Receiving a diagnosis of Niemann-Pick disease (NPC) can be overwhelming and bring a mix of emotions. You are not alone. The Australian Niemann-Pick Disease Foundation (ANPDF) is here to support you every step of the way.

Getting the right help and information at the right time can make a big difference. Knowing what care and support there is available can help you live as well as you can with NPD.

Through this website, our dedicated volunteer family members, and the Niemann-pick network, we share quality information with you about NPD to help you find your way.

Where Do I Start?

• Understanding NPD: Niemann-Pick diseases are a group of rare genetic disorders that affects the body’s ability to metabolise and transport cholesterol and other lipids to the proper cell compartments. This leads to an accumulation of these substances in various tissues, including the brain, liver, and spleen. Visit the Understanding Niemann-Pick section for more info.

Initial Steps

• Connect with Specialists: Seek out healthcare professionals who specialise in NPD. They can provide you with the most current and comprehensive care plans.

• Gather Information: Educate yourself about NPD. Knowledge is empowering and can help you make informed decisions about your or your loved one’s care.

  
  

Support Network

• Join Our Community: Connect with other families and individuals affected by NPD. Sharing experiences and advice can be incredibly comforting and helpful. Visit the Community page for more info.

• Counselling Services: Consider speaking with a counsellor who understands the emotional impact of a rare disease diagnosis.

  
  

What to Expect

• Medical Appointments: You will likely have frequent appointments with various specialists. Keeping a detailed medical history and list of questions can help you make the most of these visits.

• Treatment Options: While there is currently no cure, there are treatments available that can help manage symptoms and improve quality of life. Your healthcare team will discuss these options with you.

  
  

Resources

Reaching out may not feel possible straight away. However, when you are ready, you can touch base about any of the following resources from our contact page.

• Educational Materials: Access our library of resources, including brochures, videos, and articles about NPC or ASMD.

• Financial Assistance: Learn about programs and grants that can help with the costs associated with care. Applications are made with our Patient Liaison Officers via our contact page.

• Advocacy and Awareness: Get involved in raising awareness and advocating for research and resources.

• Annual Conference: Join us in June each year for the Annual Niemann-Pick conference held in Melbourne. Learn more about the Conference page for more info.