Made by a PURA parent in the UK. Information only, not medical advice. Read our disclaimer.

Just had a PURA diagnosis?

Take a breath. You don't need to do everything at once. Here are a few gentle first steps that other families have found helpful.

  1. Connect with other families. The PURA Syndrome Foundation has family coordinators, sibling and grandparent outreach and a parents' Facebook group (see its FAQ).
  2. Read a trusted overview. Try the Foundation's FAQ and the Unique family guide. If you like detail, share the GeneReviews chapter with your child's team.
  3. Share the clinician handout. The Foundation's Clinical Considerations for PURA handout (on its Resources page) is written for any clinician meeting PURA for the first time.
  4. Join the registry when you're ready. The free patient registry also lets you keep your child's records in one place.
  5. Check what help you can get. See benefits & grants and talk to Contact, the charity for families with disabled children.
  6. Look after yourself, too. Respite and short breaks and family support are there for you.

This page is information only. Please follow the advice of your child's own medical team.