‘Somewhere to turn’ for children and young adults with rare diseases. Support us today by donating here.


Congenital Disorder of Glycosylation Type 1a (CDG)

Holly's rare disease is a metabolic condition that causes severe global developmental delays with severe expressive and mild receptive language delay. Additional symptoms include episodes of low blood sugar levels with the risk of stroke-like episodes due to abnormalities of blood clotting. Characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa in late infancy, childhood or adulthood.

The Foundation has supported Holly multiple times providing an iPad with applications to help her communicate in 2010; and regular speech therapy since 2011- speech therapy has made enormous improvement on Holly's ability to talk.

Holly is one of our greatest success stories.

“We thought we would never hear her say her name or say ‘I love you’ or dance in a tutu like the other little girls; and she’s achieved all those things and more!”— mum, Rachel