is a single mom. Since Nicolas is on a respirator and needs constant care, she doesn’t work. She’s been mostly homebound, since Nicolas doesn’t fit in a regular car seat. As the sole caregiver for her son, Kimberly has put aside caring for herself. Dental and medical exams have been lax for years.
Thanks to your donations, Caruso Family Charities is assisting with three months of rent, medical exams, dental exam, cleaning and x-rays for Kimberly and a custom-built car seat for Nicolas to help ease the burden. Nicolas gave us a huge smile when placed in his car seat for the first time.
B3GALT6 mutations can cause severe multisystemic disorders that result in severe soft connective tissue malfunction and bone fragility with multiple early-onset fractures, skeletal abnormalities, and intellectual disability. The gene B3GALT6 is responsible for spondyloepimetaphyseal dysplasia with joint laxity type 1 and for several Ehlers-Danlos syndrome variants. It affects biological processes in various tissues, including skin, bones, cartilage, tendons, and ligaments.