The Australian NPC Disease Foundation Inc supports patients and their families diagnosed with Niemann Pick Type C Disease (NPC Disease). NPC Disease is a terminal, progressive, neurological disease with a life expectancy of only 10 years from time of diagnosis. NPC Disease has a relevance of 1:150,000 births and there are only approximately 500 world wide diagnosed patients aged from new born to adulthood. Approximately only 10-15 cases of those world wide diagnosed, reside in Australia. There are different onset ages for NPC Disease, infantile (new-born to 3), Childhood (aged 3-13), Adolescent (13-20) and Adult onset (over 21 years). Each age onset still has the same prognosis... death!
There is currently NO CURE for NPC disease, and symptoms are only treated accordingly with available medications. Symptoms include:
- Slurred/Mumbled/Broken Speech, leading to loss of speech completely
- Balance issues, mobility problems, gaits, leading to being bedridden or wheelchair bound
- Swallowing problems, leading to choking and high risk of aspiration and lung infections causing pneumonia, leading to being peg fed through the stomach
- Dementia, short term memory loss, Cognitive regression and behavioural issues
- Limb distortion, stiffness, dystonia causing high levels of pain and inability to use limbs and digits
- Seizures, varying from minor to Grand Mal uncontrolled seizures
- Psychotic episodes, hallucinations, etc
- Certain death.
Currently the Foundation is desperately trying to raise funds for a more appropriate and advance treatment option for NPC Disease, being conducted at the University of Melbourne. Compounds such as zinc and copper are being worked with on NPC Mice, which could potentially lead to increasing the life span and quality of NPC Patients both in Australia and around the world. The project needs urgent funds to continue to employ the Scientist and to manage and house the NPC Mice. This cost is estimated at $120,000 per year. Fundraising around Australia has began with a limited amount of diagnosed families, but extra help is desperately needed to reach this cost.
