What is NPC disease?

What is NPC disease?

In this blog Jaylea writes about the disease NPC, and what it means to her. 

Niemann-Pick Type C Disease (NPC) is very close to my heart as two of my cousins have this extremely rare disease. Taylor and Aaron, since they were little, struggled with social skills and general development and were continually told that it was just a learning difficulty.

My Aunty Kellie had enough of being told this, as she was starting to see their fun-loving personalities disappear. After many tests and many different doctors and specialists, they were finally diagnosed with NPC.

To explain how rare this is, 1 in 100,000 people are carriers of this gene! It takes two people both being carriers of this gene to have a baby that will then have NPC. That’s 1 in 1,000,000 chance. See the diagram below.

Taylor and Aaron have been involved in many drug trials as there is no cure for this disease. Aaron (25 years old) is now non-verbal and communicates with a simple thumbs up or down. Taylor (28 years old) is still able to communicate and be involved in the day to day tasks with supervision.

They are both now receiving assistance and funding from the NDIS.

Niemann-Pick Disease is a rare, inherited disease that affects the body's ability to process fat within cells. These cells fail and, over time, die. Niemann-Pick disease can affect multiple parts of the body including the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs. The disease is classified into three types, A B & C. Type C is the most variable form of Niemann-Pick disease, with symptoms sometimes appearing and then disappearing, and the progression rate different from person to person.

There is currently no cure for the disease but there is always hope that through clinical trials of new therapies, one day a cure will be possible. As with all diseases that currently have no cure the importance of awareness, research and funding raising is crucial.

Friday the 24th of June marks the day of the 2022 NPC Conference, an in-person and virtual event. The day is jam-packed with clinicians and researchers speaking about the latest clinical trials, updates and practical discussions on the management of the disease for those families that might be navigating a new diagnosis. The day is also a great way for families and people that are affected by the disease to come together and connect. 

Visit Niemann Pick C | Australian Niemann-Pick Type C Disease Foundation (npcd.org.au) for some more information about this incredibly rare disease. Awareness is power!

Jaylea is on Pathway to Care’s Plan Management Team.