What is Neimann Pick Type C disease?

NPC is a progressive neurovisceral genetic disorder that occurs in 1 in 150,000 births. 80% of affected patients are children, but 20% are adults at the time of diagnosis. NPC predominantly results in neurological difficulties, often initially presenting as problems with co-ordination and eye movements, and over time affecting walking, swallowing and memory. Children often develop seizures and significant learning problems with illness progression. A significant proportion of adult patients develop a mental illness, and this is often the first sign of the disease.

There is currently no treatment in Australia for NPC, and most patients are treated symptomatically for their difficulties with movement and swallowing, and for associated problems (such as psychiatric illness or seizures). Some promising medications are in use overseas for sufferers of NPC, and ultimately research is aimed at preventing illness onset and progression so that people affected with NPC can lead healthy and normal lives, as at present there is no cure for NPC Disease.

Dr. Mark Walterfang
Consultant Neuropsychiatrist
Neuropsychiatry Unit
Royal Melbourne Hospital

Monday, September 27, 2010

Cycle 4 Sam - Shining his star.....Part 1

A few photo's from the Cycle 4 Sam Benalla leg of the ride from Bright to Adelaide. It was wonderful and inspiring to meet Sam Roberts's family and the Cycle 4 Sam team as they began their 2010 journey.
A screening of Sam's NPC documentary "Shining his Star" was emotional viewing for all whom attended the dinner at the Benalla Golf Club on the evening of the team's arrival to Benalla.

Awaiting the arrival of the cyclists from Bright

Cyclists heading into Benalla just ahead of the rain

The Cycle 4 Sam team with NPC sufferer's Kirsten & Matthew Smith and Timmy & Matty Lloyd

The Smiths, Jacobs & Roberts families all meet at last

At the screening of Sam's moving documentary