Sophia LeClaire was diagnosed with Congenital Disorder of Glycosylation (CDG)- Rare metabolic disorder, a genetic condition with an as yet undetermined defective gene resulting in metabolism problems and an enzyme deficiency. Sophia is legally blind, developmentally delayed, unable to sit, stand, walk, crawl or use her arms and legs.
Sophia requires constant attention, care and support from her loving and attentive family as well as caregivers.
Sophia's condition is very rare and treatment is somewhat of a mystery to medical professionals only complicating her treatment options. Travel plans are being finalized to Boston Children's Hospital (BCH) where genetic testing continues in an effort to determine what type of CDG she suffers from. Mom, Dena explained that 20% of children with CDG expire within the first year of their lives and they count their blessings every day.
