What we do

πŸ’™ Mission

Our mission is to connect people affected by ultra-rare genetic conditions, provide accessible and reliable information, and build a supportive community where no one feels alone in their diagnosis.


πŸ‘οΈ Vision

We envision a world where individuals and families navigating extremely rare conditions can find each other, share knowledge, and access support β€” no matter where they live.
By combining digital tools, social media, and real-life connections, we aim to break the isolation that often comes with a rare diagnosis.


🎯 What We Do

1. Create Community

  • Facilitate peer support through private Facebook groups, online meetings, and eventually local meetups.
  • Build safe spaces for families, caregivers, and patients to connect and exchange experiences.

2. Provide Reliable Information

  • Develop dedicated websites for ultra-rare conditions, starting with Poretti-Boltshauser Syndrome.
  • Translate complex medical information into clear, understandable language.
  • Contribute to public knowledge by creating Wikipedia entries and fact sheets.

3. Raise Awareness & Advocate

  • Share patient stories and expert insights via blogs, interviews, and social media.
  • Organize events for Rare Disease Day and collaborate with researchers and hospitals.
  • Advocate for better recognition and understanding of ultra-rare conditions.

4. Support Research & Collaboration

  • Connect medical experts and affected families to encourage research.
  • Help identify gaps in medical understanding and data collection.
  • Promote international knowledge exchange.

πŸ’¬ Our Story

This initiative started with a personal journey β€” searching for answers after a rare diagnosis, and finding very little support or information. From this challenge, a purpose emerged: to ensure others don’t have to face the same journey alone.


Today, our community is growing steadily, starting with Poretti-Boltshauser Syndrome and expanding.


🌍 Join Us

Whether you’re a patient, caregiver, medical professional, or simply someone who wants to help β€” you’re welcome here.
Let’s build a network of hope, understanding, and strength β€” together.

πŸ“§ Contact: alissa@alissaschrijft.nl
πŸ”— Websites: www.porettiboltshausersyndrome.info
www.unique-connected.org