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

First appointments after a PURA diagnosis: what to ask

For your first genetics, paediatric or neurology appointments. Tick what you want to cover and jot down the answers.

  • Fits on one A4 page
  • Not medical advice
More on PURA groups & specialistsRead the guide

PURA Family Directory · purasyndrome.app

First appointments after a PURA diagnosis

For your first genetics, paediatric or neurology appointments. Tick what you want to cover and jot down the answers.

Child's name: Date: With:

Before the appointment

  • Your child's genetic report (and any letters that came with it)
  • A list of current medicines, feeds and allergies
  • Short videos of anything you're unsure about, such as unusual movements
  • Your top three worries, written down

Questions to ask

  1. What does my child's genetic result mean, in plain English?
  2. Who will be our main point of contact, and how do we reach them?
  3. Which other specialists should my child see, and who will refer us?
  4. Should my child have any checks now, such as eyes, heart or an EEG?
  5. What signs should make us seek help quickly, and who do we call?
  6. Can we be referred for genetic counselling?
  7. Is there a written summary or care plan we can share with other teams?
  8. Can you share the PURA clinician handout with the rest of the team?
  9. When is our next appointment, and what happens in between?

Notes

Information only, not medical advice. Always follow your child's own team. purasyndrome.app/checklists/first-appointments/ · checked 1 Nov 2026