THE REAL STORY
Niemann-Pick Type C is a very rare and complex Lysosomal storage disorder. It is caused by a protein deficiency, not an enzyme, but the end result is the same; an accumulation of materials (cholesterol and other fatty acids) in the body’s cells. In Niemann-Pick type C (NP-C), the brain and other organs are affected The age of onset and rate of disease progression can greatly vary between individual patients. Children who develop neurological symptoms in early childhood are thought to have a more aggressive form of the disease and may not survive to adolescence, while others may remain symptom-free for many years. Niemann-Pick disease type C (NP-C) is an extremely rare genetic disorder arising from neuronal accumulation of glycosphingolipids, due to abnormal lipid trafficking, causing structural and functional damage in cells and tissues. There are two subtypes, NP-C1 and NP-C2, which are phenotypically similar.
In 2007 Hollie Carter, was diagnosed with Niemann Pick Type C ('NP-C') an extremely rare and devastating genetic condition which causes neurological decline and childhood dementia and for which there is currently no cure.
Less than 50 children suffer from this condition in the UK and only 1000 worldwide. Hollie is the inspiration behind the Hope for Hollie Foundation, a registered grant giving charity which is working to make lifetime a reality for those fighting NP-C. Having NP-C means that Hollie cannot process cholesterol properly. Excessive amounts of cholesterol have accumulated within her liver and spleen and are continuing to build in her brain, doing irreversible damage. There are just over 800 known cases of NP-C worldwide. It is believed, however that the number of people affected is higher but difficulties diagnosing the disease make it hard to accurately assess the occurrence rate.