No one should feel like they’re facing NPC alone
Because Niemann-Pick disease type C (NPC) is a rare disease, you may find that many people—even some doctors—don’t know much about it. It’s important to have conversations about NPC, as you will quickly become the expert who can explain the details.
The more others know, the more they can understand what you’re going through and how they can best support you. As they say, “it takes a village” to treat a rare disease. Before long, you’ll be creating your own village of support, including doctors, specialists, family, and friends.
This also means getting comfortable asking for help. Don’t be shy: support can come in all shapes and sizes, from a one-time favor to ongoing assistance. Some people in your life will naturally want to help—take a moment to think about the most meaningful ways they can be there for you.
The ABCs of NPC
NPC is a rare genetic condition where the body has trouble processing and recycling fats like cholesterol. Because of this, these fats build up inside the body’s cells, causing them to stop working correctly. This buildup affects how the brain and body work together, and it can impact speech, movement, thinking, behavior, and different internal organs.
Share the following list with your family and friends so they can understand what you or your child are experiencing.
- Movement becoming harder and less steady: Balance issues, frequent falls, or movements that seem stiff or hard to control
- Changes in muscle strength: Low muscle tone, weakness, or involuntary muscle movements that affect how someone sits, stands, or moves
- Speech and swallowing becoming more difficult: Speech may be slow or sound slurred, eating or swallowing can take more effort
- Trouble with everyday skills: Walking, writing, dressing, or feeding oneself may become harder over time
- Learning and memory challenges: Difficulty learning new things, solving problems, or remembering information
- Changes in eye movement: Trouble quickly moving the eyes or following motion, affecting reading or moving through space
- Sleep issues or seizures
- Behavior, mood, or mental health changes: Anxiety, depression, personality changes, psychiatric symptoms that appear before physical signs
Unfortunately, NPC is a progressive disease, meaning these symptoms will change and worsen over time.
What to share about the everyday impact of NPC
One of the most challenging things to explain is that there is no single "NPC experience." Symptoms will be very individual to the person with NPC, which can make it difficult to tell others what to expect.
If you’re living with NPC, it may be helpful to outline your symptoms and how they impact you every day. You can share this outline with others—teachers, bosses, or anyone who should know how NPC impacts you or your loved one.
| Symptom | How it impacts everyday living |
| Example: Slurred speech | Makes it difficult to talk in class or on the phone. |
| Example: Impaired mobility | Makes it hard to climb the stairs at work. |
Remember: don’t be shy about asking for help. If you’re talking to your employer, for example, they should be able to provide guidance on workplace accommodations or connect you with Human Resources for support. A guidance counselor or school aide might be able to help with classroom accommodations.
Learn more about who might be part of your care team here.
You don't have to go through this alone
It's okay to express how the journey has impacted you emotionally and how you cope with the day-to-day needs. Friends and family can help in many ways: by listening with an open heart, helping with errands or rides, watching children or pets, or simply being there with you during a doctor's appointment or test. Think about the specific type of help you need or want—and ask for it directly.
What NPC means for your family
NPC is a genetic condition, meaning it’s passed down from parents to children. Although it’s rare—affecting roughly 1 in 100,000 people—it’s important for family members to understand the genetic link: if a person is a carrier for the gene that causes NPC, there’s a chance they can pass it to a child, even if another child is not affected.
Family members should be tested to see if they have NPC or carry the gene that causes it. You can learn more about genetic testing here.
Talking about the future
Consider sharing what you know about your or your loved one’s treatment and what the next months or years might bring. You might also want to talk about the doctors and specialists who make up your care team.
But remember: it’s okay to set boundaries. If there are certain details you don’t want to share, gently communicate that. This is your story to tell, and you get to decide how it’s told.
