09/03/2026
Have you heard of Niemann-Pick Disease? (NPD)
Understanding Niemann-Pick Disease (NPD)
A rare genetic condition many people have never heard of
Niemann-Pick Disease (NPD) is a group of rare inherited disorders that affect the body’s ability to process and transport fats (lipids), including cholesterol, inside cells. When this process does not work properly, harmful substances accumulate in organs and sometimes in the brain, leading to progressive health problems.
Although the disease is rare, it has a significant impact on the individuals and families living with it.
Types of Niemann-Pick Disease
There are three main types of Niemann-Pick Disease.
Type A
This is the most severe form and usually begins in infancy. It affects both the brain and internal organs such as the liver and spleen. Symptoms often appear within the first few months of life and may include feeding difficulties, poor growth, and developmental delay. Unfortunately, Type A progresses rapidly and children with this form usually do not survive beyond early childhood.
Type B
Type B also affects organs such as the liver, spleen, and lungs, but typically does not severely affect the brain. Symptoms often begin in childhood and may include an enlarged abdomen, frequent respiratory infections, fatigue, and growth delays. Many individuals with Type B can live into adulthood, although they may require ongoing medical care.
Type C
Type C is a progressive neurological form of the disease that can appear in childhood, adolescence, or adulthood. It affects the brain and nervous system and gradually leads to problems with movement, coordination, speech, swallowing, memory, and independence.
How the Disease Begins
The early signs of Niemann-Pick Disease vary depending on the type and age of onset. Some of the symptoms families and doctors may notice include:
• Enlarged liver or spleen
• Difficulty feeding or poor growth in infants
• Frequent chest infections
• Problems with balance or coordination
• Slurred speech
• Difficulty swallowing
• Learning or memory problems
• Behavioural or personality changes
Because many of these symptoms can look similar to other conditions, diagnosis can sometimes take time.
How Niemann-Pick Disease Is Diagnosed
Diagnosis usually involves several steps including:
• Medical and neurological examinations
• Blood tests and specialised laboratory tests
• Imaging such as MRI scans
• Genetic testing to identify the specific gene mutation
Since the disease is genetic, family history may also play a role in identifying the condition.
How Rare Is It?
Niemann-Pick Disease is considered a rare disease worldwide, affecting approximately 1 in 100,000 to 150,000 people depending on the type.
In Australia, only a small number of individuals are known to be living with the condition, which makes awareness extremely important.
Living With Niemann-Pick Disease
At present, there is no cure for Niemann-Pick Disease, although treatments and therapies may help manage symptoms and slow progression in some cases.
As the disease progresses, individuals may require increasing levels of support such as:
• Medical care and monitoring
• Physiotherapy and occupational therapy
• Speech and swallowing therapy
• Assistance with daily activities
• Structured support and supervision for safety
For some individuals, especially in later stages, ongoing daily support may become essential.
Why Awareness Matters
Because Niemann-Pick Disease is rare, many people including health professionals may never encounter it. Raising awareness helps improve early diagnosis, support services, research, and understanding within the community.
Learn More
If you would like to learn more about Niemann-Pick Disease, the following organisations provide reliable information:
• Rare Voices Australia – [https://rarevoices.org.au](https://rarevoices.org.au)
• Genetic Alliance Australia – [https://geneticalliance.org.au](https://geneticalliance.org.au)
• Niemann–Pick Disease Foundation – [https://npdf.org](https://npdf.org)
Here are well-known specialists and clinical teams in Australia involved in Niemann-Pick Disease (NPC) and other lysosomal storage disorders. Because the condition is rare, patients are usually treated by metabolic specialists, neurologists, and genetic medicine physicians** rather than doctors dedicated only to NPC.
Below are recognised Australian clinicians and centres experienced in lysosomal storage diseases (which include Niemann-Pick Disease).
Melbourne - Victoria
Royal Melbourne Hospital
Metabolic Diseases Unit
Dr David Coman - Metabolic Physician
Phone: (03) 9342 7151
Royal Children’s Hospital Melbourne
Victorian Clinical Genetics Services
Dr Belinda Chong - Clinical Geneticist
Phone: 1300 11 8247
Sydney - New South Wales
The Children’s Hospital at Westmead
Genetic Metabolic Disorders Service
Dr Bridget Wilcken - Metabolic Specialist
Phone: (02) 9845 0000
Sydney Children’s Hospital Randwick
Genetic Metabolic Disorders Service
Dr Michelle Farrar - Neurologist (rare neurological and genetic disorders)
Phone: (02) 9382 1111
Brisbane - Queensland
Royal Brisbane and Women’s Hospital
Genetic Health Queensland
Dr Gareth Baynam - Clinical Geneticist / Rare Disease Specialist
Phone: (07) 3646 8111
Adelaide - South Australia
Women’s and Children’s Hospital Adelaide
Metabolic Clinic
Dr Michael Stark - Metabolic Paediatrician
Phone: (08) 8161 7000
Perth - Western Australia
Perth Children’s Hospital
Metabolic Medicine Service
Dr Gareth Jones - Metabolic Specialist
Phone: (08) 6456 2222
Important Notice
Because Niemann-Pick Disease is extremely rare:
• Most patients are seen through metabolic genetics clinics
• Care is multidisciplinary (neurology, genetics, metabolic medicine, speech therapy, physiotherapy)
• Many cases are managed through tertiary hospitals and rare disease networks
Raising awareness about rare diseases helps create a more informed and compassionate community for those living with these conditions.
TThe Royal Melbourne Hospital
