Australian NPC Disease Foundation Inc: September 2011

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

Thursday, September 22, 2011

Please Sign The Petition......Desperate Times

I will quote NPC mum Mandy Jacobs for the short version...

I have two weeks today to try and convince the Australian government that the 9 patients living with NPC in Australia having the ONLY treatment drug available currently on Compassionate Use program to prolong their lives with Npc Disease to grant us PBAC Approval.Yes there are only 9 of us in this nation and the Governement has failed the last 2 attempts to see that their lives are worthy of spending money on... If i fail, we risk loosing the drug in Australia for those 9 patients. two of which are my babies... :( So If I seem a bit pissed at the world, thats why.

Please click the link below to sign the petition

The Australian NPCD Foundation needs your help