Not sure where to begin? We’re here to help you.

Receiving a new diagnosis for your child can be a challenging and emotional journey, but you are not alone. We’re here to warmly welcome and support you as you connect with our rare and compassionate community.

Consider this your comprehensive guide to becoming an integral part of our community, where understanding and support are always within reach.

Step

1

Start Here 👉 Join the Foundation

After a new MED13L diagnosis, join our supportive community to connect, share experiences, and gain access to a network dedicated to guidance and care.

  • Join the Foundation to get on the global map and connect with other families: Register Here
  • Sign up for our newsletter and catch up on past issues: Newsletter Archive
  • New to MED13L? Start with our FAQ page.
  • Watch this overview to help you (and your care team) better understand the diagnosis: Watch on YouTube

Step

2

Join The MED13L Registries

At the MED13L Foundation, we’re turning stories into science — and science into treatments. You can help by enrolling in our global research registries.

  • First, apply for your Clinical Research ID (CRID): Get Your CRID
    • Then, register with:
      • RARE-X — surveys from caregivers
      • Citizen — secure upload of medical records
  • These registries work together to give researchers a fuller picture of MED13L and help prepare for future clinical trials.

Each MED13L Registry includes a unique set of surveys. Different research teams analyze your child’s data from different angles, providing important insights about MED13L. Although participation in ALL MED13L registries would be ideal, we understand the time investment of each. Please use the guide on the next page to make an informed decision

Step

3

Connect With the Community

The best way to get the most up-to-date information in as close to real time as possible is by joining our community groups.

Need more support?

When in doubt, just reach out.

Contact Our Team