Supporting those with rare diseases: Niemann-Pick UK

Niemann-Pick UK (NPUK) is the only UK charity wholly dedicated to supporting families affected by Niemann-Pick diseases. These are rare, progressive genetic conditions (such as ASMD types A/B and NPC) with no known cure, and the impact touches every part of life.

What Niemann-Pick UK Does

• Care, support and advice
  From diagnosis onwards, NPUK offers emotional and practical help — for newly diagnosed patients, their families, carers and professionals.
• Information and awareness
  They publish guides, raise understanding of symptoms, and promote better knowledge in medical, social, and educational settings.
• Advocacy and research facilitation
  They encourage, fund, and partner in research into treatments and therapies. NPUK also campaigns to improve recognition, access to care, and support for people living with Niemann-Pick.
• Reducing isolation and building community
  Through events, conferences, publications, and peer connection, NPUK gives those affected a voice and a sense of community.

Why NPUK’s work matters

Because Niemann-Pick diseases are ultra-rare, many families feel alone, face diagnostic delays, or struggle to access specialist care. NPUK bridges those gaps. They support people whose journeys are often misunderstood and under-resourced, helping them access services, stay informed, and feel less isolated.

In recent times, NPUK has faced additional challenges: a malicious fire in September 2025 destroyed their central office, threatening their ability to deliver services.

If you’d like to support their work, here’s how:

• Donate, to help maintain essential services and rebuild infrastructure
• Fundraise — host a challenge, event, or campaign in support
• Raise awareness — share credible information about Niemann-Pick diseases
• Volunteer or contribute skills, especially in communications, advocacy, or community building

To learn more or get involved, visit NPUK’s website or see their profile on Wonderful.