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Grace is 9 years old and she suffers from Niemann-Pick Type C (NP-C)

WHAT IS NP-C?Grace xx

Niemann Pick Type C, is an inherited metabolic storage disorder.  A neurologically degenerative disease.  Children are born normally and develop normally until cholestorel and lipids starts to accumulate in the brain cells and destroy them.  The brain does not know how to process cholesterol and lipids and therefore instead of sending them out of the cell onto their next journey, like a big recycling plant , the cell gets confused and accumulates cholesterol and lipids which eventually cause damage and loss of neurological function.  That means NP-C sufferers stop being able to eat, talk, walk and - devastating for us - she now can't say "MUMMY AND DADDY". 

Worse, most children with earlier onset of NP-C do not reach their teens.


Children who have learnt to eat, walk, talk, run and play eventually lose all the ability to do these things.  Niemann Pick Type C is devastating.


Grace’s Wish is not only about raising awareness of Niemann Pick Type C but also the other 7,000 rare genetic diseases which may affect any one of us in the future, whether it be through family or friends.  By raising awareness of these rare diseases, hopefully our government will speed up approval and trial of therapies that may cure rare disease and which are currently looking very positive in research trials.


There is some hope for children with NP-C.  Cyclodextrin has been approved and is in Phase 1 trial in the USA.  However, there are children who have access to this on a compassionate level in the USA, Spain, Germany and other countries.  Other clinical trials are expected to begin soon.  We hope that 2014 will provide more hope for our children in the UK to access therapies that could be life saving.


There are just over 1000 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.


NP-C is always fatal. The vast majority of children die before age 20 (and many die before the age of 10).


How is it inherited?

A child with Niemann-Pick disease will have inherited two abnormal genes from their parents, one from the mother and one from the father. In the parents these genes are recessive, that is to say that each parent carries a single copy of the gene without any clinical signs of the disease. Every time a couple who each carry the recessive gene have a child, there is one in four chance (25%) that the child will inherit the disease.


Is there a Cure?

At present there is no cure for NP-C. 

One drug which is licenced in the UK for  NP-C is called Zavesca (also known as Miglustat). This medication has been shown to help in treating symptoms of NP-C and in some cases to slow down disease progression. Unfortunately however it is not a cure.  

It is hoped that a phase 1 clinical trial will commence in spring 2012 at the National Institute of Health in Maryland, USA into a potential therapy called cyclodextrin. Specific details of this trial will not be available until FDA and NIH Ethics approval has been granted.


For more information on NP-C visit:-


Dr Marc Patterson helps to explains NP-C below....