PURA syndrome
For grandparents, family and friends
We wanted to share a little about our child and PURA syndrome.
PURA syndrome is a rare genetic condition. It’s caused by a change in a gene called PURA, which is important for how the brain develops. Every person with PURA syndrome is different.
In most children it’s a new change that wasn’t inherited from either parent. It isn’t catching.
Things that are common
- Low muscle tone (floppiness), which can affect sitting, moving and posture
- Difficulties with feeding and swallowing
- Learning disability and delayed development
- Little or no speech. Many understand more than they can say
- Walking later, and some don’t walk
- Seizures (epilepsy) are common and can be hard to control
How you can help
- Ask us how they communicate, and learn their signs for yes and no.
- Spend time doing the things they enjoy. They may show you how they feel in ways other than words.
- Check with us before offering food or drink, because swallowing can be difficult.
- Ask us what to do if they have a seizure while you’re with them.
- Practical help means a lot: a meal, a lift, or an hour so we can rest.